question

X-linked Recessive

answer

CHAD'S KINKY WIFE GOT LUCKY C: Chronic granulomatous Disease H: Hunter's Disease A: Anhidrotic ectodermal dysplasia D: Dyskeratosis congenita S: SCID KINKY: Menke's KINKY Hair disease W: Wiskott Aldrich I: Ichthyosis, X-linked F: Fabry's disease E: Ehler's Danlos, V and IX Got: G6PD Defiency Lucky: Lesh-Nyhan

question

X-linked Dominant

answer

IF MOB CCHILD I: Incontinentia pigmenti F: focal dermal hypoplasia (Goltz) A: Albright's hereditary osteodystrophy M: MIDAS syndrome O: Oral-digital-facial syndrome B: Bazex syndrome C: Chondrodysplasia punctata CHILD syndrome

question

Epidermolysis Bullosa Simplex (EBS)

answer

AD keratin 5, 14

question

Weber-cockayne

answer

palmaplantar bullae 1st-3rd decade keratin 5 and 14, AD

question

Generalized (koeber)

answer

Generalized bullae starting in infancy c mild mucosal involvement keratin 5, 14

question

Dowling-Meara

answer

Widespread bullae (some herpetiform), ++ mucous membrane, laryngeal/esophageal, nail dystrophy, early death keratin 5, 14

question

Which EBS is associated with early death?

answer

Dowling-Meara

question

EBS with muscular dystrophy

answer

plectin mutation

question

EBS with plyoric atresia

answer

plectin mutation

question

plectin mutation + EBS

answer

pyloric atresia or muscular dystrophy or Ogna variant (generalized contusiform bruising)

question

EBS with mottle pigmentation

answer

keratin 5 mutation

question

Autosomal recessive EBS

answer

keratin 14 mutation

question

EBS Ogna variant

answer

plectin mutation generalized contusiform bruising

question

Junctional epidermolysis bullosa (JEB)

answer

AR laminin 5, bullous pemphigoid Ag 2 (BP 180, collagen VXII = 17) blisters in lamina lucida

question

JEB Herlitz type

answer

laminin 5 mutation generalized bullae, nonhealing perioral granulation tissue, nail dystrophy, tooth dysplasia, anemia, growth retardation Fatal by age 3-4

question

Which form of JEB is fatal?

answer

JEB Herlitz type by age 3-4

question

Non-Herlitz JEB

answer

laminin 5 or BP180 mutation or b4 integrin Bullae that heal with atrophic scars, nail dystrophy, scarring alopecia normal life span

question

JEB localized

answer

BP180

question

Generalized atrophic benign epidermolysis bullosa (GABEB)

answer

BP180 extensive atrophy of anterior lower legs

question

JEB with pyloric atresia

answer

mutation of either a6 or b4 integrin

question

JEB inversa

answer

laminin 5, acral bullae

question

Dystrophic epidermolysis bullosa

answer

collagen VII mutation blisters in sublamina densa

question

dominant dystrophic EB

answer

1) Hyperplastic cockayne-touraine 2) Albopapuloid Pasini variant 3) Bart's syndrome 4) Transient bullous dermatosis of newborn collagen VII

question

Hyperplastic Cockayne-Touraine

answer

bullae localized to extremities resolve with milia + scarring mild mucosal involvement dystrophic nails

question

Albopapuloid Pasini variant

answer

widespread bullae healing with hypopigmented scar-like white papules nail dystrophy mild mucosal involvement

question

Bart's syndrome

answer

congenital locazlied absnce of skin usually of shins nail dystrophy

question

Recessive dystrophic EB (hallopeau-simens)

answer

generalized bullae, healing with chronic scars (risk SCC), digital fusion with mitten deformity, flexion contractures, sig mucosal scarring, dysplastic teeth, malnutrition, death

question

Epidermolytic hyperkeratosis

answer

Keratin 1, 10 (AD) bullae, erythroderma at birth -> generalized verrucous ichthyosis later

question

Ichthysosis bullosa of Siemens

answer

AD, keratin 2e fragile blisters at birth, hyperkeratotic plaques on elbows/knees **molting = mauserang = denuded areas c collarette

question

Hailey-Hailey disease

answer

ATP2C1 (AD) flexural erosions, acantholytic dilapidated brick wall

question

Kindler syndrome

answer

KIND1 (kinlin 1 = attaches actin cytoskeleton to ECM) acral blisters, photosensitivity, progressive poikiloderma, wrinkling (esp dorsal hands/feet), palmoplantar hyperkeratosis, nail dystrophy, dental caries, phimosis

question

Colloidal membrane

answer

Lamellar ichthyosis (transglutaminase 1 or ABCA12 gene) Nonbullous congenital ichthyosiform erythroderma (transglutaminase 1 or ALOXE3 or ALOX12B)

question

Ichthyosis vulgaris

answer

fillagrin, AD scale on extensors, sparing flexures starting at puberty, atopic diathesis, hyperlinear palms

question

X-linked ichthyosis

answer

XLR, steroid sulfatase (argylsulfatase C) gene Brown scale, sparing palms/soles/flexures comma-shaped corneal opacities failure of labor progression, cryptochorchidism

question

Lamellar ichthyosis

answer

AR, transglutaminase 1 gene or type II ABCA12 colloidal baby, large thick plates of scale, ectropion, eclabium

question

Nonbullous congenital ichthyosiform erythroderma

answer

AR transglutaminase 1 or ALOXE3 or ALOX12B colloidal baby, mild generalized erythroderma with fine white scale

question

Sjogren Larsson syndrome

answer

AR, fatty aldehyde oxidoreductase/alcohol dehydrogenase deficiency Ichthyosis, spastic ditetraplegia, MR, epilepsy, glistening dot retinal pigmentation, dental enamel dysplasia, PPK

question

Refsum syndrome

answer

Old bad Ref who PHYTES! wearing black/white (salt and pepper), stumbling, deaf phytanic acid accumulation, AR, phytanoyl coenzyme A hydroxylase def (PAHX gene), PEX7, or PHYH gene mild ichthyosis, cerebellar ataxia, peripheral neuropathy, retinitis pigmentosa (salt & pepper), deafness Rx: diet low in green vegetable, dairy

question

Chondrodysplasia punctata (Conradi-Humermann syndrome)

answer

Peroxisomal biogenesis disorder Arylsulfatase E gene (XLR) EBP gene (XLD) PEX-7 (AR)

question

Chondrodysplasia punctata

answer

Ichthyosiform erythroderma in blaschko lines, follicular atrophoderma, stippled epiphyses

question

CHILD syndrome

answer

XLD, lethal in males NSDHL gene (NADPH steroid dehydrogenase-like protein) Peroxisomal biogenesis disorder

question

Peroxisomal biogenesis d/o

answer

CHILD syndrome (NSDHL gene) Chondrodysplasia punctata (Arylsulfatase E, EBP, PEX7)

question

CHILD syndrome clinical

answer

unilateral ichthyosiform erythroderma limb/visceral hypoplasia stippled epiphyes

question

Netherton Syndrome

answer

SPINK-5 mutation, AR ichthyosis linearis circumflexa (double-edged scale), trichorrhexis invaginata (bamboo, ball and socket hair) atopic dermatitis, anaphylaxis from food allergy

question

Best place to sample hair for Comel-Netherton?

answer

Eyebrow

question

Darier's disease (keratosis follicularis)

answer

ATP2A2 (SERCA2), AD hyperkeratotic papules in seb areas, acrokeratosis verruciformis of Hopf, palmar keratoses and pits, red-white longitudinal nail bands, v-shaped distal nail nicks, cobblestoning or oral and rectal mucosa increased risk of kaposiform varicelli

question

What medication worsens Darier's disease?

answer

Lithium

question

KID syndrome (keratitis, ichthyosis, deafness)

answer

AD, connexin 26 mutation generalized mild hyperkeratosis, erythematous keratotic plaques, palmoplantar keratoderma, nonprogressive sensorineural deafness, progressive b/l keratitis, 2/2 blindness

question

Harlequin fetus

answer

ABCA12 gene reported large diamond-shaped plaques, ectropion, eclabium high mortality rate

question

ABCA12 gene

answer

Harlequin fetus Lamellar ichythosis

question

Chanarin-Dorfman syndrome (neutral lipid storage disease c ichthyosis)

answer

ABHD5 gene ichthyosis at birth, unable to break down TGs/fats -> accumulation in skin, LV, muscles, intestines, eyes, ears Peripheral smear: lipid containing vacuoles HSM, catarcts, ataxia, hearing loss, short stature, myopathy, nystagmus, mild inllectual impairment

question

Unna-Thost palmoplantar keratoderma (PPK, non-epidermolytic)

answer

AD, keratin 1 Unna Therman = tall like number "1"

question

Vorner PPK (epidermolytic)

answer

keratin 1, 9 (AD) diffuse symmetric non-transgradient PPK

question

Striated PPK

answer

Brunauer-Fohs-Siemens desmoglein 1, desmoplakin 1 (AD)

question

Mal de Meleda

answer

SLURP-1, AR malodarous transgradient PPK in glove and stocking distribution

question

Howel-Evans syndrome

answer

AD, TOC gene focal, pressure related, non-transgradient PPK Crying/howling = from the pressure Howl from the CA = esophageal cancer, oral leukoplakia

question

Sclerotylosis (Huriez syndrome)

answer

AD sclerosis of skin, nail hypoplasia, PPK 15% -> cutaneous SCC, inc risk bowel CA

question

PPK with deafness

answer

connexin 26 (type 1), AD MTTS1 (type 2, mitochondrial serine tRNA)

question

Vohwinkel syndrome

answer

AD, connexin 26 (GJB2 gene) diffuse honeycombed PPK, pseudoainhum, star-shaped keratosis plaques over joints, deafness Winkel = twinkle = star-shaped keratosis honey combed PPK = yellow star

question

connexin 26 mutation

answer

1) KID (keratitis-ichthyosis-deafness) syndrome 2) PPK with deafness 4) Bart-Pumphrey syndrome

question

Vohwinkel variant

answer

AD, loricrin similar to classic Vohwinkel, + ichthysosis NO deafness

question

Naxos syndrome

answer

plakoglobin, AD PPK + wooly hair + arrhythmogenic cardiomyopathy (LV-cardiomyopathy)

question

Carvajal syndrome

answer

AR, desmoplakin

question

Schopf-Schulz-Passarge Syndrome

answer

AR PPK + eccrine tumors + hypodontia + cystic eyelids

question

Bart-Pumphrey Syndrome

answer

AD, connexin 26 PPK with knuckle pads, leukonychia, deafness Pump = knuckle pads, ruin the nails

question

Olmsted syndrome

answer

AD or XLR mutilating PPK + periorifical plaques

question

Papillon-Lefevre syndrome

answer

Cathepsin C, AR sharply demarcated transgradient stocking-glove PPK, dural calcification, tooth loss, periodontitis, choroid attachments Pepe-Lefleu = skunk, stinky, white stripe where has dural calcifications

question

Haim-Munk syndrome

answer

Cathepsin C (AR) PPK + periodontitis + acroosteolysis + onychogryphosis

question

Cathepsin C

answer

Haim-Munk syndrome Papillon-Lefevre Syndrome

question

Erythrokeratodermia variabilis

answer

connexin 31 (GJB3 gene), 30.3 (GJB4 gene, AD) erythematous migratory patches, fixed hyperkeratotic plaques, palmoplantar keratoderma

question

Symmetric progressive erythrokeratodermia

answer

AD, loricrin hyperkeratotic plaques, PPK

question

Richner-Hanhart Syndrome (Tyrosenemia type II)

answer

hepatic tyrosine aminotransferase def (AR) painful PPK, pseudoherpetic keratitis, blindness Rx: low-tyrosine/phenylalanine diet

question

Epidermal nevus syndrome

answer

nevus unius lateris, sporadic inheritance, capillary malformation, CALMs, seizures, deafness, hemiparesis, hemihypertrophy of limbs, rare solid tumors Bx to r/o EHK

question

Oculocutaneous albinism (OCA) type 1 tyrosinase NEGATIVE albinism

answer

tyrosinase deficiency (AR) generalized pink-white skin color, blue/gray eyes ++ nystagmus, pink nevus inc risk skin CA (SCC>>>)

question

OCA 2 (tyrosinase + albinism)

answer

ROCA, P gene MC OCA pigmented nevus, light brown hair, nystagmus, generalized cream color

question

OCA 3 (brown OCA)

answer

tyrosinase related protein 1 (AR) light brown hair/skin, brown/blue iris, nystagmus

question

Chediak-Higashi syndrome

answer

lysosomal transport gene (LYST, CHS1) OCA, ataxia, muscle weakness, giant lysosomal granules, pancytopenia, death

question

What blood abnl do you get in Chediak-Higashi syndrome and why?

answer

Pancytopenia 2/2 lymphohistiocytic infiltration of reticuloendothelial system

question

Griscelli syndrome

answer

GS1, myosin 5A, GS2, GS3 mild albinism, pancytopenia, immunodeficiency, neuro sx (GS1)

question

lysosomal granules on smear

answer

Chediak-Higashi granules

question

Elejalde syndrome

answer

variant GS1 ++ neuro dysfxn NO immunodeficiency mild albinism

question

Hermansky-Pudlak syndrome

answer

HPS (lysosomal transport protein), AP3B1 (endocytic/exocytic sorting) OCA, excess bleeding 2/2 plt abnl, pulm fibrosis, renal failure, cardiomyopathy, granulomatous colitis)

question

Piebaldism

answer

c-kit protooncogene (AD) white forelock, depigmented patch on face/ext/abd

question

Waardenburg syndrome

answer

PAX-3 gene (type 1, 3), MITF gene (type 2) AD, SOX10, endothelin-3 receptor gene (type 4)

question

Waardenburg syndrome clinical

answer

dystopia canthorum, white forelock, synophrys, heterochromia irides, deafness

question

which type of waardenburg syndrome at risk for hirschsprung disease?

answer

type 4

question

which waardenburg syndrome has limb defects?

answer

type 3

question

which waardenburg syndrome has inc risk of deafness?

answer

type 2

question

Hypomelanosis of Ito

answer

whorled hypopigmentation, occ CNS def, scoliosis, anodontia

question

Tuberous sclerosis aka Bourneville's syndrome

answer

TSC1 (hamartin), TSC2 mutation (tuberin) tumor suppressor genes

question

TS clinical

answer

1st sign = ash leaf macule, shagreen patch (collagenoma), facial angiofibroma, periungal angiofibroma (koenen tumor), CALM, retinal astroctic hamartomas, angoid streaks (bruch's membrane), renal angiomyolipoma, seizures, cardiac rhabdomyomas

question

Westerhof syndrome

answer

similar to TS growth retardation, MR

question

NF1

answer

AD, neurofibromin Two of more of: 1) >5 CALMs, 2) >1 NF or 1 plexiform neurofibroma, 3) Crowe's sign = inguinal or axillary freckling, 4) optic glioma, 5) >1 Lisch nodule, 6) sphenoid dysplasia, 7) 1st deg relative with NF-1

question

NFII

answer

AD, schwannomin/merlin cutaneous schwannonmas and NF bilateral vestibular schwannomas (CN VIII mass) juvenile posterior subcapsular lenticular opacities, meningioma

question

Vogt triad

answer

epilepsy, adenoma sebaceum, mental deficiency

question

Major cause of mortality/morb in NF1?

answer

malignant progression: Wilm's, rhabdomyosarcoma, CML, GI

question

Watson syndrome

answer

neurofibromin pulmonic stenosis + CALMs "Watson" with a pipe = pulm stenosis

question

Russell-Silver syndrome

answer

sporadic CALMs + short + MSK/craniofacial defect, precocious puberty, cryptochidism

question

McCune-Albright syndrome

answer

sporadic mutation GNAS1 gene "Coast of maine" CALM, polyostotic fibrous dysplasia, precocious puberty

question

Albright hereditary osteodystrophy

answer

GNAS Gs subunit adenylate cyclase ossification, pseudohyperPTH (low Ca, high PTH), absent 4th knuckle, hypogonadism)

question

Incontinentia pigmenti (Bloch-Sulzberger)

answer

XLD, lethal in male, NEMO gene 4 stages 1) Vesicular 2) Verrucous 3) Hyperpigmented 4) Hypopigmented Peg or conical teeth, eye abnl, CNS defects, alopecia

question

Hypohidrotic ectodermal dysplasia with immunodeficiency

answer

XLR, NEMO recurrent GI/pulm/skin infxn hypogammaglobulinemia FTT, dec teeth, dec hair

question

LEOPARD syndrome

answer

PTPN11 gene, AD L: lentigines E: EKG abnl O: ocular hypertelorism P: pulm stenosis A: abnl genitalia R: retardation of growth D: deafness

question

Carney complex (NAME syndrome, LAMB syndrome)

answer

PRKAR1A gene (protein kinase A regulatory subunit 1 alpha) cardiac, cutaneous, mammary myxomas pigmented skin lesions endocrine abnl psammomatous melanotic schwannoma

question

NAME syndrome

answer

N: nevi A: atrial myxoma M: myxoid neurofibroma E: ephelids

question

LAMB syndrome

answer

L: lentigines A: atrial myxoma M: Mucocutaneous myxomas B: blue nevi

question

Tay syndrome

answer

AR growth retard, MR, traingular face, cirrhosis, CALMs, vitiligo

question

Canty (hyperkeratosis - hyperpigmentation syndrome)

answer

punctate PPK, macules on face, arm, hands, feet

question

Dowling-Degos

answer

keratin 5, AD reticulated hyperpigmentation of axilla, groin, inframammary, ACF adulthood onset

question

Laugier-Hunziker syndrome

answer

hyperpigmented macules on lips, buccal mucosa, genitalia, longitudinal melanonychia

question

Sturge-Weber Syndrome

answer

sporadic, M=F facial capillary malformation at birth (trigeminal dist, ul > b/l) seizures by 1-2 y/o, MR, cerebral atrophy, tram-track cortical calcifications optho: choroid malformations, i/l glacuoma -> blindness W/u: MRI, ophtho exam

question

Klippel-Trenaunay-Weber syndrome

answer

sporadic port wine stain (LE>UE), hemihypertrophy of limb, lymphatic/deep venous insuf

question

Parkes-Weber syndrome

answer

AVF + Klippel-Trenaunay-Weber syndromeq

question

Beckwith-Wiederman syndrome

answer

p57 (KIP2) gene facial capillary malform, macroglossia, visceromegaly, omphalocele, hemihypertrophy

question

Hemihypertrophy in BWS

answer

a/w tumors (esp Wilms)

question

Von Hippel-Lindau syndrome

answer

VHL gene (tumor suppressor gene), AD b/l retinal hemangioblastomas, cerebellar/CNS hemangioblastomas, renal, RCC, pheo, p pancreatic, capillary malformations

question

Cause of death in Von Hippel-Lindau syndrome?

answer

CNS hemangioblastoma or metastatic RCC

question

Proteus syndrome

answer

PTEN mutation lymphovenous malformation, lipomas, connective tissue nevi, capillary malformation, hyperostoses of epiphyses/skull (esp external auditory canal)

question

Rubinstein-Taybi syndrome

answer

CREB-binding protein, sporadic capillary malf, short, broad thumbs, craniofacial abnl, beaked nose, congenital heart defects, crytochordism

question

Maffucci syndrome

answer

PTH, PTHrP receptor venous malformation, benign enchondromas -> chondrosarcoma

question

Blue Rubber Bleb syndrome

answer

sporadic, sometimes AD (TIE2 mutation) venous malformation of skin/GI death from GIB

question

Ataxia Telangiectasia (Louis-Bar syndrome)

answer

ATM gene and MREII gene (Milder form) 1st sign: cerebellar ataxia telangiectasia conjunctiva/skin, inc sensitivity of ionizing radiation, inc heme/solid tumors female carriers: inc risk breast CA

question

lab abnl in Ataxia telangiectasia

answer

inc alpha-fetoprotein dec or absent IgG2, IgE, IgA

question

Osler-Weber-Rendu Syndrome (hereditary hemorrhagic telangiectasia)

answer

endoglin (TGF-beta binding protein), activin receptor kinase 1, bone morphogenetic protein receptor type II

question

Osler-Weber-Rendu Syndrome clinical

answer

epitaxis, telangiectasia, GIB, pulm AVF, cerebral emboli

question

ALK1 gene mutation in Osler-Weber-Rendu Syndrome

answer

hepatic AVMs

question

Cornelia de Lange Syndrome

answer

NIPBL (AD), sporadic, SMC1L1 gene (XL)

question

Cornelia de Lange syndrome clinical

answer

cutis marmorata + hirstuism + synophrys craniofacial abnl + deaf + MR + low pitch cry short + GU abnl + heart

question

Hereditary lymphedema (nonne-milroy disease)

answer

FLT4 gene (VEGF receptor 3) congenital lymphedema, ascites, scrotal swelling, hypoproteinemia, b/l pleural effusions

question

Lymphedema-distichiasis syndrome

answer

FOXC2 late-onset lymphedema, distichiasis (double row eyelashes), webbed neck, corneal irritation, congenital heart defect

question

Late onset hereditary lymphedema (type 2)

answer

Meige lymphedema

question

Lymphedema + ptosis

answer

MFH1

question

Diffuse congenital hemangiomatosis

answer

sporadic hemangiomas generalized (any organ, can spontaneously regress) if involves LV -> LV complications

question

Hypotrichosis-lymphedema-telangiectasia

answer

SOX18 mutation

question

Erythromelalgia

answer

SCN9A mutation (Na channels) burning, erythema, warmth of acral sites

question

Blood abnl in erythromelalgia

answer

thrombocytopenia

question

Capillary malformation

answer

ateriovenous malformation, RASA1 mutation

question

Familial Glomagioma

answer

GLMN mutation

question

CADASIL (Cerebral AD arteriopathy with subcortical infarcts and leukoencephalopathy)

answer

NOTCH3 mutation

question

Gorlin's sign

answer

tongue reaches nose

question

EDS type 1 (Gravis)

answer

collagen 5 hyperextensible skin, gaping wounds, cigarette paper scars, bruises, hypermobile joints, hernias, MVP, blue sclerae

question

collagen 5 mutation EDS

answer

type 1, type 2 (mitis, milder form of 1)

question

collagen 3

answer

type 3, 4, 8

question

EDS + joint dislocation

answer

type 3 (recurrent) type 11 (large joint)

question

EDS + cardiac rupture -> early death

answer

vascular (type 4), collagen III

question

Lysyl oxidase + EDS

answer

Type 5 (X-linked, XLR), type 9 (occipital horn, XLR)

question

EDS + periodontitis

answer

type 8

question

EDS + petechiae

answer

type 10 (ecchymoses + petechiae) fibronectin mutation

question

Osteogenesis imperfecta

answer

COL1A gene defect

question

EDS + congenital adrenal hyperplasia

answer

tenascin-X

question

Marfan syndrome

answer

fibrillin 1 and 2joint laxity, ectopia lentis with upward discoloration, aortic rupture elastosis perforans serpiginosa

question

lens dislocation

answer

homocystinuria (downward, homos go down) Marfans (upward, tall ppl look up)

question

congenital contractural arachnodactyly

answer

fibrillin 2 crumpled ear, long limbs

question

cutix laxa

answer

fibulin 4 gene (AR), lysyl oxidase (XLR), elastin (AD)

question

Lysyl oxidase

answer

EDS 9, EDS 5 (deficiency), cutis laxa (XLR)

question

Marshall syndrome

answer

acquired cutis laxa

question

Cutis laxa clinical

answer

loose inelastic skin deep voice arterial rupture, hernia, joint dislocation

question

Pseudoxanthoma elasticum

answer

ABCC6 gene plucked-chicken skin on flexures, yellow papules on mucous membranes, angioid streaks (rupture in bruch's membrane), GIB, arterial disease

question

Angioid streaks

answer

1) tuberous sclerosis 2) pseudoxanthoma elasticum

question

Buschke-Ollendorf Syndrome

answer

LEMD3 (aka MAN1, encodes inner membrane protein) dermatofibrosis lenticularis disseminata (elastomas), osteopoikilosis (round opacities in bone)

question

X-linked ichythyosis: inc risk CA

answer

testicular, ALL

question

hyponatremia in porphyria

answer

Acute Intermittent Porphyria (AIP) 2/2 SIADH

question

decreased levels in hair/nail of trichothiodystrophy

answer

Cysteine and Methionine

question

Bonnet Bechaune Blanc syndome

answer

facial vascular malformation, ipsilateral intracranial and retinal malformation

question

Bjornstad syndrome

answer

deafness, pili torti, sparse hair

question

Nail-patella syndrome: what test order first?

answer

UA to r/o glomerulonephritis

question

sturge weber ophtho

answer

glaucoma

question

dyskeratosis congenita + posterior fossa malformation

answer

Hoyeraal-Hreidarsson syndrome

question

Cronkhite-Canada syndrome

answer

generalized hyperpigmentation, GI polyps, melanotic macules of fingers, nail atrophy, alopecia

question

SCID genes

answer

adenosine deaminase deficiency (AR) IL-2 Receptor (XLR)

question

CarvajaL + heart

answer

left-sided cardiomyopathy desmoplakin

question

Naxos + heart

answer

right-sided plakoplakin

question

hyper IgE genes

answer

STAT3, DOCK8, and Tyk2 Tyk2 = non-TB mycobacterial infxn STAT3= job's DOCK8 = warts, cutaneous viral, malignancies at young age

question

dental pits and gingival fibromas

answer

tuberous sclerosis

question

Focal dermal hypoplasia (Goltz syndrome)

answer

XLD, PORCN gene linear atrophy blasckoid distribution, alopecia, nail dystrophy, abnl teeth, colobomas

question

lab abnl progeria (hutchinson-gilford syndrome)

answer

inc urinary hyaluronic acid

question

radiological findings in sturge weber

answer

tram track calcifications temporal/occipital cortex

question

Tay syndrome = trichothiodystrophy = PIBIDS

answer

photosensitivity, ichythyosis, brittle hair, intellectual impairment, decreased fertility, short hair shaft = tiger tail = low cysteine

question

Bloom syndrome

answer

RecQL3 gene (DNA helicase), AR photodistributed erythema, high-pitched voice, telangiectasia over malar eminences, dec IgM, dec IgA levels, hypogonadism, inc risk leukemia/lymphoma

question

Maffucci: MC neoplasm/malig

answer

MC neoplasm = enchondromas MC malignancy = chondrosarcomas

question

pachyonychia congenita (PC) type 1 = Jadassohn-Lewandowsky syndrome

answer

focal symmetric PPK, hyperkeratotic nails (pincer appearance), freq staph/candida paronychial infxn

question

lipoid proteinosis

answer

ECM protein 1 = defective protein hoarse cry, white/yellow lesions lips, eyelids, buccal mucosa, freq URI infxn

question

trichoschisis

answer

clean breaks in hair shaft seen in trichothiodystrophy

question

hailey hailey

answer

AD, ATP2C1

question

Legius syndrome

answer

NF-1 like syndrome (but lacks NF, lisch nodules, CNS tumors) SPRED-1 gene (suppressor Ras/MAPK pathway)

question

Hyper IgE syndrome (Job syndrome)

answer

high IgE broad nasal bridge, prominent nose recurrent sinopulm infxn, eczematous dermatitis

question

maltese cross

answer

birefringent lipid globules seen with polarizing light microscopy fabry's disease

question

dermatofibrosis lenticularis disseminata

answer

buschke-ollendorf syndrome (AD), defect LEMD3 (aka MAN1, codes inner nuclear membrane protein) cutaneous elastomas distributed symmetrically over buttocks, trunk, ext (multiple connective tissue nevi) osteopoikilosis (round opacities in bones)

question

symmetric focal weight bearing PPK in a 20 yearold man

answer

Howel - Evans syndrome get EGD to r/o esophageal carcinoma

question

radiological finding in nevoid BCC syndrome

answer

intracranial calcification of falx cerebri

question

steroid sulfatase aka

answer

arylsulfatase C X-linked ichthyosis

question

WHIM syndrome

answer

wars, hypogammaglobulinemia, infxn, myelokathexis gain of fxn mutation in CXCR4 (retention of neutrophils in BM) AD

question

CHILD syndrome

answer

XLD, gene NSDHL encodes 3-beta-hydroxysteroid dehydrogenase

question

Ectodysplasin (EDA)

answer

XLR, MCC anhidrotic ectodermal dysplasia

question

double row eyelashes

answer

distichiasis seen in lymphedema-distichiasis syndrome mutation FOXC2

question

Richner-Hanhart syndrome

answer

painful PPK pseudoherpetic keratatitis, blindness Rx: low tyrosine/phenyalanine diet AR, hepatic tyrosine aminotransferase

question

trichilemommas

answer

Cowden Bannayan-Riley-Ruvacalba

question

pachynonychia congenita

answer

AD condition, ectodermal structures natal teeth, steatocystoma mutiplex, follicular hyperkeratosis of knee, elbow, extensor, eruptive vellus hair cyst, oral leukokeratosis (not pre-malignant), 20-nail dystrophy, pincer nail (transverse curvature)

question

type 1 pachynonychia congenita

answer

jadassohn-lewandowsky syndrome keratin 6a, 16

question

type 2 pachynonychia congenita

answer

jackson-lawler type keratin 6b, 17

question

Menkes Kinky Hair syndrome

answer

doughy redundant skin, metaphysyeal widening of long bones XLR, defect intestinal Cu-transport protein

question

Golz syndrome (focal dermal hypoplasia)

answer

XLD, Male lethal, PORCN gene linear atrophy following Blaschko's lines osteopathia striata, colobomas, nail dystrophy, alopecia

question

Lipoid proteinosis

answer

ECM1 gene, AR scars/yellow papules on face and oropharynx, eyelid string of pearls, hoarse voice/cry, bean-shaped temporal and hippocampal caclification

question

Lipoid proteinosis path

answer

PAS + deposits

question

Progeria (Hutchinson-Gilford syndrome)

answer

Lamin A gene, AD lipoatrophic sclerodermoid skin, cardiomegaly, nail atrophy, severe atherosclerosis

question

Beare-Stevenson Cutis Gyrata syndrome

answer

fibroblast growth factor receptor 2 craniosynostosis, cutis gyrata, anogenital anml, furrowed palms/soles, skin tags, syndactyly, severe acne, nevus comedonicus

question

Skeletal dysplasia syndrome with acanthosis nigricans

answer

FGFR3 mutation

question

Pachydermoperiostosis

answer

AD, mostly males clubbing of digits, soft tissue hyperplasia, periostial proliferation arms/legs, cutis vertices gyrata

question

Berardinelli-Seip congenital lipodystrophy

answer

BSCL2 gene (nuclear lamins) generalized lipodystrophy, HLD, HSM, acanthosis nigricans, non-ketotic insulin-resistant DM

question

Acquired generalized lipodystrophy (Lawrence syndrome)

answer

AR Type 1: AGPAT gene Type 2: BSCL2 gene

question

Familial partial lipodystrophy (Dunnigan)

answer

Type 1: Kobberling Type 2: Dunnigan (AD), LMNA Type 3: PPARG gene mutation

question

Dunnigan clinical

answer

tuberoeruptive xanthomas symmetric lipoatrophy trunk/limbs (sparing neck, shoulders, buffalo hump area, genitalia) acanthosis nigricans hyperTG

question

Acquired partial lipodystrophy (Barraquer Simons syndrome)

answer

LMNB2 gene mutation (sporadic, AD) decreased fat on face, medial thighs, buttocks; increased fat in hips/legs

question

Leprechaunism (Donohue syndrome)

answer

insulin receptor gene mutation generalized lipodystrophy, elf face, death in infancy

question

Loeys Dietz syndrome

answer

TGF-beta receptors 1 and 2 (AD) translucent skin, aortic aneurysm, arterial tortuosity, craniofacial/skeletal anmls, joint hypermobility

question

Poland syndrome

answer

U/l absence of breast +/- pectoralis major ipislateral syndactyly

question

Joffe-Campacci lipomatosis

answer

disseminated non-ossifying fibromas of long bones and jow bones, hypogonadism, cryptorchidism, MR, giant cell granuloma of jaw

question

Familial multiple lipomatosis

answer

AD multiple lipomas UE and LEs

question

Aplasia cutis congenita (ACC)

answer

AD/AR/sporadic well-demarcated erosion at birth -> heals with atrophic alopecic scars

question

Types of ACC

answer

1) Bart's syndrome: dominant dystrophic EB + ACC lower extremity 2) Adams-Oliver: AD, midline scalp ACC with limb hypoplasia 3) Teratogens (ie methimazole)

question

Osteogenesis imperfecta

answer

COL1A1 gene defect, types I & IV (AD), types II and II (AD/AR - most severe, fx in utero) MVP, multiple fx, thin skin, easy bruising, blue sclera

question

Menkes Kinky Hair syndrome

answer

ATP7A (ATP-dependent Cu transporter) Low levels Cu, Hair: trichorrhexis nodosa, pili torti, brittle hair, spare eyebrows/eyelashes Skin: lax skin, cupid's bow upper lip CNS: prog deterioration skeletal abnl, tortuous arteries

question

Bjornstad Syndrome

answer

Pili torti, deafness, normal intelligence

question

Arginonocuccinic aciduria

answer

AR, argininosuccinase Hair: trichorrhexis nodosa Labs: Hyperammonemia CNS: seizure, lethargy, coma, MR, ataxia GI: hepatomegaly, vomiting

question

Monilethrix

answer

mutation in hair cortex = keratin 1 (hHb1, KRT81), and 6 (hHb6 or KRT 86) Beaded nail = elliptical nodes along hair shaft, keratosis pilaris, brittle nail

question

Uncombable hair syndrome

answer

Pili trianguli et acanliculi, blond hair

question

AR woolly hair

answer

P2RY5 gene (G protein coupled R gene within retinoblastoma 1 gene) diffuse scalp woolly hair with variable hypotrichosis or sparse hair

question

Hypotrichosis simplex of scalp

answer

CDSN gene (encodes corneodesmosin) gradual progressive hair loss to complete loss by 3rd decade M=F

question

Naxos disease

answer

Plakoglobin woolly hair, keratoderma, R-sided cardiomyopathy

question

alternating light and dark bands of hair = trichoschisis

answer

"tiger-tail" banding Trichothiodystrophy = PIBIDS = Tay syndrome hair/nail low cysteine + methionine content

question

PIBIDS

answer

photosensitivity ichythyosis brittle hair intellectual impairment decreased fertility short

question

Anhidrotic ectodermal dysplasia (aka Christ-Siemens-Touraine syndrome)

answer

XLR, ectodysplasin A or ectodysplasin A receptor mutation periorbital wrinkles with hyperpigmentation atopic dermatitis sparse scalp and body hair longitudinal groove on EM dystrophic nails peg-shaped

question

Hidrotic ectodermal dysplasia (Clouston Syndrome)

answer

Connexin 30 (GJB6 mutation) PPK with transgradient, dystrophic nails, sparse hair with absent body/eyelash/eyebrow hair a/f puberty

question

EEC syndrome (Ectrodactyly-Ectodermal Dysplasia-Cleft Lip/palate)

answer

AD, EEC1, EEC2, EEC3 p63 gene mutation

question

AEC syndrome (Hay Wells)

answer

Ankyloblepharon-Ectodermal Dysplasia-Clefting, p63 gene, ectodermal dysplasia, cleft palate, ankyloblepharon filiforme adenatum

question

Rapp Hodgkin syndrome

answer

p63, mild form of AEC

question

p63 mutation

answer

AEC syndrome (Hay wells) Rapp Hodgkin syndrome

question

Branchio-oto-renal syndrome

answer

EYA1 gene ear pits + deafness + renal dysplasia

question

Tricho-rhino-phalangeal syndrome

answer

AR, AD (TRPS1 gene) sparse hair, pear-shaped broad nose, cone-shaped epiphyses

question

Trichodentoosseous syndrome

answer

DLX3 homeobox gene curly hair, dental pits, inc bone density

question

Dermatopathia Pigmentosa Reticularis (DPR)

answer

Keratin 14 gene, AD 1) Cutaneous reticulate hyperpigmentation 2) Noncicatrial alopecia** 3) Onychodystrophy

question

Keratin 14 mutation

answer

1) Dermatopathia Pigmentosa Reticularis 2) Baegeli-Fraseschetti-Jadassohn syndrome

question

Baegeli-Fraseschetti-Jadassohn syndrome

answer

Keratin 14 gene 1) Reticulate pigmentation 2) Palmoplantar hypohidrosis 3) Hyperkeratosis 4) Poor dentition -> loss of teeth

question

Costello Syndrome (aka Faciocutaneoskeletal syndrome)

answer

HRAS gene mutation thin anterior hair, curly hair nasolabial facial perianal papillomas redundant thickened skin around neck, palms, soles congenital myopathy with excess muscle spindles, coarse facial features, short, cardiac disability

question

Cardiofaciocutaneous syndrome mutations

answer

1) KRAS, 2) BRAF, 3) MEK1, 4) MEK2 RAS/ERK pathway

question

Clinical cardiofaciocutaneous syndrome

answer

sparse friable hair, ichthysosi, heart defects, MR, antimongoloid slant

question

Pachyonychia Congenita Type 1

answer

Jadassohn-Lewandowsky syndrome Keratin 6a, 16 focal PPK, staph/candidal paronychia, pincer nails, follicular hyperkeratosis of elbows, oral leukokeratosis

question

Pachyonychia Congenita type 2

answer

Jackson Lawler syndrome keratin 6b, 17 natal teeth + steatocystoma multiplex + eruptive vellus hair cysts

question

Pachyonychia Congenita type 3

answer

Schafer-Branauer syndrome leukokeratosis of cornea + type 1 features

question

Pachyonychia Congenita type 4

answer

Pachyonychia congenita tarda late onset 2nd or 3rd decade

question

White sponge nevus

answer

Keratin 4, Keratin 13 mutation AD white spongy overgrowth on mucous membrane (buccal mucosa MC)

question

Nail-Patella Syndrome (HOOD syndrome)

answer

LMX1B mutation, AD absent/hypoplastic patella b/l posterior iliac horns palmoplantar hyperhidrosis triangular lunulae Lester iris

question

Nevoid Basal cell syndrome (Gorlin syndrome)

answer

AD, patched gene (hedgehog signaling pathway) BCCs, palmoplantar pits, odontogenic jaw keratocysts, frontal bossing, bifid ribs, calc of falx cerebi, medullobastoma, ovarian fibromas/fibrosarcomas

question

Bazex syndrome

answer

XLD>>AD multiple BCC, follicular atrophoderma, hypohidrosis, hypotrichosis

question

Rombo Syndrome

answer

AD multiple BCC, milia, trichoepitheliomas, vermicular atrophoderma, acrocyanosis

question

Braun-Falco-Marghescu Syndrome

answer

Atrophoderma vermiculate, PPK, keratosis pilaris

question

Tuzin syndrome

answer

scrotal tongue atrophoderma vermiculata

question

Rasmusen syndrome

answer

Milia, trichoepithelioma, cylindromas

question

Trichoepitheliomas in syndromes

answer

Rombo syndrome Rasmusen syndrome Cowden Syndrome Brook-Spiegler syndrome

question

Familial cylindromatosis

answer

CYLD gene (AD, binds organelles to microtubules) cylindromas, eccrine spiradenoma

question

Cylindromas in syndromes

answer

1) Brook-Spiegler Syndrome 2) Familial Cylindromatosis

question

Brook-Spiegler Syndrome

answer

cylindromas, trichoepitheliomas

question

Birt-Hogg-Dube Syndrome

answer

Folliculin gene (FLCN), BHD gene, AD Fibrofolliculomas, trichodiscomas, acrocollagenomas, lipomas, oral fibromas medullary thyroid carcinoma, renal cell carcinoma, colon cancer

question

Schopf-Schulz Passarge syndrome

answer

AR hypotrichosis, hidrocystoma of eyelids, multiple palmar eccrine syringofibroadenomas

question

Myotonic dystrophy with multiple pilomatricoma

answer

beta catenin mutation (CTNNB1)

question

Gardner syndrome

answer

APC gene (b-catenin mediated transcription) colonic polps (CA 100% by age 50), epidermoid cyst with foci of pilomatricoma, CHRPE, facial/skull osteomas, desmoid tumor, extranumerary teeth

question

Cronkhite-Canada Syndrome

answer

sporadic GI polyps, nail atrophy, alopecia, generalized pigmentation, melanotic macules

question

Peutz-Jegher syndrome (Laugier-Hunziker syndrome)

answer

STK11/LKB1 (AD), serine threonine kinase tumor suppressor gene) Pigmented macules fingers/mouth/mucosa, GI hamartomatous polyps (small bowel), bleeding, intussusception, GI adeno, ovarian sex cord tumor, breast/pancreatic/endometrial CA

question

Muir-Torre Syndrome

answer

MSH2 gene (DNA mismatch repair) MLH1 gene (DNA mismatch repair) sebaceous neoplasm, keratoacanthomas GI/larynx carcinomas

question

Cowden syndrome

answer

PTEN, AD facial trichilemommas, oral papillomas, GI polyps, breast adenocarcinomas, thyroid CA

question

Bannayan-Riley-Ruvalcaba

answer

PTEN (AD) macrocephaly, genital lentigines, lipomas, MR

question

MEN type I (werner syndrome)

answer

Menin mutation (AD) parathyroid, pancreatic, pituitary angiofibromas, collagenomas, CALMs, lipomas, gingival macules

question

MEN type IIa (sipple)

answer

RET proto-oncogene, AD parathyroid, pheo, medullary thyroid macular/lichen amyloidosis

question

MEN type IIb (multiple mucosal neuromas)

answer

RET proto-oncogene, AD pheo, medullary thyroid marfanoid, mucosal neuroma

question

Dyskeratosis congenita

answer

dys-appear me! XLR -Dyskeratin gene (ribosomal RNA synthesis), AD - TERC gene (telomerase) poikiloderma, alopecia, nail atrophy, premalignant oral leukoplakia, pancytopenia

question

Familial dysplastic nevi/melanoma

answer

CDKN2A (p16 tumor suppressor gene), CDK4 (cyclin dependentkinase 4) dysplastic nevi, melanoma, panc CA

question

BRAF mutation

answer

common melanocytic nevi (dermal) MM

question

Li-Fraumeni

answer

p53 mutation, AD breast, brain, osteosarcoma, leukemia

question

WAS (Wiskott-Aldrich syndrome)

answer

XLR, WASP gene atopic dermatitis, thrombocytopenia + petechiae, purpura, GI blood, ICH, recurrent bacterial infxn decreased IgM, every other Ig elevated 20% lymphoreticular malignancy

question

Chronic Granulomatous Disease

answer

CYBA mutation (AR), CYBB (XLR) - both cytochrome subunits Diagnosed with nitroblue tetrazolium reduction assay

question

CGD clinical

answer

abnl WBC to produce respiratory burst recurrent pyoderma periorificial dermatitis osteomyelitis chronic diarrhea, HSM

question

Hyper IgE syndrome (Job Syndrome)

answer

IgE elevated, STAT3 gene mutation Pustules, excoriated papules, S.aureus Coarse facies, eczema, infxn (PNA, OM, sinusitis)

question

SCID

answer

XLR (MC, gamma chian IL-2 receptor gene) AR (Janus kinase 3 gene, JAK3) AD: IL7R gene mutation 20% 2/2 adenosine deaminase def candidal infxn, mucocutaneous, bacterial pyodermas, seb derm, PNA, aplastic thymus

question

Omenn syndrome

answer

AR form of SCID with erythroderma RAG-1, RAG-2 genes

question

Chronic mucocutaneous candidiasis

answer

AR or AD (ICAMI) AD + thyroid disease candida (severe in skin, mouth, nails)

question

APECED

answer

AIRE gene (autoimmune regulator gene), AR Addison's hypoparathyrodism, candidiasis

question

X-linked agammaglobulinemia (Bruton)

answer

BTK gene, all Igs decreased AR and AD forms

question

Common variable immunodeficiency

answer

IgG and IgA decreased +/- IgM decreased

question

Selective IgA def

answer

TNFRSF13B gene

question

Selective IgM deficiency

answer

IgM down

question

X-linked hyperIgM syndrome

answer

CD40LG inc IgM, dec IgA/IgE/IgG

question

Xeroderma Pigmentosum

answer

AR, defective DNA excision repair from UV many subtypes skin cancer, ectropion with vascularization, MR

question

Cockayne Syndrome

answer

several complementation groups inc sister chromatid exchanges

question

Cockayne Syndrome clinical

answer

photosensivity, poikiloderma, lipoatrophy on face, cachectic dwarf, salt/pepper retinal pigmentation, cataracts, CNS, MR, deafness NO inc skin cancer

question

Bloom Syndrome

answer

BLM gene (RecQprotein-like 2, ATP-dependent DNA helicase) photodistributed poikiloderma, facial dysmorphism, hypogamma, GI/resp infxn, hypogonadism CA: leukemia, lymphomas, GI adeno, oral/esophageal SCC

question

Rothmund-Thompson syndrome (poikiloderma congenitale)

answer

RecQL4 gene (DNA helicase) poikiloderma face/extensors, photosens, premalignant acral keratoses, nail dystrophy, solid tumors, hypogonadism

question

Werner syndrome

answer

RECQL2 (DNA helicase) sclerodermoid skin, chronic leg ulcers, alopecia, beaked nose, short, osteoporosis, hypogonadism, atherosclerosis, sarcomas

question

RecQL2 gene (DNA helicase)

answer

1) Werner syndrome 2) rothmund-thompson syndrome 3) bloom syndrome

question

Muir-Torre Syndrome

answer

MSH2, MLH1 (DNA mismatch repair), AD sebaceous adenomas, epitheliomas, carcinomas, KAs variant of HNPCC syndrome (visceral adeno)

question

Down syndrome

answer

elastosis perforans serpiginosa prenatal dx: low AFP in maternal serum and amniocentesis

question

Trisomy 8

answer

short nail, no patella

question

Kleinfelter syndrome

answer

XXXY or XXY tall, varicose, ulcers, scant hair, gynecomastia, testicular hypoplasia, antisocial behavior

question

Turner Syndrome

answer

XO webbed neck (remnant of cystic hygroma), keloids, hypoplastic nails, low-set ears, short, short 4th and 5th metacarpals, 1 amenorrhea from gonadal dysgenesis

question

Noonan Syndrome

answer

PTPN11 lower extremity lymphedema, nevi, CALMs, webbed neck, craniofacial abnl, short, CV abnl, MR

question

Familial dysautonomia (Riley-Day Syndrome)

answer

IKBKAP mutation decreased corneal sensation, lack of pain sensation, no fungiform papillae

question

Acidic keratin

answer

keratin 9-20 (type 1), lower mol weight, coded on chromosome 17q

question

Basic keratin

answer

keratin 1-8 (type 2), higher molecular weight, coded on chromosome 12q

question

suprabasal keratinocytes

answer

K1, 10 EHK, Unna-Thost pPK

question

palmoplantar suprabasilar epidermis keratin

answer

K1, 9 Epidermolytic PPK, Vorner PPK

question

Granular layer keratin

answer

keratin 2e, 10 ichthyosis bullosa of siemens

question

cornea keratin

answer

keratin 3, 12 corneal dystrophy

question

mucosal keratin

answer

keratin 4, 13 white sponge nevus

question

basal cell keratin

answer

keratin 5, 14 EBS

question

outer root sheath keratin hyperproliferative keratin

answer

keratin 6a, 16 pachyonychia congenita type 1, focal PPK

question

nail bed keratin

answer

keratin 6b, 17 pachyonychia congenita type 2

question

simple epithelium keratin

answer

keratin 8, 18 cryptogenic cirrhosis

question

Alkaptonuria

answer

AR, homogentisic acid oxidase blue-gray pigmentation on face, cartilage, tendons, cerumen, sweat blue-gray sclera, arthropathy dark urine

question

Osler's sign

answer

blue sclera

question

exogenous ochronosis

answer

hydroquinone inhibits homogentisic acid oxidase -> yellow brown pigment

question

pathway pigment

answer

Phenyalanine -> Tyrosine -> Homogentistic acid -> TCA cycle if inc homogentistic acid -> inc ochronotic pigment

question

Fabry disease

answer

alpha-galactosidase A, XLR acc of glycosphingolipids in vascular endothelium angiokeratomas, maltese cross, proteinuria, painful crisis, (paresthesia) on hands/feet, MIs, CVAs, corneal opacities (whorl-like)

question

indistinguishable from Fabry's on cutaneous exam

answer

Fabry's fucosidosis (a-L-fucosidase) sialodosis

question

angiokeratomas

answer

beta-galactosidase deficiency aspartylglucosaminururia fucosidosis sialodosis Fabry's

question

Gaucher disease

answer

acid beta-glucosidase (GBA) gene Type I: adult; Type II: infants Gaucher cells, ehrlenmeyer flask deformity in bone

question

Gaucher cells

answer

glucocerebroside in histiocytes in spleen, liver, BM, LN, brain

question

Mucopolysaccharidoses

answer

AR (except Hunter Syndrome: XLR) def of lysosomal enzymes responsible for breakdown of mucopolysaccharides hirsutism, coarse facies, MR, short, corneal clouding, cardiac failure, HSM,

question

Hunter

answer

ivory colored papules on angles of scapula thick skin 2/2 increased ermatan and heparan sulfate

question

hurler and schieie

answer

alpha-L-iduronidase

question

hunter

answer

iduronate sulfatase

question

sanfilippo

answer

multiple enzymes can be deficient

question

maroteaux-lamy

answer

arylsulfatase B

question

morquio

answer

heoxsamine 6-sulfatase or beta-galactosidase

question

multiple carboxylase deficiency

answer

biotinidase def or holocarboxylase synthetase def decreased free serum biotin periorificial/generalized dermatitis, candida infxn, alopecia, seizures, vomiting, hyperammonemia, Rx biotin 10mg/day

question

Phenylketonuria

answer

phenylalanine hydroxylase, AR inc phenylalanine inhibits tyrosine in melanogenesis toxic to CNS, generalized hypopig, eczema, mousy odor, blonde hair, blue eyes, sclerodermoid changes to skin

question

Homocystinuria

answer

cystathion beta-synthase inc homocysteine and methionine levels malar lfush, livedo reticularis, CV, leg ulcers, blonde, ectopia lentis (downard lens dislocation), marfanoid, MR, glaucoma

question

Acrodermatitis enteropathica

answer

intestinal Zn-specific transporter SLC39A4 perorificial, scalp, acral dermatitis erosions, alopecia, diarrhea, photophobia Rx: lifelong Zn supplementation

question

Wilson disease

answer

ATP7B gene (ATPase-copper transporting beta polypeptide) defect in biliary excretion of copper -> accumulation of copper in LV, brain, cornea, pretibial hyperpigmentation, blue lunale, hepatomegaly, Kayser-Fleischer ring, ataxia, dysarthria

question

Kayser-Fleischer ring

answer

yellow-brown copper discoloration in Descemet's membrane of cornea

question

Rx Wilson Disease

answer

penicillamine, liver transplant

question

Hemochromatosis and infxn

answer

increased susceptibility of Vibrio vulnificus and Yersinia infxns

question

Hemochromatosis

answer

HFE gene, hemojuveline HJV gene (AR) ferroprotein SCL40A1 gene (AD) Fe overload -> metallic grey hyperpigmentation, scant pubic hair, cardiac failure, polyarthritis

question

Nieman-Pick disease

answer

sphingomyelinase (AR)

question

accordion hand

answer

multicentric reticulohistiocytosis

question

dural calcifications and choroid attachments

answer

papillon-lefevre

question

bifid ribs

answer

basal cell carcinoma syndrome

question

nail-patella syndrome

answer

absent patella, b/l posterior iliac horns, radial head subluxation, b/l 1st rib to hypoplasia

question

broad thumbs

answer

Rubinstein-Taybi

question

Tuberous sclerosis

answer

calcification of tubers in basal ganglia

question

congenital hip dislocation

answer

EDS 7

question

cystic defects at end of long bones and skull

answer

infantile fibromatosis

question

enchondromas, chondrosarcomas, metacarpals with phleboliths

answer

Maffucci

question

Ehrlenmeyer flask deformity

answer

Gaucher

question

Dysostosis multiplex

answer

mucopolysaccharidosis

question

double-contoured railroad tram track calcification

answer

sturge-weber

question

clindodactyly

answer

down's, cornelia de lange, russell silver

question

hyperostosis of external auditory canal

answer

proteus syndrome

question

hypoplastic thumbs, radii, ulnae

answer

rothmund-thompson

question

intracranial calcification

answer

cockayne, TORCH infxn, dyskeratosis congenita

question

lytic bone cysts of hands iwth honeycombed pattern

answer

sarcoid

question

medulloblastoma

answer

nevoid basal cell syndrome

question

linear hyperostosis under affected skin (Melorheostosis)

answer

Linear scleroderma

question

occipital horns (exostoses)

answer

EDS9, menkes kinky hair disease

question

sphenoid wing dysplasia

answer

NF1

question

osteomyelitis -like

answer

sweet's

question

osteomas in maxilla, mandible

answer

gardner's

question

osteopathia striata (stripes on metaphases on long bones)

answer

focal dermal hypoplasia (goltz syndrome)

question

wormian bodies in sagittal suture and metaphyseal widening with spurs in long bones

answer

menkes kinky hair

question

waferlike calcifications on cartilage

answer

alkaptonuria

question

tufted phalanges

answer

clouston

question

thickening of calvarium

answer

clouston

question

anodontia

answer

hypomelanosis of ito incontinentia pigmenti

question

anodontia/pegged teeth

answer

incontinentia pigmenti

question

dental pits

answer

tuberous sclerosis

question

enamel dysplasia

answer

sjogren-larsson, herlitz JEB

question

natal teeth

answer

pachynonychia congenita type II (jackson sertole)

question

odontogenic cysts

answer

nevoid basal cell carcinoma syndrome, gardner syndrome

question

odontoid hypoplasia

answer

down and hurler's syndrome

question

peg shaped teeth

answer

anhidrotic ectodermal dysplasia

question

periodontitis

answer

papillon-lefevre, haim-munk, EHD 8

question

resorption of alveolar ridge (floating teeth)

answer

letterer-siwe (histiocytosis)

question

retention of primary teeth

answer

hyper IgE syndrome

question

angoid streaks

answer

angoid streaks APPLES A: anemia, sickle cell P: Pseudoxanthoma elasticum P: pagets disease of bone L: lead poisoning E: Ehlers Danlos S: sclerosus tuberous

question

blue sclerae

answer

Blue Sclerae All DEMON Fly Past A: Alkaptonuria D: Downs E: Ehler Danlos M: Marfans O: osteogenesis imperfecta N: nevus of oto F: Fanconi P: PXE

question

angoid streaks

answer

PXE

question

Atypical retinitis pigmentosa (glistening dot)

answer

Sjogren Larsson

question

blue sclerae

answer

osteogenesis imperfecta type 1, 2, 3 EHD

question

ruptured globe, keratoconus, retinal detachment, bleu sclerae

answer

EHD type 6

question

blue to yellow brown eyes

answer

tyrosinase positive albinism

question

blue to gray-blue eyes, prominent red reflex

answer

tyrosinase negative albinism

question

coloboma

answer

focal dermal hypoplasia

question

glaucoma

answer

NF1, sturge weber syndrome

question

eyelid string of pearls

answer

lipoid proteinosis

question

eyelid papillomas

answer

xeroderma pigmentosum

question

ectopia lentis upward

answer

marfans

question

ectopia lentis downward

answer

homocystinuria

question

juvenile posterior subcapsular lenticular opacity

answer

NF-II

question

anlkyloblepharon

answer

CHANDS, Hay-Wells syndrome

question

Lester iris (hyperpigmentation of papillary margin of iris)

answer

nail-patella syndrome

question

lisch nodules, optic gliomas

answer

NF-1

question

Optic atrophy

answer

biotinidase def

question

phakomas (astrocytic hamartomas of optic nerve)

answer

tuberous sclerosis

question

salt and pepper retina

answer

refsum syndrome, cockayne syndrome

question

retinis pigmentosa (salt & pepper)

answer

Refsum

question

retinal hemangioblastomas

answer

VHL syndrome

question

pingeculae

answer

gaucher syndrome

question

pseudoherpetic keratitis with blindness

answer

richner-hanhart syndrome (tyrosenemia type II) Rx: diet low tyrosine/phenyalanine

question

Reed syndrome

answer

multiple cutaneous and uterine leiomyomatosis, papillary renal cancer fumarate hydratase gene mutated (TCA cycle)

question

epitheloid blue nevi

answer

Carney complex (NAME/LAMB syndrome)

question

Griscelli syndrome

answer

myosin Va or Rab27a

question

difference btw Parkes-Weber syndrome and Klippel-Trenaunay Weber syndrome

answer

Parkes-Weber syndrome has arteriovenous fistulas

question

retention of primary teeth

answer

hyperIgE syndrome

question

main cause of death in dyskeratosis congenita

answer

pancytopenia

question

form of EBS with defect in actin assembly

answer

Kindler (KIND1 gene defect = distruption of actin assembly)

question

Riley-Day (Familial Dysautonomia)

answer

AR, defect on chromosome 9 lack of pain sensation, absent fungiform papillae, abnl histamine skin test, dec corneal sensation, hyperhidrosis

question

female carriers of chronic granulomatous disease increased incidence of:

answer

DLE, infections, apthous stomatitis

question

EDS + CAH

answer

tenascin-X

question

oculocutaneous albinism, pulm fibrosis, granulomatous colitis, plts without dense bodies

answer

Hermansky Pudlak syndrome (tyrosinase positive)

question

MC cutaneous neoplasm in Muir Torre Syndrome

answer

sebaceous adenoma

question

APECED

answer

1) addison's disease 2) HypoPTH 3) mucocutaneous candidiasis

question

erythropoietic protophyria

answer

photosensitivity! defective gene: ferrochelatase

question

Ichthyosis hystrix

answer

K1, 10

question

monilethrix

answer

AD "beaded" hair; a/w keratosis pilaris

question

myotonic dystrophy + multiple pilomatricomas

answer

beta-catenin

question

peg teeth

answer

incontinentia pigmenti, anhidrotic ectodermal dysplasia

question

enamel pits

answer

tuberous sclerosis

question

where to sample trichorrhexis invaginata?

answer

eyebrow

question

which porphyria inherited in AR type?

answer

CEP (congenital erythropoietic porphyria) all porphyria are autosominal dominant exCEPt one

question

receptor mutated in chronic mucocutaneous candidiasis disease (CMCD)?

answer

IL-17RA

question

PXE gene

answer

ABCC6 gene

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