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118 Cards in this Set

  • Front
  • Back
porphobilinogen deaminase gene
Acute Intermittent Porphyria
inactivation mutation of GNAS1
Albright Hereditary Osteodystrophy
Homogentisate 1,2-dioxygenase (HGO) deficiency - catabolic pathway of tyrosine, accumulation of homogentistic acid
Alkaptonuria
hairless gene
Alopecia totalis
p63 SAM (sterile alpha motif) domain
Ankyloblepharon filiforme adenatum-ectodermal dysplasia-cleft plate (AEC) syndrome
aka Hay-Wells Syndrome
ATM gene
Ataxia Telangiectasia (Louis-Bar)
PTEN or MMAC1 defect
Bannayan-Riley-Rubalcaba-Zonana Syndrome
p57 (KIP2 gene)
Beckwith-Wiedemann Syndrome
AGPAT2 gene
Berardinelli-Seip Syndrome
AR; Type 1
defects in glucose storage/lipodystrophy
Seipin or BSCL2 gene
Berardinelli-Seip Syndrome
AR; Type 2
genedefects in glucose storage/lipodystrophy
BHD gene or FLCN gene (folliculin)
Birt-Hogg-Dube Syndrome
AD
TIE-2 gene
Birt-Hogg-Dube Syndrome
CYLD gene
Brook Spiegler Syndrome
AD
LEMD3 / LEM domain-containing 3 (or MAN1)
Nuclear membrane protein -- an antagonist of bone morphogenic protein (BMP) and TGF-beta signaling
Buschke-Ollendorf Syndrome
AD
PRKAR1A (protein kinase A regulatory subunit 1-alpha)
Carney Complex
AD
NSDHL gene
CHILD SYNDROME
(encodes 3B-hydroxysteroid dehydrogenase) causing impaired cholesterol biosythesis
FLG gene (filaggrin), Chr 1
Ichthyosis Vulgaris
No granular layer; Bx (anterior shin)
Ichthyosis Vulgaris
Testicular and ALL
X-linked Ichthyosis
increase cholesterol sulfate
Retention keratosis
X-linked Ichthyosis
Comma-shaped corneal opacities
X-linked Ichthyosis
 mobility of LDL on LPE
X-linked Ichthyosis
Failure of labor:  placental sulfatase
X-linked Ichthyosis
Kallman Syndrome
X-linked Ichthyosis
Keratin 1 and 10
Bullous CIE
EM: clumped keratin filaments
Epidermolytic Hyperkeratosis
aka Bullous CIE
Keratin 2e
Ichthyosis Bullosa of Siemens
'Mauserung' (molting)
Ichthyosis Bullosa of Siemens
TGM1, ALOX12B, ALOXE3
Congenital Ichthyosiform Erythroderma (CIE)
AKA Non-Bullous CIE
ABCA12 (ATP binding cassette A12)
Harlequin Fetus
spastic di/paraplegia, scissor gait
Sjögren-Larsson Syndrome
Zileuton (leukotriene blocker)
Sjögren-Larsson Syndrome
“Glistening dot” retinal degeneration
Sjögren-Larsson Syndrome
phytanoyl-CoA hydroxylase (PAHX) and peroxin 7 (PEX7)
Refsum Syndrome
Retinitis pigmentosa (salt & pepper) and sensironeural deafness
Arrhythmias w/ heart block, CHF
Refsum Syndrome
 phytanic acid - replaces NL fatty acids in skin and organs
Refsum Syndrome
SPINK5 (serine-protease inhibitor LEKT1) gene
Comel-Netherton Syndrome
Trichorrhexis invaginata
Comel-Netherton Syndrome
GJB3 (connexin 31) or GJB4 (connexin 30.3)
Erythrokeratoderma Variabilis (Mendes de Costa)
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)
Gottron’s Syndrome
Symmetric Progressive Erythrokeratoderma
Loricrin
Vascularized keratitis & sensorineural deafness
KID Syndrome
TOC locus
Howell-Evans Syndrome
esophageal carcinoma
Howell-Evans Syndrome
Starfish-shaped or linear keratoses
Vohwinkel Syndrome
Ly6/uPAR-related protein-1
Mal de Meleda
SLURP-1
Mal de Meleda
Glove-stocking PPK with transgrediens
Mal de Meleda
CTSC gene
encoding cathepsin C
Papillon-LeFèvre Syndrome
Haim-Munk Syndrome
Dural calcifications at the tentorium and choroid attachments
Papillon-LeFèvre Syndrome
arachnodactyly,
Cathepsin C defect
Haim-Munk Syndrome
tyrosine aminotransferase gene
Richner-Hanhart Syndrome
Severe keratitis (pseudoherpetic), photophobia ulceration, blindness
Richner-Hanhart Syndrome
Diffuse NEPPK erythematous border, non-transgredient
Woolly hair at birth
RIGHT-sided cardiomyopathy
Naxos Disease
Striate EPPK
Woolly hair
LEFT-sided cardiomyopathy
Carvajal Syndrome
Brunauer-Fohs-Siemens
Non-Syndromic Focal/Striate PPK
desmoglein 1 (m/c), desmoplakin 1, desmocollin
PPK with scleroatrophy or sclerotylosis
Huriez Syndrome
WNT10A gene
Schopf-Schulz-Passarge Syndrome
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
ceroid accumulation
Hermansky-Pudlak Syndrome
PTPN11 gene
LEOPARD Syndrome
PRKAR1A (protein kinase A regulatory subunit 1-alpha)
Carney Complex
Polyostotic fibrous dysplasia
McCune-Albright Syndrome
Pulmonic stenosis + CALMs
Watson Syndrome
methylation of H19 and IGF2 genes
Russell-Silver Syndrome
tubers-paraventricular calcifications
TS
RENAL angiomyolipomas
TS
lymphangiomyomatosis
TS
bilateral retinal hemangioblastomas
Von Hippel Lindau
Endoglin gene
TGF-  binding protein essential for angiogenesis
Osler-Weber-Rendu Syndrome
ALK-1 or ACVRL1 gene (activin receptor-like kinase1)
Osler-Weber-Rendu Syndrome
Enchondromas
Maffucci Syndrome
Maffucci Syndrome w/o venous malformation
Ollier Disease
PTHR1 – parathyroid hormone receptor 1 gene
Maffucci Syndrome
FLT4
encodes for VEGFR3 (endothelial growth factor receptor-3)
Nonne-Milroy Disease
Lymphangiosarcoma
Nonne-Milroy Disease
Congenital heart defect
Distichiasis
Lymphedema-Distichiasis Syndrome
FOXC2 gene (forkhead family transcription factor gene MFH1)
Lymphedema-Distichiasis Syndrome
blue-red macules
NF1
soft, macule on trunk
peri-puberty
become dome-shaped
thick vessel walls w wide lumina, neural dermal tissue
Pseudoatrophic macules
NF1
skin colored slightly depressed macules
decrease collagen in reticular dermis and increased perivascular neural tissue
NF assoc tumors
JXG and NF1 and JMML

Glomus tumors
NF mc ortho finding
scoliosis
NF mc long bone dysplasia
anterolateral bowing of tibia
Unidentified Bright Objects (UBOs)
seen MRI 80% NF1
not recommended for screening or monitoring
Optic glimoa
tumor of optic nerve
15 -20% of NF1
3 yo symptomatic 6yo
precocious puberty
NF1 ophtho eval
<8 annual
8-18 yo every 2 yrs
Lower number of neruofibromas and higher level of?
vitamin D
25-OH vitamin D
Lovastatin NF1
RAS inhibition
NF1 and GI
gastrointestinal stromal tumors (GIST)
triton tumor
NF
malignant nerve sheat tumor that show Rhaboid differentiation
Ollier Disease
non-hereditary disorder
mutilple endochondromas
unilateral
Maffucci Syndrome
non-heretditary
mutiple hamngiomas
endochondromas
metachondromatosis
multiple endochondromas and osteochondromas
antigphospholipid syndrome check
prothrombin G2021OA
autoimmune progesterone dermatitis test
intradermal testing with progesterone

luteal phase, pregnancy
OCPs
urticaria, eczematous, vesicular, papulovesicular, EM-like
can have anaphlyaxisis and angioedema
Kelley-Seegmiller Syndrome
Lesch-Nyhan Syndrome
Juvenile Gout
Lesch-Nyhan Syndrome
Lesch-Nyhan Syndrome
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
fighting stance
Leish Nyhan
basal gangli
Macrocytic anemia
B12
leish nyhan
Darier's Disease
impairs trafficking of desmoplakin to the cells surface acantholysis
hypoplastic nails radial side
Nail-patella Syndrome
Rubenstein-Taybi
CREB binding protein (CBP)
EP300 gene (new; fxn S2 CBP)
Sporadic
Rubenstein-Taybi assoc malignancies
Medulloblastoma, neuroblastoma, meningioma, rhabdomyosarcoma, leukemias
Dolichonychia
long narrow nails
EDS
Marfan's
Hidrotic ED
Clouston's ED teeth?
no teeth
Bart-Pumphrey's Syndrome
Knucle pads early childhood
Leukonychia variable improves with age
Sensorineural deafness profound at birth

variable and mild PPK

Connexin 26, AD
Moon's or Fournier's molar
mulberry molar
late congenital syphilis
retention of primary teeth
Hyper IgE
cerebellar gangliocytoma
Lhermitte-Duclos
assoc with Cowden's
Vogt Triad
TS
epilepsy, low intelligence, and adenoma sebaceum
TS gene
regulate signaling by Rab GTPase
Jackson-Lawler
natal teeth
Hyperpigmented band on nails and teeth
cyclophosphamide
McGrath ED with skin fragility
trauma induced blistering
Ectodysplasin A1
Hypohidrotic ED
AEC
anklobelpharon Ectodysplasia Celfting
Hay-Wells
P63 sterile alpha motif (SAM)

dystrophic/absent nails, pegged teeth, scalp dermatitis
Tooth and Nail Syndrome
Witkop or Trichodental Syndrome
MSX1 AD
directs formation teeth and nails
fine sparse hair
missing or small teth
small spoon shaped nails toenails