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118 Cards in this Set
- Front
- Back
porphobilinogen deaminase gene
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Acute Intermittent Porphyria
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inactivation mutation of GNAS1
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Albright Hereditary Osteodystrophy
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Homogentisate 1,2-dioxygenase (HGO) deficiency - catabolic pathway of tyrosine, accumulation of homogentistic acid
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Alkaptonuria
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hairless gene
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Alopecia totalis
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p63 SAM (sterile alpha motif) domain
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Ankyloblepharon filiforme adenatum-ectodermal dysplasia-cleft plate (AEC) syndrome
aka Hay-Wells Syndrome |
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ATM gene
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Ataxia Telangiectasia (Louis-Bar)
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PTEN or MMAC1 defect
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Bannayan-Riley-Rubalcaba-Zonana Syndrome
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p57 (KIP2 gene)
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Beckwith-Wiedemann Syndrome
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AGPAT2 gene
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Berardinelli-Seip Syndrome
AR; Type 1 defects in glucose storage/lipodystrophy |
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Seipin or BSCL2 gene
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Berardinelli-Seip Syndrome
AR; Type 2 genedefects in glucose storage/lipodystrophy |
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BHD gene or FLCN gene (folliculin)
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Birt-Hogg-Dube Syndrome
AD |
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TIE-2 gene
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Birt-Hogg-Dube Syndrome
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CYLD gene
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Brook Spiegler Syndrome
AD |
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LEMD3 / LEM domain-containing 3 (or MAN1)
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Nuclear membrane protein -- an antagonist of bone morphogenic protein (BMP) and TGF-beta signaling
Buschke-Ollendorf Syndrome AD |
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PRKAR1A (protein kinase A regulatory subunit 1-alpha)
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Carney Complex
AD |
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NSDHL gene
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CHILD SYNDROME
(encodes 3B-hydroxysteroid dehydrogenase) causing impaired cholesterol biosythesis |
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FLG gene (filaggrin), Chr 1
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Ichthyosis Vulgaris
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No granular layer; Bx (anterior shin)
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Ichthyosis Vulgaris
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Testicular and ALL
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X-linked Ichthyosis
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increase cholesterol sulfate
Retention keratosis |
X-linked Ichthyosis
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Comma-shaped corneal opacities
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X-linked Ichthyosis
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mobility of LDL on LPE
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X-linked Ichthyosis
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Failure of labor: placental sulfatase
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X-linked Ichthyosis
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Kallman Syndrome
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X-linked Ichthyosis
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Keratin 1 and 10
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Bullous CIE
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EM: clumped keratin filaments
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Epidermolytic Hyperkeratosis
aka Bullous CIE |
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Keratin 2e
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Ichthyosis Bullosa of Siemens
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'Mauserung' (molting)
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Ichthyosis Bullosa of Siemens
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TGM1, ALOX12B, ALOXE3
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Congenital Ichthyosiform Erythroderma (CIE)
AKA Non-Bullous CIE |
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ABCA12 (ATP binding cassette A12)
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Harlequin Fetus
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spastic di/paraplegia, scissor gait
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Sjögren-Larsson Syndrome
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Zileuton (leukotriene blocker)
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Sjögren-Larsson Syndrome
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“Glistening dot” retinal degeneration
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Sjögren-Larsson Syndrome
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phytanoyl-CoA hydroxylase (PAHX) and peroxin 7 (PEX7)
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Refsum Syndrome
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Retinitis pigmentosa (salt & pepper) and sensironeural deafness
Arrhythmias w/ heart block, CHF |
Refsum Syndrome
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phytanic acid - replaces NL fatty acids in skin and organs
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Refsum Syndrome
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SPINK5 (serine-protease inhibitor LEKT1) gene
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Comel-Netherton Syndrome
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Trichorrhexis invaginata
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Comel-Netherton Syndrome
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GJB3 (connexin 31) or GJB4 (connexin 30.3)
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Erythrokeratoderma Variabilis(Mendes de Costa)
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Erythematous geographic patches; change shape/position daily
Fixed hyperkeratotic plaques w palms/soles Worsens till puberty then chronic, stable course |
Erythrokeratoderma Variabilis(Mendes de Costa)
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Gottron’s Syndrome
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Symmetric Progressive Erythrokeratoderma
Loricrin |
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Vascularized keratitis & sensorineural deafness
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KID Syndrome
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TOC locus
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Howell-Evans Syndrome
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esophageal carcinoma
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Howell-Evans Syndrome
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Starfish-shaped or linear keratoses
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Vohwinkel Syndrome
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Ly6/uPAR-related protein-1
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Mal de Meleda
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SLURP-1
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Mal de Meleda
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Glove-stocking PPK with transgrediens
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Mal de Meleda
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CTSC gene
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encoding cathepsin C
Papillon-LeFèvre Syndrome Haim-Munk Syndrome |
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Dural calcifications at the tentorium and choroid attachments
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Papillon-LeFèvre Syndrome
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arachnodactyly,
Cathepsin C defect |
Haim-Munk Syndrome
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tyrosine aminotransferase gene
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Richner-Hanhart Syndrome
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Severe keratitis (pseudoherpetic), photophobia ulceration, blindness
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Richner-Hanhart Syndrome
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Diffuse NEPPK erythematous border, non-transgredient
Woolly hair at birth RIGHT-sided cardiomyopathy |
Naxos Disease
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Striate EPPK
Woolly hair LEFT-sided cardiomyopathy |
Carvajal Syndrome
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Brunauer-Fohs-Siemens
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Non-Syndromic Focal/Striate PPK
desmoglein 1 (m/c), desmoplakin 1, desmocollin |
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PPK with scleroatrophy or sclerotylosis
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Huriez Syndrome
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WNT10A gene
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Schopf-Schulz-Passarge Syndrome
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Eyelid cysts (apocrine hydrocystomas in one report)
Hypodontia (may be profound – usu lack of secondary teeth), Hypotrichosis Eccrine tumors (syringofibradenoma, porocarcinoma both reported) |
Schopf-Schulz-Passarge Syndrome
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ceroid accumulation
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Hermansky-Pudlak Syndrome
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PTPN11 gene
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LEOPARD Syndrome
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PRKAR1A (protein kinase A regulatory subunit 1-alpha)
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Carney Complex
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Polyostotic fibrous dysplasia
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McCune-Albright Syndrome
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Pulmonic stenosis + CALMs
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Watson Syndrome
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methylation of H19 and IGF2 genes
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Russell-Silver Syndrome
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tubers-paraventricular calcifications
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TS
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RENAL angiomyolipomas
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TS
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lymphangiomyomatosis
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TS
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bilateral retinal hemangioblastomas
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Von Hippel Lindau
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Endoglin gene
TGF- binding protein essential for angiogenesis |
Osler-Weber-Rendu Syndrome
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ALK-1 or ACVRL1 gene (activin receptor-like kinase1)
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Osler-Weber-Rendu Syndrome
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Enchondromas
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Maffucci Syndrome
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Maffucci Syndrome w/o venous malformation
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Ollier Disease
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PTHR1 – parathyroid hormone receptor 1 gene
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Maffucci Syndrome
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FLT4
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encodes for VEGFR3 (endothelial growth factor receptor-3)
Nonne-Milroy Disease |
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Lymphangiosarcoma
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Nonne-Milroy Disease
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Congenital heart defect
Distichiasis |
Lymphedema-Distichiasis Syndrome
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FOXC2 gene (forkhead family transcription factor gene MFH1)
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Lymphedema-Distichiasis Syndrome
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blue-red macules
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NF1
soft, macule on trunk peri-puberty become dome-shaped thick vessel walls w wide lumina, neural dermal tissue |
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Pseudoatrophic macules
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NF1
skin colored slightly depressed macules decrease collagen in reticular dermis and increased perivascular neural tissue |
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NF assoc tumors
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JXG and NF1 and JMML
Glomus tumors |
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NF mc ortho finding
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scoliosis
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NF mc long bone dysplasia
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anterolateral bowing of tibia
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Unidentified Bright Objects (UBOs)
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seen MRI 80% NF1
not recommended for screening or monitoring |
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Optic glimoa
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tumor of optic nerve
15 -20% of NF1 3 yo symptomatic 6yo precocious puberty |
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NF1 ophtho eval
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<8 annual
8-18 yo every 2 yrs |
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Lower number of neruofibromas and higher level of?
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vitamin D
25-OH vitamin D |
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Lovastatin NF1
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RAS inhibition
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NF1 and GI
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gastrointestinal stromal tumors (GIST)
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triton tumor
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NF
malignant nerve sheat tumor that show Rhaboid differentiation |
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Ollier Disease
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non-hereditary disorder
mutilple endochondromas unilateral |
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Maffucci Syndrome
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non-heretditary
mutiple hamngiomas endochondromas |
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metachondromatosis
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multiple endochondromas and osteochondromas
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antigphospholipid syndrome check
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prothrombin G2021OA
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autoimmune progesterone dermatitis test
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intradermal testing with progesterone
luteal phase, pregnancy OCPs urticaria, eczematous, vesicular, papulovesicular, EM-like can have anaphlyaxisis and angioedema |
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Kelley-Seegmiller Syndrome
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Lesch-Nyhan Syndrome
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Juvenile Gout
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Lesch-Nyhan Syndrome
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Lesch-Nyhan Syndrome
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XLR 1/3 sporadic M >F
Hypoxathine-guanine phosphoribosyltransferase (HGPRT) deficiency 0-1 yo: hyperuricemia, hypotonia, renal insufficiency, MR 1-2 yo: self-mutilating behavior Fencing stance basal ganglia macrocytic anemia B12 Testicular atrophy |
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fighting stance
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Leish Nyhan
basal gangli |
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Macrocytic anemia
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B12
leish nyhan |
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Darier's Disease
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impairs trafficking of desmoplakin to the cells surface acantholysis
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hypoplastic nails radial side
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Nail-patella Syndrome
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Rubenstein-Taybi
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CREB binding protein (CBP)
EP300 gene (new; fxn S2 CBP) Sporadic |
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Rubenstein-Taybi assoc malignancies
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Medulloblastoma, neuroblastoma, meningioma, rhabdomyosarcoma, leukemias
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Dolichonychia
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long narrow nails
EDS Marfan's Hidrotic ED |
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Clouston's ED teeth?
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no teeth
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Bart-Pumphrey's Syndrome
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Knucle pads early childhood
Leukonychia variable improves with age Sensorineural deafness profound at birth variable and mild PPK Connexin 26, AD |
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Moon's or Fournier's molar
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mulberry molar
late congenital syphilis |
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retention of primary teeth
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Hyper IgE
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cerebellar gangliocytoma
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Lhermitte-Duclos
assoc with Cowden's |
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Vogt Triad
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TS
epilepsy, low intelligence, and adenoma sebaceum |
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TS gene
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regulate signaling by Rab GTPase
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Jackson-Lawler
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natal teeth
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Hyperpigmented band on nails and teeth
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cyclophosphamide
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McGrath ED with skin fragility
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trauma induced blistering
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Ectodysplasin A1
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Hypohidrotic ED
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AEC
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anklobelpharon Ectodysplasia Celfting
Hay-Wells P63 sterile alpha motif (SAM) dystrophic/absent nails, pegged teeth, scalp dermatitis |
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Tooth and Nail Syndrome
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Witkop or Trichodental Syndrome
MSX1 AD directs formation teeth and nails fine sparse hair missing or small teth small spoon shaped nails toenails |