IMPORTANT SYNDROMES FOR MCQs
Acrodermatitis Enteropathica
Autosomal Recessive
SLC39A4
Scaly eczematous plaques over the perioral,perineal, and acral areas-hands /feet
AEC Syndrome (Hay-Wells Syndrome)
Autosomal Dominant
P63 -tumor protein- TP long arm of chromosome 3-
Erosive scalp dermatitis, 80% cleft lip/palate, ankyloblepharon, hypotrichosis
Albinism, Oculoculaneous Type 1
Autosomal Recessive ,TYR -tyrosinase-
Severe nystagmus, increased SCC risk. Pink nevi
Albinism, Oculocutaneous Type 2
Autosomal Recessive
- P protein defect-
Nystagmus, light brown hair, pigmented nevi
Albinism, Oculocutaneous Type 3
Autosomal Recessive
TRP- 1 -tyrosinase related protein-
Nystagmus, blue/brown iris. Light brown hair/skin
Albright Hereditary Osteodystrophy
Autosomal Dominant GNAS I - encodes a subunit for stimulatory G protein of adenylate cyclase: Gs- Pseudohypoparathyroidism, short stature, shortened fourth metacarpal, soft tissue calcification and ossification -i.e. osteoma cutis-
Alkaptonuria
Autosomal Recessive
HGD -homogentisate oxidase-
Dark urine on standing, ochronosis. valvular heart disease, arthritis. Renal calculi, red-black ear wax
Ataxia-Telangiectasia -Louis-Bar Syndrome
Autosomal Recessive
ATM -ataxia-telangiectasia mutated: chromosomal strand break repair-
Increased Leukemia/lymphoma. increased sensitivity to ionizing radiation, increased sinopulmonary infections, progressive ataxia, telangiectasias
Atrichia with Papules -Congenital Atrichia with Papules
Autosomal Recessive
HR -hairless gene: zinc finger-
Normal hair at birth but not replaced after hair sheds, follicular papules /± resembles keratosis pilaris/
Bannayan—Riley— Ruvalcaba Syndrome
Autosomal Dominant
PTEN -tumor suppressor gene-
Macrocephaly, lipomas, hemangiomas, genital lentigines , trichilemmomas. increased breast/thyroid/GI cancer (CA)
Bazex Syndrome /Bazex-Dupre-Christol
X Linked Dominant
Unknown -gene linked to Xq24—q27-
Multiple BCCs, hypotrichosis, hypohidrosis, follicular atrophoderma -circumscribed areas on dorsal hands/feet-
Beare-Stevenson Cutis Gyrata Syndrome
Autosomal Dominant
FGFR2 -fibroblast growth factor receptor 2-
Cutis gyrata, acanthosis nigricans, craniosynostosis -premature fusion of certain bones in skull-
Beckwith—Wiedemann Syndrome
Autosomal Dominant (<15%) CDKN1C (cyclin dependent kinase inhibitor I c, aka p57, or Kip2) Macroglossia, circular depression (helices of ears), gigantism, midline abdominal wall defects, neonatal hypoglycemia, organomegaly, increase in Wilms tumor
Berardinelli -Seip Syndrome (Congenital Generalized Lipodystrophy)
AR ,BSCL2
Acanthosis nigricans, type 2 diabetes mellitus, generalized lipodystrophy
Birt—Hogg—Dubé Syndrome
AD
FLCN (folliculin)
Increased Fibrofolliculomas, trichodiscornas, lipomas, increased CA (renal/colon/medullary thyroid), lung cysts
Bjornstad Syndrome
AR or AD ,BCSIL
Deafness, pili torti
Bloom Syndrome
AR ,BLM (RECQL3: DNA helicase)
Oral SCC, leukemiallymphoma. GI CA, increased infections, poikiloderma, photosensitivity hypogonadism
Brooke—Spiegler Syndrome
AD ,CYLD (cylindrornatosis)
Multiple .trichoepitheliomas, cýlindrornas, spiradenomas, ± BCCs
Bruton Agammaglobuhinemia
XLR BTK (Bruton tyrosine kinase) Decreased B cells with decreased Ig levels, eczema resembling atopic dermatitis, recurrent bacterial infections like impetigo/furunculosis (especially from encapsulated organisms)
Buschke-Ollendorf Syndrome
AD LEMD3 Osteopoikilosis, connective tissue nevi (dermatofibrosis lenticularis disseminata)
Carney Complex (LAMB Syndrome) (NAME Syndrome)
AD PRKARIΠ(protein kinase c-AMP-dependent regulatory type 1 a) Psammomatous schwannomas, thyroid disease, multiple lentigines, blue nevi. testicular tumors, cutaneous and cardiac myxomas
Chédiak-Higashi Syndrome
AR LYSTI (lysosomal transport) Oculocutaneous albinism, ataxia, giant lysosomal granules, muscle weakness
CHILD syndrome (Congenital Hemidysplasia with Ichthyosiform Erythroderma and Limb Defects)
XLD EBP gene (emopamil binding protein) Unilateral ichthyosiform erythroderma, limb/visceral hypoplasia, stippled epiphyses
Chondrodysplasia Punctata
XLR Arysulfatase E lchthyosis, sparse hair, stippled epiphyses (punctate chondral calcifications)
Chondrodysplasia Punctata, Rhizomelic
AR PEX7 (peroxisomal biogenesis disorder) Stippled epiphyses, accumulation of phytanic acid, folicular atrophoderma, scarring alopecia, cataracts, rhizomelia (striking shortening of proximal limbs)
Chondrodysplasia Punctate, XLD (Conradi_Hünermann—HappIe Syndrome)
XLD EBP (emoparnil-binding protein) Ichthyosiform erythroderma (along lines of Blaschko), follicular atrophoderma, patchy alopecia, cataracts, stippled epiphyses
Chronic Granulomatous Disease
XLR (mostly) CYBB (cytochrome B, b subunit > phagocyte NADPH oxidase defect, so unable to deliver respiratory burst for catalase-positive bacteria) Recurrent infections, initially with staph infections around ears/nose, lymphadenopathy, cutaneous abscesses, suppurative lymphadenitis
Citrullinemia
AD ASS (argininosuccinate synthetase, in urea cycle) Lethargy, poor feeding, seizures, vomiting
Cockayne Syndrome
AR ERCC8 (CSA) ERCC6 (CSB) Premature aging, cataracts, cachectic dwarfism, retinitis' pigmentosa, photosensitivity
Congenital Contracturai Arachnodactyly
AD FBN2 (fibriilin-2) Crumpled ears, arachnodactyly, long limbs, scoliosis
Congenital Ichthyosiform Erythroderma (NonbullouS CJE)
AR TGM1 (transglutaminase- 1) ALOX1 2B (lipoxygenase) ALOXE3 (lipoxygenase) Collodion membrane, generalized erythroderma with fine scaling (flexural involvement), palmoplantar keratoderma (PPK)
Cowden Syndrome (Multiple Hamartoma Syndrome)
AD PTEN (tumor suppressor gene) Trichilemmomas, oral papillomas, increased CA (breast, thyroid follicular, colon), fibrocystic breast changes, cobblestoning of mucosa
Cutis Laxa
AR FBLN5 (tibulin 5) Loose pendulous skin with decreased elasticity, diverticulae (bladder/Gi), pulmonary emphysema, pulmonary artery stenosis
Cutis Laxa
AD ELN (elastin), FBLN5 Loose pendulous skin, systemic involvement uncommon
Cutis Laxa (Occipital Horn Syndrome, EDS IX)
XLR ATP7A (copper transport disease) Mild skin laxity, skeletal malformations, GU tract abnormalities, joint laxity
Darier Disease (Darier—White Disease) (Keratosis Follicularis)
AD SERCA2(calcium-dependent ATPase 2A2) Acrokeratosis verruciformis, warty papules/plaques in seborrheic distribution, red/white longitudinal streaking of nails with v-shaped nicks at free margin
Dyskeratosis Congenita (Zinsser-Engrnan-Cole Syndrome)
XLR or AD DKC1 (dyskerin ribosome assembly chaperone) or TERC (telomerase RNA component) Reticulate gray brown hyperpigmentation dystrophic nails , alopecia, premalignant leukoplakia, pancytopenia. Continuous lacrimation,increased malignancy
EB Recessive Dystrophic (RDEB-HS)(Hallopeau-Siemens) Split at sublamina densa
AR Type VII collagen (premature termination codon) Severe widespread bullae at birth, scarring on hands/feet (mitten deformity), nail dystrophy, mucosal strictures, increased oral/esophageal/skin SCCs
EB, Dominant Dystrophic (DDEB) (Cockavne-Touraine)
AD Type VII collagen (anchoring fìbrils) Bullae mainly over extremities., nail dystrophy. less severe than RDEB
EB Simplex (Dowling-Meara) Split at basal layer
AD K5/14 (EM: clumped tonofilaments in basal layer) Herpetiform bullae, early death, PPK, nail dystrophy, mucosal involvment (laryngeal, esophageal)
ER Simplex (EBS) (Weber-Cockayne) (Localized)
AD K5/14 (keratin) Onset in childhood, bullae mainly in extremities (hands. feet). heals without scarring
EBS with Muscular Dystrophy
AR Plectin (hemidesmosome) Muscular (myotonic) dystrophy, wide-spread bullae at birth, scarring, early death
EB Junctional (JEB)(Herlitz) (EB Lethalis) Split at lamina lucida
AR LAMA3 (subunit of laminin 5, now called laminin 332 ) (premature termination codon) Widespread bullae, exuberant perioral granulation tissue, early death, enamel defects, severe mucosal involvement (respiratory/GI tract), ± hoarseness
EB Junctional (Non-Herlitz) (Generalized Atrophic Benign EB)
AR Laminin 332 (5) or BPAG2 Bullae, mild oral involvement, scarring alopecia, improves over time
EB Junctional with Pyloric Atresia
AR a6b4 (integrin) Bullae, pyloric atresia, hydronephrosis. mucosal erosions
Ectodermal Dysplasia with Skin Fragility
AD Plakophilin 1 and 2 (mainly) Fragile bullae and erosions/crust, perioral fissuring and cheilits, PPK, nail dystrophy
EEC Syndrome (Ectrodactyly, Ectodermal Dysplasia, Cleft Lip/Palate)
AD p63 gene cleft lip/palate , ectodermal dysplasia, ectrodactyly (absence of one or more central digits of hand or foot. also called 'lobster claw deformity')
Epidermodysplasia Verruciformis
AR EVER1, EVER2 Abnormal susceptibility to human papillomaviruses of the skin (often HPV5/8/47), t SCCs
Epidermolytic Hyperkeratosis (Generalized ERK) (Bullous CJE)
AD K1, K10 (clumping of keratin filaments in suprabasal layers) Erythema/blistering in infancy and replaced by hyperkeratosis (flexural predominance)
Erythrokeratodermia Variabilis (Mendes da Costa)
AD (mainly) GJB3 and GJB4 (connexin 31 and 30.3) Transient erythematous figurate patches, fixed hyperkeratotic plaques
Fabry Disease (Angiokeratoma Corporis Diffusum)
XLR a-Galactosidase A Angiokeratornas, pain/paresthesia of limbs, whorled corneal opacities, hypohidrosis, renal and coronary insufficiency. "maltese crosses" (birefringent lipids in urine)
Familial Mediterranean Fever (FMF)
AR MEFV (pyrin, also known as marenostrin) Recurrent febrile episodes with self-limited but painful episodes of synovitis, peritonitis, pleuritis
Familial Partial Lipodystrophy FPLD
AD LMNA (lamins A and C) Absence of subcutaneous fat, muscular appearing arms and legs, acanthosis nigricans, diabetes mellitus
Focal Dermal Hypoplasia (Goltz Syndrome)
XLD POCRN (X chromosome: encodes acyltransferase) Alopecia, fat herniation. osteopathia striata,mucocutafleous papillomas. and enamel pits
Gardner Syndrome (Familial Polyposis of the Colon)
AD APC (adenomatosis polyposis coli) GI polyps, t colon cancer. osteomas (jaw), supernumerary teeth, epidermoid cvsts CHRPE (congenital hypertrophy retinal pigment epithelium)
Gaucher Disease
AR b -Glucosidase (also known as glucocerebrosidase) Erlenmeyer flask bone deformity, bone pain, aseptic necrosis, hepatosplenomegaly, ± CNS involvement
Gorlin Syndrome (Nevoid BCC Syndrome) (Basal Cell Nevus Syndrome)
AD PTCH (patched mutation > SMO activation [Hedgehog pathway] resulting in Gli) Palmoplantar pits, jaw cysts, bifid ribs, ovarian fìbromas medulloblastomas falx calcification
Griscelli Syndrome
AR Rab27A MyO5A (myosin V) Pancytopenia, immunodeficiency, silvery gray hair, partial albinism, increased infections, neurological impairment
Hailey—Hailey Disease (Familial Benign Chronic Pemphigus)
AD ATP2C 1 (golgi-associated Ca2 ATPase, interferes with intracellukir calcium signaling) Flaccid blisters and erosions in intertriginous areas with vegetating plaques
Haim-Munk Syndrome
AR Cathepsin C Erythematous PPK, onychogryphosis, periodontitis, early loss of teeth, acro-osteolysis
Harlequin Fetus
AR ABCA 12 Restrictive plate-like scales. eclabium. Death due to respiratory difficulty and/or sepsis
Hartnup Disease
AR SLC6AI 9 (defective intestinal/renal neutral amino acid transport) Pellagra-like dermatosis with photosensi tivity, ataxia, tremors
Hereditary Angioedema
AD SERPING 1 (gene for C1-INH, serine protease inhibitor) Episodes of nonpitting swelling (angioedema), ± abdominal pain, diarrhea paroxysmal colicky pain
Hereditary Congenital Lymphedema (Nonne-Miiroy)
AD VEGFR3 (FLT4) Congenital lymphedema, chylous ascites,bilateral pleural effusions
Hereditary Hemorrhagic Telangiectasia (Osier-Weber- Rendu)
AD ENG (endoglin) ACVRLI (ALK1) Pulmonary and hepatic AVMs. Recurrent epistaxis. vi sceral hemorrhages (especially GI). telangiectasias
Hermansky-Pudlak Syndrome (HPS)
AR HPS (lysosomal transport protein) Oculocutaneous albinism, no dense bodies in platelets, t bleeding, granulomatous colitis, pulmonary fibrosis
Hidrotic Ectodermal Dysplasia (Clouston Syndrome)
AD GJB6 (connexin 30: gap junction protein) PPK, nail dystrophy, sparse hair, patchy alopecia, normal teeth, normal sweating, tufting of the terminal phalanges
Holocarboxylase Synthetase Deficiency
HLCS (holocarboxylase synthetase)
Alopecia,
perioral and perianal scaly dermatitis, lethargy, difficulty feeding
Homocystinuria
AR CBS (cystathione b-synthetase) Marfanoid habitus, downward displaced lens (ectopia lentis), thromboembolic events, neurologic features
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