Genoderms Flashcards

tumor suppressor gene
Terms Definitions
Allelic with NF-1 and associated with pulmonic stenosis?
Watson's
2nd m/c feature of NF-1
Crowe's sign
Two genetic syndromes with spontaneous keloid formatoin?
Goeminne syndrome (TKC, X-linked incomplete penetrance) (torticollis, renal dysplasia)
Rubinstein-Taybi (CREBBP defect) (AR)
Two genoderms associated with follicular atrophoderma?
-Conradi-Hunerman Happle
-Basex
What syndromes have been associated with atrophoderma vermiculatum?
-Rombo syndrome
-Nicolau-Balus syndrome
-Braun-Falco-Marghescu
-Tuzun syndrome
Main features of Bazex syndrome char. by follicular atrophoderma?
Multiple BCC's, hypotrichosis,
localizes hyphidrosis, X-linked dominant. DO NOT CONFUSE WITH BAZEX SYNDROME (ACRODERATOSIS PARANEOPLASTICA) CHAR. BY HYPERKER PLAQUES OF EARS, NOSE, CHEEKS, HANDS, FEET AND KNEES ASSOC. WITH CA'S OOF UPPER AERODIGESTIVE TRACT.
XL CHONDRODYSPLASIA PUNCTATA AKA?
CONRADI-HUNERMANN-HAPPLE.
(ICYHTOSIFORM SCALING ERYTHRODERMA, REPLACED BY BANDS OF FOLLICULAR ATROPHODERMA, STIPPLING CALCIFICATIONS OF EPIPHYSES.
Cutis Laxa
(Generalized elastolysis)
AR, fibulin 5 gene.
XLR, ATP7A gene. (ATPase impairs Cu transport nec. for lysyl oxidase activity)

-Loose, redundant pendulous skin folds with hound-dog facies.
-Pulm emphysema
-Deverticulae of GI tract
-deep voice from v.c. laxity
BASEX SYNDROME
-BCC'S
-ATROPHODERMA VERMICULATUM
-ZEABSORB-DON'T NEED ANY CAUSE YOU DON'T SWEAT
-EIC'S
-XLD, X-RATED TRICOEPITHELIOMAS
OTHER BASEX SYNDROME
(ACROKERATOSIS PARANEOPLASTICA)
HYPERKERATOTOIC PLAQUES OF EARS, NOSE, CHEEKS,HANDS, FEET AND CARCINOMAS OF UPPER AERODIGESTIVE TRACTS.
2 TYPES OF ANETODERMA
Jadassohn-Pellizari (preceeding inflammation)
Schweninger-Buzzi type
(no preceeding inflammation)
Atrophoderma of Pasini and Pierini
Ovoid patches/plaques with normal appearance anc "cliff-drop" borders.
X-linked recessive genodermatoses
-Chronic granulomatous dz
-Hunter's
-Anhidrotic Ectodermal dyspl
-Dyskeratosis Congenita
-SCID
-Kinky Hair-Menkes
-Wiskott Aldrich Syndrome
-Icthyosis (X-linked)
-Fabry
-G6PD Deficiency
-Lesch-Nyhan
X-linked dominant disorders?
CCFIB
-CHILD syn
-Conradi-Hunerman
-Focal Dermal Hypoplasia
-Incontinentia Pigmenti
-Basex/Bazac
Reticlated grey/brown hyperpigmentation, Poikoilodermatosis changes axilla and arm, alopecia, dystrophic nails and premalignant leukoplakia of buccal mucosa.
Dyskeratosis Congenita
XLR, DKC gene encoding dyskerin with effects on telomerase activity.
Wiskott-Aldrich?
XLR, WAS gene that encodes WASp important in lymphocyte and megakaryocyte signal transduction and actin filament assembly. Decreased IgM, elevated IgA,D,E, recurrent bacterial infections, eczema, eczema herpeticum, increased risk for lymphoma.
Chronic Granulomatous Disease?
XLR, gp91 (phagocyte oxidase) gene
AR-gp47, p67 ox genes

-Short stature
-recurrent granulomas
-suppurative LAD, etc.
XLR recessive form of SCID has a defect in what gene?
gamma chain of IL-2 receptor

-aut dom. on adenosine deaminase gene
-AR on JAK3 gene
Gene in Angiokeratoma corporis diffusum?
alpha galactosidase a

(Fabry's disease)
Defect in Hunters disease?
iduronate sulfatase
Defect in Christ-Seimens-Tourraine (Hypohidrotic Ectodermal dysplasia)
EDA gene
mutation in ectodysplasmin leads to defective regulation of ectoderal structures

-Sparse hair, frontal bossing , saddle nose, periorbital hyperpigmentation
Conradi-Hunermann Syndrome
(XL Dominant chrondrodysplasia punctata)
EBP gene
-mutation in this gene or in 3B-hydroxysteroid isomerase leads to a defect in cholesterol biosynthesis
-epiphyseal stippling, icthyosiform whorled erythroderma, scolosis, patchy alopecia.
ECM-1 mutation?
Lipoid proteinosis.

Also autoAb agaist ECM-1 in LS&A
Patients with osteopoikilosis (multiple well-circumscrbied oval-round opacities on x-ray) and dermatofibrosis lenticulais disseminata?
Bushke-Ollendorff
Col1A2 gene and Col1A1 gene are involved in Osteogenesis imperfecta and what other genoderm?
Arthrocholasia type of Ehlers Danlos (with congenital hip dislocations)
Osteopathia striata, telangiectatic linear streaks in Blaschko's lines, "Lobster Claw" deformity?
Goltz syndrome (Focal Dermal Hypoplasia)
Hutchinson Gilford Syndrome
aka progeria
-AD, lamin A gene (a nuclear envelope protein)
-Short stature, enlarged cranium, sclerodermoid changes, CVA's, CHF
Hoarse cry at birth, later on with pearly eyelid papules, verrucous papules of elbows, facial scarring?
Lipoid Proteinosis
-Mutation in ECM1 gene
Premature aging with slcerodermoid changes, leg ulcerations, pinched nose, canities?
Werner Syndrome

-RECQL2 gene ( a DNA helicase)
Gene in Peutz-Jeghers?
Description?
STK11
(catalyzes addition of serine to threonine)
-associated with breast cancer, ovarian cancer, hamaromatous polyps, gi ademocarcinoma
Gardner syndrome is an AD condition with CHRPE and multiple?
Gene?
Epidermoid Cysts
APC gene--> a tumor suppressor gene that regulates B-catenin-an adherins junction protein controlling cell growth and differentiation
Multiple hamartoma syndrome, with oral papilomas. Associated with BET-Breat, Endometrial and Thyroid CA?
Cowden
PTEN mutation (shared with Banayan-Riley)

GE hamartomas
Retain primary teeth
Hyper IgE syndrome

(abnormal facies, STAT3 gene, IL-6 and 10 signalling)
Type of EB with excessive granulation tissue-periorificial, neck, upper back, axillae
JEB, Herlitz

(Laminin 5)

Hemidesmosomes are absent in JEB-H, reduced in # and sie in JEB-nH
RDEB type with increased risk of SCC?
non-Hallopeau Seimens.

retain a specific fragmentof collagen 7
Targeted protein in Junctional Epidermolysis Bullosa-PA?
alpha 6 beta 4 integrin
Targeted protein in Junctional Epidermolysis Bullosa non-Herlitz?
BPAg 2 (aka Collagen 17)
Name three disorders associated with connexin 26 mutations?
1) Vohwinkel
2) KID syndrome
3) PPK with deafness
Mutation in connexin 30.3 and 31?
erythrokeratoderma variabilis
Mutation in connexin 30?
hidrotic ectodermal dyplasia
Keratin defects in corneal dystrophy of Meesmann?
Keratins 3 and 12
Defect in progeria?
lamin a
K's defective in white sponge nevus?
K 4 and 13
MENIIB
"Multiple mucosal neuroma syndrome"
RET protooncogene, AD, sporadic in 50%

MB-Marfanoid body, thick full lips, neuromas on tongue, pheo, megacolon
AKA Fibrofolliculomas with trichodiscomas and achrocordons?
Birt-Hogg-Dube Syndrome

"FARTS"
F-Fibrofolliculomas
A-Acrochordon
R-Renal cancer
T-Trichodiscomas
S-Spontaneous pneumothorax
Hoarse cry at birth?
Lipoid proteinosis
Inheritance and gene in Herlitz variant of JEB?
AR, LAMA 3 and LAMC2 genes encoding laminin 5 polypeptide chains
Variant of JEB with absent nails and granulation tissue periorally and on scalp, upper trunk?
Herlitz variant

(laminin 5)
Defect in assembly of collagen type 7 in DDEB?
sess severe DEB phenotype secondary to glycine substitutions that impace triple helix assembly
HHT I gene is also known as? associated with?
endoglin,
associated with pulmoary AV fistulas.

HHT2-hepatic AVM's, aka ALK1 gene
Cachectic Dwarf with microcephaly, thin nose, large ears and large hands and feet?
Cockayne syndrome
A-ERCC8
B-ERCC6
impairs DNA repair in active genes sepcifically.

"Salt and Pepper retinal pigmentation"

Photosensitive eruption in butterfly distribution on face
AKA poikiloderma congenitale? May present with poikilodermatous facial changes and Hypoplastic thumbs. Acral keratoses may present in childhood.
Roghtmund-Thompson
RecQL4 helicase gene

Also with alopecia, short stature and cataracts
Photosensitivity with photodistributed erythema, long narrow face, recurrent respiratory and GI infections, and high pitched voice?
Bloom syndrome
Trichothyiodystrophy is aka?
PIBIDS
Photosensitivity
Ichthyosis
Brittle Hair (sulfur deficient)
Intellectual impairment
Decreased Fertility
Short stature

Alternating light and dark bands with polarizing microscope

50% with same complementation group as XPD with ERCC2 gene defect
AR, with decreased absorption of tryptophan in intestine and kidney resulting in pellagra like symptoms?
Hartnup's disease
-defect in transport of neutral amino acids across brush border of epithelium of intesting and kidney
-massive urine amioaciduria and tryptophan derivatives

Management is niacin supplementation, good protein nutrition
Gene defect in MPSI (Hurler)?
alpha-L-Iduronidase

-AR inheritance
-coarse facies, cv involvement, respiratory compromise, joint stiffness, dermal melanocytosis
Gene defect in Hunter's (MPSII)?
Iduronate 2-sulatase

-XLR
Retinal degeneration (no corneal clouding like Hurler's)
Pebbly white skin lesions on scapulae
Pili torti, steel wool hair, lethargy, mental retardation, lax doughly skin and widening of metaphyseal bones on x-ray?
Menkes' Syndrome

aka occipital horn syndrome

XLR, ATP7A gene
Pili torti with Sensorineural deficits?
Bjornstad Syndrome
Lethargy, tricorrhexis nodosa and vomiting with hyperammonemia?
Argininosuccinic Aciduria

AR, Mutation in ASL leads to a deficiency in argininosuccinate lyase-second most common urea cycle defect

restrict protein, arginine supplementation. Liver transplant
Canal like groove along shaft of triangular-shaped hair on EM?
Uncombable hair syndrome (aka Pili trianguli et canaliculi)
AR disease characterized by glucocerebrosidase deficiency?
Gaucher's disease

accumulation of glucocerebrosidase in histiocytes
"Crumpled tissue paper" histiocye from bone marrow. Tapered femoral midshaft with widening of disatal femus (erlenmyer flask deformity)
Gaucher disease
Disorders with short stature in Ch. 13 Spitz?
Cornelia de Lange (NIPBL gene, synophyrs, hirsutism, curis marmorata)
Rubinstein-Taybi (3B's, 4C's)
Russell-Silver Syndrome (CALM's, triangular facies, downturned thin lips)
Familiam Dysautonomia (IKBKAP gene)
Rubinstein Taybi gene? Characteristic findings?
CREBBP gene, encoding a nuclear protein acting as a coactivator of cAMP
-3 B's
Broad thumbs, Big toes, Beak Nos
-4 C's
CNS problems,cryptidorchidism, cardiac problems, CREB protein)
Hyperlipoproteinemia with mutation in APOE gene?
Type III, defectve clearance of intermediate density lipoproteins and chylomicrons from the liver
-associated with xanthoma striata palmaris
Gene defect in homocystinuria?
cystathionine B-synthase
-accumulation of homocystine (increased along with methionine in urine and blood)
Generalized metallic-grey hyperpigmentation with increased intestinal iron absorption?
Hemochromatosis
Mutation in acrodermatitis enteropathica?
SLC39A4 gene encoding an intestinal zinc transporter
Mutation in ATB7B gene?
Wilson's disease.
-defect in biliary excretion of copper
-pretibial hyperpigmentation, blue lunulae
Elevated levels of this competitively inhibit tyrosine in melanogenesis and have toxic effects on CNS?
phenylalaline.

PKU patient's have uring with mousy odor and sclerodermoid changes of skin
Decreased free serum biotin and metabolic acidosis (and hyperammonemia) with these syndromes?
Multiple carboxylase deficiency
-Biotinidase deficiency
-Holocarboxylase synthetase deficiency (vomiting)

urine has organic aciduria
Ivory colored papules in cobblestone pattern between scapula an posterior axillary line?
Hunter's syndrome
-Iduronate sulfatase defect; accumularion of dermatan and heparin sulfate
Waxy induratino of skin, failure to thrve, foamy histiocyte on bone marrow biopsy?
Niemann-Pick disease
AR, sphingomyelin phospodiesterase-1 (SMPD-1 gene)
Enlarged lipid engorged macrophage with "crumpled tissue paper" appearance?
Gaucher disease
AR, acid-B-glucocidase gene locus
Natal teeth
Pachyonychia-Congenita type II
-K17 and K6b genes
Lobster claw deformity of hand, ectrodactyly of toes?
EEC syndrome
(ectrodactyly,-ectodermal dysplasia-cleft lip/palatesyndrome)
p63 gene in most cases (tumor suppressor gene reqd. for normal limb, craniofacial and epidermal morphognesis
Sparse hair, frontal bossing, periocular hyperpigmentation, peg teeth, thick everted lips and ectodysplasin, (TNF family), defect, AD?
Hypohidrotic Ectodermal Dysplasia, aka Christ-Seimens-Touraine syndrome
Which HHT has higher prevalence of pulmonary AVM's?
HHT1, ENG mutations

both ENG and ALK-1 (HHT2) encode a homodimeric protein that is a TGF-B receptor involved in vascular remodeling/signalling.

Mutations in MADH4 gene are found in HHT with juvenile polyposis
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