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Medical Derm Revision > Genoderm Summary Table > Flashcards

Genoderm Summary Table Flashcards

1
Q

Acrodermatitis Enteropathica

A

Acrodermatitis Enteropathica - AR - SLC39A4 - Scaly eczematous plaques: perioral, perianal, hands, feet, scalp

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2
Q

AEC Syndrome (Hay-Wells Syndrome)

A

AEC Syndrome (Hay-Wells Syndrome) - AD - P63 (p63 protein) - Erosive scalp dermatitis, 80% cleft lip/palate, ankyloblepharon, hypotrichosis

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3
Q

Albinism, Oculocutaneous Type 1

A

Albinism, Oculocutaneous Type 1 - AR - TYR (tyrosinase) - Severe nystagmus, incr SCC risk, pink nevi

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4
Q

Albinism, Oculocutaneous Type 2

A

Albinism, Oculocutaneous Type 2 - AR - OCA2 gene (P protein) - most frequent form in Africans. Nystagmus, light brown hair, pigmented nevi

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5
Q

Albinism, Oculocutaneous Type 3

A

Albinism, Oculocutaneous Type 3 - AR - TRP-1 (tyrosine-related protein) - Nystagmus, blue/brown iris, light brown hair/skin

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6
Q

Albright Hereditary Osteodystrophy

A

Albright Hereditary Osteodystrophy - AD - GNAS1 (encodes alpha subunit for stimulatory G protein of adenylate cyclase: Gs) - Pseudohypoparathyroidism, short stature, shortened 4th metacarpal, soft tissue calcification and ossification (i.e. osteoma cutis)

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7
Q

Alkaptonuria

A

Alkaptonuria - AR - HGD (homogentisate oxidase) - Dark urine on standing, ochronosis, valvular heart disease, arthritis, renal calculi, red-black ear wax

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8
Q

Ataxia-Telangiectasia (Louis-Bar Syndrome)

A

Ataxia-Telangiectasia (Louis-Bar Syndrome) - AR - ATM (ataxia-telangiectasia mutated: chromosomal strand break repair) - incr Leukemia/lymphoma, incr sensitivity to ionizing radiation, incr sinopulmonary infections, progressive ataxia, telangiectasias

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9
Q

Atrichia with Papules (Congenital Atrichia with Papules)

A

Atrichia with Papules (Congenital Atrichia with Papules) - AR - HR (hairless gene: zinc finger) - Normal hair at birth but not replaced after hair sheds, follicular papules (± resembles keratosis pilaris)

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10
Q

Bannayan-Riley-Ruvacalba Syndrome

A

Bannayan-Riley-Ruvacalba Syndrome - AD - PTEN (tumor suppressor gene) - Macrocephaly, lipomas, hemangiomas, genital lentigines, trichilemmomas, incr breast/thyroid/GI CA

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11
Q

Bazex Syndrome (Bazex-Dupre-Christol)

A

Bazex Syndrome (Bazex-Dupre-Christol) - XLD - Unknown (gene linked to Xq24-q27) - Multiple BCCs, hypotrichosis, hypohidrosis, follicular atrophoderma (circumscribed areas on dorsal hands/feet)

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12
Q

Beare-Stevenson Cutis Gyrata Syndrome

A

Beare-Stevenson Cutis Gyrata Syndrome - AD - FGFR2 (fibroblast growth factor receptor 2) - Cutis gyrata, acanthosis nigricans, craniosynostosis (premature fusion of certain bones in skull)

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13
Q

Beckwith-Wiedemann Syndrome

A

Beckwith-Wiedemann Syndrome - AD (<15%) - CDKN1C (cyclin-dependent kinase inhibitor 1c, aka p57 or Kip2) - Macroglossia, circular depression (helices of ears), gigantism, midline abdominal wall defects, neonatal hypoglycemia, organomegaly, incr Wilms tumor

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14
Q

Berardinelli-Seip Syndrome (Congenital Generalized Lipodystrophy)

A

Berardinelli-Seip Syndrome (Congenital Generalized Lipodystrophy) - AR - BSCL2 - Acanthosis nigricans, type 2 diabetes mellitus, generalized lipodystrophy

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15
Q

Birt-Hogg-Dubé Syndrome

A

Birt-Hogg-Dubé Syndrome - AD - FLCN (folliculin) - incr Fibrofolliculomas, trichodiscomas, lipomas, incr CA (renal/colon/medullary thyroid), lung cysts

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16
Q

Björnstad Syndrome

A

Björnstad Syndrome - AR, AD - BCS1L - Deafness, pili torti

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17
Q

Bloom Syndrome

A

Bloom Syndrome - AR - BLM (RECQL3: DNA helicase) - Oral SCC, leukemia/lymphoma, GI CA, incr infections, poikiloderma, photosensitivity, hypogonadism

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18
Q

Brooke-Spiegler Syndrome

A

Brooke-Spiegler Syndrome - AD - CYLD (cylindromatosis) - Multiple trichoepitheliomas, cylindromas, spiradenomas, ± BCCs

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19
Q

Bruton Agammaglobulinemia

A

Bruton Agammaglobulinemia - XLR - BTK (Bruton tyrosine kinase) - Decr B cells with decr Ig levels, eczema resembling atopic dermatitis, recurrent bacterial infections like impetigo/furunculosis (especially encapsulated organisms)

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20
Q

Buschke-Ollendorf Syndrome

A

Buschke-Ollendorf Syndrome - AD - LEMD3 - Osteopoikilosis, connective tissue nevi (dermatofibrosis lenticularis disseminata)

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21
Q

Carney Complex (LAMB, NAME)

A

Carney Complex (LAMB, NAME) - AD - PRKAR1_ (protein kinase c-AMP-dependent regulatory type 1 _) - Psammomatous schwannomas, thyroid disease, multiple lentigines, blue nevi, testicular tumors, cutaneous and cardiac myxomas

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22
Q

Chédiak-Higashi Syndrome

A

Chédiak-Higashi Syndrome - AR - LYST1 (lysosomal transport) - Oculocutaneous albinism, ataxia, giant lysosomal granules, muscle weakness

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23
Q

CHILD syndrome (Congenital Hemidysplasia with Ichthyosiform Erythroderma and Limb Defects)

A

CHILD syndrome (Congenital Hemidysplasia with Ichthyosiform Erythroderma and Limb Defects) - XLD - NSDHL gene mutation - Unilateral ichthyosiform erythroderma, limb/visceral hypoplasia, stippled epiphyses

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24
Q

Chondrodysplasia Punctata

A

Chondrodysplasia Punctata - XLR - Arylsulfatase E - Ichthyosis, sparse hair, stippled epiphyses (punctate chondral calcifications)

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25
Q

Chondrodysplasia Punctata, Rhizomelic

A

Chondrodysplasia Punctata, Rhizomelic - AR - PEX7 (peroxisomal biogenesis disorder) - Stippled epiphyses, accumulation of phytanic acid, follicular atrophoderma, scarring alopecia, cataracts, rhizomelia (striking shortening of proximal limbs)

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26
Q

Chondrodysplasia Punctate, XLD (Conradi-Hünermann-Happle Syndrome)

A

Chondrodysplasia Punctate, XLD (Conradi-Hünermann-Happle Syndrome) - XLD - EBP (emopamil-binding protein) - Ichthyosiform erythroderma (along lines of Blaschko), follicular atrophoderma, patchy alopecia, cataracts, stippled epiphyses

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27
Q

Chronic Granulomatous Disease

A

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

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28
Q

Citrullinemia

A

Citrullinemia - AD - ASS (arginosuccinate synthetase, in urea cycle) - Lethargy, poor feeding, seizures, vomiting

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29
Q

Cockayne Syndrome

A

Cockayne Syndrome - AR - ERCC8 (CSA) & ERCC6 (CSB) - Premature aging, cataracts, cachectic dwarfism, retinitis pigmentosa, photosensitivity

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30
Q

Congenital Contractural Arachnodactyly

A

Congenital Contractural Arachnodactyly - AD - FBN2 (fibrillin-2) - Crumpled ears, arachnodactyly, long limbs, scoliosis

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31
Q

Congenital Ichthyosiform Erythroderma (Nonbullous CIE)

A

Congenital Ichthyosiform Erythroderma (Nonbullous CIE) - AR - TGM1 (transglutaminase-1) & ALOX12B (lipoxygenase) & ALOXE3 (lipoxygenase) - Collodion membrane, generalized erythroderma with fine scaling (flexural involvement), palmoplantar keratoderma (PPK)

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32
Q

Cowden Syndrome (Multiple Hamartoma Syndrome)

A

Cowden Syndrome (Multiple Hamartoma Syndrome) - AD - PTEN (tumor suppressor gene) - Trichilemmomas, oral papillomas, incr CA (breast, thyroid follicular, colon), fibrocystic breast changes, cobblestoning of mucosa

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33
Q

Cutis Laxa

A

Cutis Laxa - AR - FBLN5 (fibulin 5) - Loose pendulous skin with decreased elasticity, diverticulae (bladder/GI), pulmonary emphysema, pulmonary artery stenosis

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34
Q

Cutis Laxa

A

Cutis Laxa - AD - ELN (elastin), FBLN5 - Loose pendulous skin, systemic involvement uncommon

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35
Q

Cutis Laxa (Occipital Horn Syndrome, EDS IX)

A

Cutis Laxa (Occipital Horn Syndrome, EDS IX) - XLR - ATP7A (copper transport disease) - Mild skin laxity, skeletal malformations, GU tract abnormalities, joint laxity

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36
Q

Darier Disease (Darier-White Disease) (Keratosis Follicularis)

A

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

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37
Q

Dyskeratosis Congenita (Zinsser-Engman-Cole Syndrome)

A

Dyskeratosis Congenita (Zinsser-Engman-Cole Syndrome) - Various (see right) - XLR - DKC1 (dyskerin: ribosome assembly chaperone), AD - TERC (telomerase RNA component) - Reticulate gray brown hyperpigmentation, dystrophic nails, alopecia, premalignant leukoplakia, pancytopenia, continuous lacrimation, incr malignancy

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38
Q

EB Recessive Dystrophic (RDEB-HS) (Hallopeau-Siemens)

A

EB Recessive Dystrophic (RDEB-HS) (Hallopeau-Siemens) - AR - Type VII collagen (premature termination codon) - Severe widespread bullae at birth, scarring on hands/feet (mitten deformity), nail dystrophy, mucosal strictures, incr oral/esophageal/skin SCCs

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39
Q

EB, Dominant Dystrophic (DDEB) (Cockayne-Touraine)

A

EB, Dominant Dystrophic (DDEB) (Cockayne-Touraine) - AD - Type VII collagen (anchoring fibrils) - Bullae mainly over extremities, nail dystrophy, less severe than RDEB

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40
Q

EB Simplex (Dowling-Meara)

A

EB Simplex (Dowling-Meara) - AD - K5/14 (EM: clumped tonofilaments in basal layer) - Herpetiform bullae, early death, PPK, nail dystrophy, mucosal involvement (laryngeal, esophageal)

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41
Q

EB Simplex (EBS) (Weber-Cockayne) (Localized)

A

EB Simplex (EBS) (Weber-Cockayne) (Localized) - AD - K5/14 (keratin) - Onset in childhood, bullae mainly in extremities (hands, feet), heals without scarring

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42
Q

EBS with Muscular Dystrophy

A

EBS with Muscular Dystrophy - AR - Plectin (hemidesmosome) - Muscular (myotonic) dystrophy, widespread bullae at birth, scarring, early death

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43
Q

EB Junctional (JEB) (Herlitz) (EB Lethalis) - Split at lamina Lucida

A

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

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44
Q

EB Junctional (Non-Herlitz) (Generalized Atrophic Benign EB)

A

EB Junctional (Non-Herlitz) (Generalized Atrophic Benign EB) - AR - Laminin 332 (5) or BPAG2 - Bullae, mild oral involvement, scarring alopecia, improves over time

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45
Q

EB Junctional with Pyloric Atresia

A

EB Junctional with Pyloric Atresia - AR - _6_4 (integrin) - Bullae, pyloric atresia, hydronephrosis, mucosal erosions

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46
Q

Ectodermal Dysplasia with Skin Fragility

A

Ectodermal Dysplasia with Skin Fragility - AD - Plakophilin 1 and 2 (mainly) - Fragile bullae and erosions/crust, perioral fissuring and cheilitis, PPK, nail dystrophy

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47
Q

EEC Syndrome (Ectrodactyly, Ectodermal Dysplasia, Cleft Lip/Palate)

A

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’)

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48
Q

Epidermodysplasia Verruciformis

A

Epidermodysplasia Verruciformis - AR - EVER1, EVER2 - Abnormal susceptibility to human papillomaviruses of the skin (often HPV 5/8/47), incr SCCs

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49
Q

Epidermolytic Hyperkeratosis (Generalized EHK) (Bullous CIE)

A

Epidermolytic Hyperkeratosis (Generalized EHK) (Bullous CIE) - AD - K1, K10 (clumping of keratin filaments in suprabasal layers) - Erythema/blistering in infancy and replaced by hyperkeratosis (flexural predominance)

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50
Q

Erythrokeratoderma Variabilis (Mendes da Costa)

A

Erythrokeratoderma Variabilis (Mendes da Costa) - AD (mainly) - GJB3 and GJB4 (connexin 31 and 30.3) - Transient erythematous figurate patches, fixed hyperkeratotic plaques

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51
Q

Fabry Disease (Angiokeratoma Corporis Diffusum)

A

Fabry Disease (Angiokeratoma Corporis Diffusum) - XLR - _-Galactosidase A - Angiokeratomas, pain/paresthesia of limbs, whorled corneal opacities, hypohidrosis, renal and coronary insufficiency, ‘maltese crosses’ (birefringent lipids in urine)

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52
Q

Familail Mediterranean Fever (FMF)

A

Familail Mediterranean Fever (FMF) - AR - MEFV (pyrin, also known as marenostrin) - Recurrent febrile episodes with self-limited but painful episodes of synovitis, peritonitis, pleuritis

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53
Q

Familial Partial Lipodystrophy (FPLD)

A

Familial Partial Lipodystrophy (FPLD) - AD - LMNA (lamins A and C) - Absence of subcutaneous fat, muscular appearing arms/legs, acanthosis nigricans, diabetes mellitus

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54
Q

Focal Dermal Hypoplasia (Goltz Syndrome)

A

Focal Dermal Hypoplasia (Goltz Syndrome) - XLD - POCRN (X chromosome: encodes acyltransferase) - Alopecia, fat herniation, osteopathia striata, mucocutaneous papillomas and pits

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55
Q

Gardner Syndrome (Familial Polyposis of the Colon)

A

Gardner Syndrome (Familial Polyposis of the Colon) - AD - APC (adenomatosis polyposis coli) - GI polyps, incr colon cancer, osteomas (jaw), supernumerary teeth, epidermoid cysts, CHRPE (congenital hypertrophy retinal pigment epithelium)

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56
Q

Gaucher Disease

A

Gaucher Disease - AR - _-Glucosidase (also known as glucocerebrosidase) - Erlenmeyer flask bone deformity, bone pain, aseptic necrosis, hepatosplenomegaly, ± CNS involvement

57
Q

Gorlin Syndrome (Nevoid BCC Syndrome) (Basal Cell Nevus Syndrome)

A

Gorlin Syndrome (Nevoid BCC Syndrome) (Basal Cell Nevus Syndrome) - AD - PTCH (patched mutation _ SMO activation [Hedgehog pathway] resulting in incr Gli) - Palmoplantar pits, jaw cysts, bifid ribs, ovarian fibromas, medulloblastomas, falx calcification

58
Q

Griscelli Syndrome

A

Griscelli Syndrome - AR - Rab 27 A & MyO5A (myosin V) - Pancytopenia, immunodeficiency, silvery gray hair, partial albinism, incr infections, neurological impairment

59
Q

Hailey-Hailey Disease (Familial Benign Chronic Pemphigus)

A

Hailey-Hailey Disease (Familial Benign Chronic Pemphigus) - AD - ATP2C1 (golgi-associated Ca2+ ATPase, interferes with intracellular calcium signaling) - Flaccid blisters and erosions in intertriginous areas with vegetating plaques

60
Q

Haim-Munk Syndrome

A

Haim-Munk Syndrome - AR - Cathepsin C - Erythematous PPK, onychogryphosis, periodontitis, early loss of teeth, acro-osteolysis

61
Q

Harlequin Fetus

A

Harlequin Fetus - AR - ABCA12 - Restrictive plate-like scales, eclabion, death due to respiratory difficulty and/or sepsis

62
Q

Hartnup Disease

A

Hartnup Disease - AR - SLC6A19 (defective intestinal/renal neutral amino acid transport) - Pellagra-like dermatosis with photosensitivity, ataxia, tremors

63
Q

Hereditary Angioedema

A

Hereditary Angioedema - AD - SERPING1 (gene for C1-INH, serine protease inhibitor) - Episodes of nonpitting swelling (angioedema), ± abdominal pain, diarrhea, paroxysmal colicky pain

64
Q

Hereditary Congenital Lymphedema (Nonne-Milroy)

A

Hereditary Congenital Lymphedema (Nonne-Milroy) - AD - VEGFR3 (FLT4) - Congenital lymphedema, chylous ascites, bilateral pleural effusions

65
Q

Hereditary Hemorrhagic Telangiectasia (Osler-Weber- Rendu)

A

Hereditary Hemorrhagic Telangiectasia (Osler-Weber- Rendu) - AD - ENG (endoglin) & ACVRL1 (ALK1) - Pulmonary and hepatic AVMs, recurrent epistaxis, visceral hemorrhages (especially GI), telangiectasias

66
Q

Hermansky-Pudlak syndrome (HPS)

A

Hermansky-Pudlak syndrome (HPS) - AR - HPS (lysosomal transport protein) - Oculocutaneous albinism, no dense bodies in platelets, incr bleeding, granulomatous colitis, pulmonary fibrosis

67
Q

Hidrotic Ectodermal Dysplasia (Clouston Syndrome)

A

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

68
Q

Holocarboxylase Synthetase Deficiency

A

Holocarboxylase Synthetase Deficiency - - HLCS (holocarboxylase synthetase) - Alopecia, perioral and perianal scaly dermatitis, lethargy, difficulty feeding

69
Q

Homocystinuria

A

Homocystinuria - AR - CBS (cystathione _-synthetase) - Marfanoid habitus, downward displaced lens (ectopia lentis), thromboembolic events, neurologic features

70
Q

Howel-Evans Syndrome (Tylosis-Esophageal Carcinoma)

A

Howel-Evans Syndrome (Tylosis-Esophageal Carcinoma) - AD - TOC (envoplakin) - Focal PPK over pressure areas (balls of feet > hands), oral leukokeratosis, incr esophageal carcinoma

71
Q

Hunter Syndrome

A

Hunter Syndrome - XLR - Iduronate-2-sulfatase - Ivory-colored papules between scapula, cardiac involvment, joint stiffness, mental retardation

72
Q

Hurler Syndrome

A

Hurler Syndrome - AR - _-L-iduronidase - No skin findings

73
Q

Hyper-IgE Syndrome (Job Syndrome)

A

Hyper-IgE Syndrome (Job Syndrome) - AD (mainly) - STAT3 - Recurrent ‘cold’ staph infections, eczema, retained primary teeth, incr eosinophils, incr IgE

74
Q

Hypohidrotic Ectodermal Dysplasia (HED) (Anhidrotic Ectodermal Dysplasia) (Christ-Siemens-Touraine)

A

Hypohidrotic Ectodermal Dysplasia (HED) (Anhidrotic Ectodermal Dysplasia) (Christ-Siemens-Touraine) - Various Inheriatance (see right) - XLR EDA (ectodysplasin A) - AD EDAR (EDA receptor) - AR NF-_B critical role - Hypotrichosis, decr++ sweating with heat intolerance, periorbital hyperpigmentation, peg-shaped teeth, anodontia, normal nails, saddle facies with large lips

75
Q

Hypohidrotic ED with Immunodeficiency (HED-ID)

A

Hypohidrotic ED with Immunodeficiency (HED-ID) - XLR - NEMO (encodes protein nuclear factor NF-_B essential modulator) - Hypohidrotic ED, immune system abnormalities

76
Q

Ichthyosis Bullosa of Siemens

A

Ichthyosis Bullosa of Siemens - AD - K2E (keratin 2e) - Hyperkeratotic ridged plaques in flexural areas; tonofilament clumping (upper spinous/granular layers: EM)

77
Q

Ichthyosis, Lamellar (LI)

A

Ichthyosis, Lamellar (LI) - AR - TGM1 (transglutaminase 1) - Collodion membrane, plate-like scales, eclabium, ectropion (± incomplete lid closure with subsequent keratitis)

78
Q

Ichthyosis, X-linked (XLI) (Steroid Sulfatase Deficiency)

A

Ichthyosis, X-linked (XLI) (Steroid Sulfatase Deficiency) - XLR - STS (steroid sulfatase) - Corneal opacities, cryptorchidism, testicular cancer, polygonal brown scales (invariably on the neck)

79
Q

Icthyosis, Vulgaris

A

Icthyosis, Vulgaris - AD - FLG (filaggrin) - Dry skin with scaling (extensor extremities mainly)

80
Q

Incontinentia Pigmenti (Bloch-Sulzberger Syndrome)

A

Incontinentia Pigmenti (Bloch-Sulzberger Syndrome) - XLD - NEMO (nuclear factor NF-_B essential modulator) - Peg-shaped teeth, eye abnormalities, alopecia, four stages (vesicular, verrucous, hyperpigmented, hypopigmented)

81
Q

Kindler Syndrome

A

Kindler Syndrome - AR, AD - KIND1 (kindlin-1) - Congenital blistering and photosensitivity, poikiloderma with cutaneous atrophy, PPK

82
Q

KID Syndrome (Keratitis-Ichthyosis-Deafness Syndrome)

A

KID Syndrome (Keratitis-Ichthyosis-Deafness Syndrome) - AD mainly sporadic - GJB2 (connexin 26) - Vascularizing keratitis, night blindness, PPK, photophobia, deafness, ichthyosis, symmetric hyperkeratotic ridged plaques (knees, elbows, face)

83
Q

Leiomyomatosis (Reed Syndrome)

A

Leiomyomatosis (Reed Syndrome) - AD - FH (fumarate hydratase) - Cutaneous and uterine leiomyomas, renal cysts, renal cell cancer

84
Q

LEOPARD Syndrome

A

LEOPARD Syndrome - AD - PTPN11 (protein tyrosine phosphatase non-receptor type 11) - Lentigines, ECG defects, ocular hypertelorism, pulmonic stenosis, abnormal genitalia, retarded growth, deafness

85
Q

Lesch-Nyhan Syndrome

A

Lesch-Nyhan Syndrome - XLR - HGPRT (hypoxanthine-guanine phosphoribosyltransferase) - Hyperuricemia, self-mutilation, neurologic dysfunction, gout-like arthritis

86
Q

Lhermitte-Duclos Syndrome (Dysplastic Gangliocytoma of the Cerebellum)

A

Lhermitte-Duclos Syndrome (Dysplastic Gangliocytoma of the Cerebellum) - AD (if with Cowden) - PTEN (tumor suppressor gene) - Slowly enlarging mass within cerebellar cortex, cerebellar signs, incr intracranial pressure, often associated with Cowden syndrome

87
Q

Li-Fraumeni Syndrome

A

Li-Fraumeni Syndrome - AD - P53 (tumor suppressor gene) - incr Breast CA, incr brain tumors, incr osteosarcoma, incr leukemia (skin cancer not typical feature)

88
Q

Lipoid Proteinosis (Urbach-Wiethe Disease)

A

Lipoid Proteinosis (Urbach-Wiethe Disease) - AR - ECM1 (extracellular matrix protein 1) - Waxy yellow papules on face, thick tongue, hoarse cry, hippocampal calcifications, alopecia, row of beaded papules along eyelid margin (string of pearls)

89
Q

Lymphedema-Distichiasis Syndrome

A

Lymphedema-Distichiasis Syndrome - AD - FOXC2 (forkhead box protein C2: transcription factor) - Lower-limb lymphedema starting in late childhood, distichiasis (eyelash abnormality ranging from set of extra eyelashes to a single hair)

90
Q

Maffucci Syndrome

A

Maffucci Syndrome - Sporadic - Maybe PTHR1 (parathyroid hormone receptor type 1) - Venous malformations of distal extremities, endochrondromas, chondrosarcomas

91
Q

Mal de Meleda

A

Mal de Meleda - AR - SLURP1 (encodes protein: secreted Ly-6/uPar related protein) - Transgriedent PPK (hands, feet, elbows, knees), hyperhidrosis with malodor and secondary infections, perioral erythema

92
Q

McCune-Albright Sydrome (Polyostotic Fibrodysplasia)

A

McCune-Albright Sydrome (Polyostotic Fibrodysplasia) - Sporadic - GNAS1 (_ subunit of stimulatory G protein, Gs, of adenylate cyclase) - Precocious puberty, endocrine hyperfunction, large café-au-lait pigmentation (‘coast of Maine’), fibrous dysplasia of bones (may lead to pathological fractures)

93
Q

MEN 1 (Wermer Syndrome)

A

MEN 1 (Wermer Syndrome) - AD - MEN1 (menin: tumor suppressor gene) - Tumors (parathyroid, pituitary, pancreatic), collagenomas, lipomas, multiple angiofibromas (occurs later than in tuberous sclerosis)

94
Q

MEN 2a (Sipple syndrome)

A

MEN 2a (Sipple syndrome) - AD - RET (renin proto-oncogene: tyrosine kinase receptor) - Macular amyloidosis, hyperparathyroidism, medullary thyroid carcinoma, pheochromocytoma

95
Q

MEN 2b

A

MEN 2b - AD - RET (renin proto-oncogene: tyrosine kinase receptor) - Mucosal neuromas with thickened lips, marfanoid habitus, medullary thyroid carcinoma, pheochromocytoma, GI problems (i.e. diverticulosis)

96
Q

Menkes Disease (Menkes Kinky Hair Disease)

A

Menkes Disease (Menkes Kinky Hair Disease) - XLR - MNK (also known as ATP7a, copper transporting ATPase) - Doughy skin, sparse short hair, pili torti, seizures, growth failure, hypotonia, mental retardation

97
Q

MIDAS Syndrome

A

MIDAS Syndrome - XLD - HCCS (Holocytochrome c-type synthase) - Microphthalmia, dermal aplasia, sclerocornea, ± cardiac arrhythmias

98
Q

Monilethrix (Beaded Hair)

A

Monilethrix (Beaded Hair) - AD - K86, K81 (human hair keratin: hHb6 and hHb1) - Normal hair at birth _ fragile, brittle short hair first few months later, keratosis pilaris, monilethrix (hair fibers with elliptical nodes alternating with abnormal constrictions)

99
Q

Muckle-Wells Syndrome (Urticara-Deafness-Amyloidosis)

A

Muckle-Wells Syndrome (Urticara-Deafness-Amyloidosis) - AD - CIAS1 (cryopryin) - Episodic fevers, lancinating limb pain, urticaria-like eruption, progressive deafness, ± amyloidosis (AA)

100
Q

Muir-Torre Syndrome

A

Muir-Torre Syndrome - AD - MSH2, MLH1, MSH6 (DNA mismatch repair genes) - Sebaceous adenomas and carcinomas, keratoacanthomas, colon cancer

101
Q

Nail-Patella Syndrome (Hereditary Osteo-Onychodysplasia) (HOOD)

A

Nail-Patella Syndrome (Hereditary Osteo-Onychodysplasia) (HOOD) - AD - LMX1B (transcription factor that regulates collagen synthesis) - Triangular lunulae, hypoplastic nails, absent patella, scapular thickening, Lester iris, radial head abnormalities, iliac crest exostoses

102
Q

Naxos Disease

A

Naxos Disease - AR - Plakoglobin (cell adhesion protein) - Woolly hair, diffuse PPK, right ventricular cardiomyopathy and arrhythmia

103
Q

Neimann-Pick Disease

A

Neimann-Pick Disease - AR - SMPD1 (sphingomyelinase) - Hepatosplenomegaly, thrombocytopenia, ataxia, dysarthria, dystonia, seizures

104
Q

Netherton Syndrome

A

Netherton Syndrome - AR - SPINK5 (LEKTI: serine protease) - Ichthyosiform linearis circumflexa, atopic dermatitis, trichorrhexis invaginata

105
Q

Neurofibromatosis I (Von Recklinghausen Disease)

A

Neurofibromatosis I (Von Recklinghausen Disease) - AD - NF1 (neurofibromin: tumor suppressor gene) - Lisch nodules, neurofibromas, café-au-lait macules, axillary/inguinal freckling, ± learning disabilities, incr tumors (i.e. optic gliomas, malignant peripheral nerve sheath tumors, CNS tumors, juvenile myelomonocytic leukemia)

106
Q

Neurofibromatosis II

A

Neurofibromatosis II - AD - NF2 (schwannomin, also known as merlin) - CALMs, noncancerous tumors of nervous system (acoustic neuromas, meningiomas, spinal tumors)

107
Q

Noonan Syndrome

A

Noonan Syndrome - AD - PTPN11 (protein tyrosine phosphatase SHP-2), KRAS, RAF1, SOS1 - Lymphedema, keloids, edema over hands/feet, poor tongue control, low-set ears, hypertelorism, low set hairline at nape of neck, webbed neck, short stature

108
Q

Occipital Horn Syndrome [(X-linked Cutis Laxa) formerly known as EDS variant]

A

Occipital Horn Syndrome [(X-linked Cutis Laxa) formerly known as EDS variant] - XLR - ATP7A (copper transporting ATPase) - Skin and joint laxity, pili torti, vascular tortuosity, occipital horns (bilateral occipital exostoses of the skull)

109
Q

Pachyonchia Congenita, Type I (Jadassohn-Lewandowsky)

A

Pachyonchia Congenita, Type I (Jadassohn-Lewandowsky) - AD - K6, K16 (Type 1) - Focal PPK, benign oral leukokeratosis, nail dystrophy (significant subungual hyperkeratosis)

110
Q

Pachyonchia Congenita, Type II (Jackson-Lawler)

A

Pachyonchia Congenita, Type II (Jackson-Lawler) - AD - K6b, K17 (Type 2) - Nail dystrophy, steatocystomas, eruptive vellus hair cysts, natal teeth, pili torti

111
Q

PAPA Syndrome

A

PAPA Syndrome - AD - CD2BP1 (CD2 binding protein 1) - Pyogenic arthritis, pyoderma gangrenosum, acne

112
Q

Papillon-Lefèvre Syndrome

A

Papillon-Lefèvre Syndrome - AR - CTSC (cathepsin C) - Stocking glove PPK, periodontitis, premature tooth loss, dural calcifications

113
Q

Peutz-Jeghers Syndrome

A

Peutz-Jeghers Syndrome - AD - STK11 (known as LKB1, serine/threonine kinase 11) - Perioral, intraoral and acral lentigines, GI polyps (mainly hamartomatous, not premalignant)

114
Q

Phenylketonuria

A

Phenylketonuria - AR - PAH (phenylalanine hydroxylase) - Pigmentary dilution (blonde, blue eyes), eczematous dermatitis, seizures, mental retardation, mousy odor

115
Q

PIBIDS

A

PIBIDS - AR - ERCC2/XPD (nucleotide excision repair) - Photosensitivity, ichthyosis, brittle hair, infertility, developmental delay, short stature

116
Q

Piebaldism

A

Piebaldism - AD - KIT (proto-oncogene) (defect in migration/differentiation of melanoblasts from neural crest) - Poliosis (_ or absence of melanin in scalp hair or eyelashes) often with white forelock, focal areas of leukoderma

117
Q

Porphyria Cutanea Tarda (Familial Porphyria Cutanea Tarda)

A

Porphyria Cutanea Tarda (Familial Porphyria Cutanea Tarda) - AD - UROD (uroporphyrinogen decarboxylase) - Cutaneous fragility of sun-exposed sites (bullae, erosions, milia, atrophic scars), temporal/malar hypertrichosis, indurated plaques on chest/back

118
Q

Porphyria, Congenital Erythropoietic (Gunther)

A

Porphyria, Congenital Erythropoietic (Gunther) - AR - UROS (uroporphyrinogen III cosynthase) - PCT cutaneous findings (often more severe), hemolysis, erythrodontia, infections, hematologic complications

119
Q

Porphyria, Hereditary Coproporphyria

A

Porphyria, Hereditary Coproporphyria - AD - CPO (coproporphyrinogen oxidase) - Dark urine, photosensitivity, PCT cutaneous findings, episodic attacks of abdominal pain, ± CNS changes

120
Q

Porphyria, Variegate

A

Porphyria, Variegate - AD - PPO (protoporphyrinogen oxidase) - PCT cutaneous findings, neuropsychiatric symptoms

121
Q

Porphyria, Acute Intermittent

A

Porphyria, Acute Intermittent - AD - PBD (porphobilinogen deaminase) - No skin manifestation

122
Q

Porphyria, Erythropoietic Protoporphyria

A

Porphyria, Erythropoietic Protoporphyria - AD - Ferrochelatase - Photosensitivity with stinging, wax-like scarring, cholestasis, ± liver damage,

123
Q

Progeria (Hutchinson-Gilford syndrome)

A

Progeria (Hutchinson-Gilford syndrome) - - LMNA (nuclear lamins A and C) - Premature aging, prominent scalp veins, beaked nose, scleroderma-like skin, short stature, alopecia, atherosclerosis, premature death

124
Q

Pseudoxanthoma Elasticum

A

Pseudoxanthoma Elasticum - AR - ABCC6 (ABC cassette transporter MRP6) - Small yellow papules, cutaneous laxity (neck, axilla, groin), angioid streaks, calcification of elastic fibers (claudication, myocardial infarction)

125
Q

Refsum Syndrome

A

Refsum Syndrome - AR - PHYH (PAHX) or PEX7 (_ peroxisomal enzyme: phytanoyl CoA hydroxylase) - Retinitis pigmentosa, deafness, peripheral neuropathy, mild ichthyosis, cerebellar ataxia

126
Q

Richner-Hanhart Syndrome

A

Richner-Hanhart Syndrome - AR - TAT (hepatic tyrosine aminotransferase) - Pseudoherpetic keratitis, painful focal PPK

127
Q

Rombo Syndrome

A

Rombo Syndrome - AD - Unknown - Atrophoderma vermiculatum, BCCs, hypotrichosis

128
Q

Rothmund-Thomson Syndrome (Poikiloderma Congenitale)

A

Rothmund-Thomson Syndrome (Poikiloderma Congenitale) - AR - RECQL4 (DNA helicase) - Photosensitivity, absent radii, hypoplastic thumbs, premalignant acral keratoses, cataracts, alopecia, nail dystrophy, incr osteosarcoma and SCC

129
Q

Rubenstein-Taybi Syndrome

A

Rubenstein-Taybi Syndrome - Sporadic mainly - CBP (CREB binding protein) - Heart defects, beaked nose, broad thumbs, capillary malformations, multiple pilomatricomas, keloids, short stature, mental retardation

130
Q

Sjögren-Larsson Syndrome

A

Sjögren-Larsson Syndrome - AR - FALDH (fatty aldehyde dehydrogenase, aka ALDH3A2) - Ichthyosis, persistent pruritus, mental retardation, epilepsy, spastic di- or tetraplega, glistening white perifoveal dots in ocular fundus

131
Q

Trichorhinophalangeal Syndrome

A

Trichorhinophalangeal Syndrome - Sporadic or AD - TRPS-1 - Bullous pear-shaped nose, shortened phalanges, brachydactyly, cone-shaped epiphyses

132
Q

Tuberous Sclerosis

A

Tuberous Sclerosis - AD - TSC1 (hamartin gene) & TSC2 (tuberin gene) - Facial angiofibromas, ash-leaf macules, seizures, shagreen patch, periungual and gingival fibromas, dental enamel pits, neuropsychiatric defects

133
Q

Uncombable Syndrome (Pili Trianguli Et Canaliculi)

A

Uncombable Syndrome (Pili Trianguli Et Canaliculi) - Sporadic or AD - Unknown - Stiff hair with ‘spun glass’ appearance and difficult to comb, triangular shaped shaft (longitudinal groove)

134
Q

Vohwinkel, Classic (Mutilating PPK)

A

Vohwinkel, Classic (Mutilating PPK) - AD - GJB2 (connexin 26) - Ichthyosis, deafness, starfish-shaped keratotic plaques, pseudoainhum, honeycomb PPK

135
Q

Vohwinkel, Variant

A

Vohwinkel, Variant - AD - Loricrin - Ichthyotic variant, no deafness

136
Q

Waardenburg Syndrome

A

Waardenburg Syndrome - AD - PAX3 (transcription factor) & MITF, SOX10 - Dystopia canthorum, white forelock, heterochromia of the eyes, deafness, synophrys

137
Q

Werner Syndrome (Adult Progeria)

A

Werner Syndrome (Adult Progeria) - AR - WRN (also known as RECQL2: DNA helicase) - Sclerodermoid changes, ulcerations over bony prominences, incr CA, premature aging (cataracts, diabetes mellitus, atherosclerosis, osteoporosis in 20s)

138
Q

Wiskott-Aldrich Syndrome

A

Wiskott-Aldrich Syndrome - XLR - WASP - Eczema, thrombocytopenia, immune deficiency, incr pyogenic infections

Medical Derm Revision (51 decks)

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