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68 Cards in this Set
- Front
- Back
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Ehlers-Danolos Syndrome (EDS) is associated with how many types?
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11
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EDS type 1 (Gravis) is associated with an AD mutation in what collagen type?
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Collagen 5
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EDS type what is associated with Hyperextensible skin, gaping wounds, cigarette-paper scars, molluscoid pseudo tumors, calcified SQ nodules, Bruises, Hypermobile joints with dislocation, hernias, MVP, Blue sclerae, Gorlin's sign (tongue reaches nose), Absence of lingual frenulum
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EDS type 1 (Gravis)
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What is Gorlin's sign? (Gene Simmons sign)
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Tongue reaches the Nose (Gene Simmons sign)
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EDS Type 2 (Mitis)
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AD, Collagen 5 mutation
Milder form of type 1 |
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EDS Type 3 (Benign Hypermobile)
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AD, Collagen 3 mutation
Recurrent joint dislocations |
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EDS Type 4 (Vascular)
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AD/AR, Collagen 3 mutation
Translucent skin with visible venous network, arterial and venous rupture resulting in early death |
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EDS Type 5 (X-linked)
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X-recessive Lysyl Oxidase deficiency
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EDS Type 6 (Ocular-Scoliotic)
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AR mutation in PLOD gene and Lysyl Hydroxylase deficency
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What EDS type? Severe kyphoscoliosis, retinal detachment and other eye abnormalities
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EDS Type 6 (Ocular-Scoliotic)
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EDS Type 7 (Arthrochalasis Multiplex Congenita)
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AD/AR, COL1A/2, mutations in Procollagen amino terminals (AD) or in procollagen aminopeptidase (AR) which cleaves the amino terminals
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EDS type what? Congential Hip dislocation, Severe joint hypermobility
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EDS Type 7 (Arthrochalasis Multiplex Congenita)
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EDS Type 8 (Periodontitis)
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Collagen type 3 mutation
Mild symptoms of EDS with periodontitis and resulting in tooth loss |
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EDS Type 9 (Occipital Horn Syndrome)
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X-linked recessive mutation in Lysyl Oxidase
-Mild symptoms of EDS with Occipital exostoses and hernias |
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EDS Type 10 (Fibronectin)
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AR mutation in Fibronectin
Ecchymoses and Petechiae |
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EDS Type 11 (Large Joint Hypermobile)
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AD dislocation of large joints
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Osteogenesis Imperfecta gene defect?
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COL1A gene defect
Types 1 and 4 AD Types 2 and 3 AD/AR most severe with fractures in utero |
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Progeroid EDS
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AR mutation in Xylosylprotein 4-beta-galactotransferase
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What type of EDS?
Thin, elastic skin, hair and teeth abnormalities, osteopenia and hypotonia |
Progeroid EDS
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EDS with congenital adrenal hyperplasia
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AR defect in Tenascin-X
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Marfan's Syndrome is an AD mutation in?
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Fibrillin 1 and 2
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Tall stature, Arachnodactyly, Pectus Excavatum, High-arched palate, joint laxity, ectopia lentis with upward dislocation, aortic dilation with rupture, MVP, Striae, Elastosis Perforans Serpigninosa?
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Marfan's Syndrome
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Congenital Contractural Arachnodactyly is associated with AD mutation in ?
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Fibrillin 2
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Long limbs, arachnodactyly, scoliosis, crumpled ear
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Congenital Contractural Arachnodactyly
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Cutis Laxa is associated with AR mutation in what gene?
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Fibulin 4 gene
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Cutis Laxa is associated with AD mutation in what gene?
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Elastin Gene
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Cutis Laxa is associated with X-linked Recessive mutation in what gene?
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Lysyl Oxidase
(allelic to EDS 9 and Menkes) |
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Acquired Cutis Laxa is also called what?
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Marshall syndrome
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Loose, Pendulous, inelastic skin, deep voice, lung abnormalities, arterial rupture, visceral diverticular and hernias, and joint dislocation
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Cutis Laxa
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Pseudoxanthoma Elasticum is caused by a AR/AD and sporadic mutation in what gene?
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ABCC6 gene
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ABCC6 gene (Anthracycline Resistance protein, ATP-using cell transporter) mutation is associated with what?
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Pseudoxanthoma Elasticum
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Fragmented and calcified elastin of skin, eyes, and arteries. Plucked-chicken skin on flexures, yellow papules on mucous membranes, angioid streaks (rupture in Bruch's membrane), gastric hemorrhages, arterial disease
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Pseudoxanthoma Elasticum
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Dermatofibrosis Lenticularis Disseminata (Elastomas) and Osteopoikilosis (round opacities in bones) is seen in what syndrome?
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Buschke-Ollendorf Syndrome
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Buschke-Ollendorf Syndrome is caused by an AD loss-of-function mutation in what gene?
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LEMD3 (also called MAN1)
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Focal Dermal Hypoplasia (Goltz Syndrome) is an X-linked dominant (lethal in males) caused by what gene mutation?
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PORCN gene
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Linear atrophy following Blaschko's lines with areas of fat herniation, mucocutaneous papillomas and pits, alopecia, nail dystrophy, tooth abnormalities musculoskeletal defects (ostopathia striata) and colobomas
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Focal Dermal Hypoplasia (Goltz Syndrome)
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Lipoid Proteinosis is caused by an AR mutation in what gene?
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ECM1 (Extracellular Matrix Protein 1) gene
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Scars and yellow papules of the face and oropharynx, eyelid string of pearls, hoarse voice, verrucal nodules on elbows and knees, bean-shaped temporal and hippocampal calcification with seizures and PAS+ deposits histologically.
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Lipoid Proteinosis
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Progeria (Hutchinson-Gilford Syndrome) is caused by an AD mutation in what?
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Lamin A (nuclear envelope protein)
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Lipoatrophic sclerodermoid skin, alopecia, nail atrophy, craniomegaly with small face, muscle/bone wasting, severe premature atherosclerosis with early death.
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Progeria (Hutchinson-Gilford Syndrome)
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Beare-Stevenson Cutis Gyrata Syndrome is caused by mutations in what?
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Fibroblast growth factor receptor 2
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Craniosynostosis, cutis gyrata, acanthosis nigricans, anogenital anomalies, skin tags, prominent umbilical stump, furrowed palms/soles
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Beare-Stevenson Cutis Gyrata Syndrome
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Apert syndrome caused by mutations in Fibroblast growth factor receptor 2 symptoms?
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Cranial synostosis, Syndactyly, and severe acne
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Nevus Comedonicus is caused by mutation in what gene?
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Fibroblast growth factor receptor 2
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Skeletal Dysplasia syndrome with acanthosis nigricans is caused by a mutation in what gene?
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FGFR3 mutation
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Pachydermoperiostosis is AD mutation seen mostly in males with what symptoms?
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Clubbing of digits, soft tissue hyperplasia, periosteial proliferation of arms and legs, cutis vertices gyrate on scalp
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Mutations in BSCL2 gene wich encode nuclear lamins cause what disease?
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Berardinelli-Seip Congenital Lipodystrophy
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Berardinelli-Seip Congenital Lipodystrophy symptoms?
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Generalized lipodystrophy, hyperlipemia, hepatomegaly, acanthosis nigricans, elevated basal metabolic rate, and NASH
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Acquired generalized lipodystrophy (Lawrence Syndrome) Type 1 and Type 2 have what AR gene defects?
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Type 1= AGPAT gene
Type 2= BSCL2 gene |
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Familial partial lipodystrophy (Dunnigan) has 3 types what are gene defects?
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Type 1: Kobberling
Type 2: Dunnigan, AD mutation in LMNA (nuclear lamins A/C) Type 3: PPARG gene mutation |
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Familial Partial Lipodystrophy (Dunnigan) symptoms?
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Symmetric lipoatrophy of trunk and limbs (sparing neck, shoulders, buffalo hump area, genitalia), tuberoeruptive xanthomas, acanthosis nigricans, hyper TG's
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Acquired partial lipodystrophy (Barraquer Simons Syndrome) is associated with what sporadic or AD mutation?
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LMNB2 gene mutation
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Decreased fat on face, medial thighs, buttocks, increased fat on hips and legs
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Acquired partial lipodystrophy (Barraquer Simons Syndrome)
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Leprechaunism (Donohue syndrome) associated with what gene mutation?
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Insulin receptor gene
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Symptoms of Leprechaunism (Donohue syndrome) ?
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Generalized lipodystrophy and elfin faces with death in infancy
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Loeys-Dietz syndrome is caused by AD mutation in what?
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TGF-beta receptors 1 and 2
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Translucent skin, aortic aneurysm, arterial tortuosity, carniofacial and skeletal abnormalities, joint hypermobility
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Loeys-Dietz syndrome
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Unilateral absence of breast +/- pectorals major, ipsilateral syndactyly is seen in what syndrome?
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Poland Syndrome
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Joffe-Campacci syndrome symptoms?
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Disseminated non-ossifying fibromas of long bones and jaw bones, hypogonadism, cryptorchidism, MR, Giant cell granulomas of the jaw
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Familial Multiple Lipomatosis is an AD disease characterized by...
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Multiple lipomas of the upper and lower extremities
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Aplasia Cutis Congenita (ACC) is a AD/AR/sporadic disorder characterized by..
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Well-demarcated erosions at birth healing with atrophic, alopecic scars
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Adams-Oliver Syndrome
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AD, Midline scalp ACC with limb hypoplasia
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Bart's Syndrome
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AD, ACC of lower extremity with dominant dystrophic epidermolysis bullosa
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ACC can be caused by teratogens, particularly what?
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Methimazole
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Osteogensis Imperfecta is caused by what gene defect?
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COL1A1 gene defect
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Osteogensis Imperfecta types 1 and 4 are
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AD
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Osteogensis Imperfecta types 2 and 3 are
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AD/AR (Most severe with in utero fractures)
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Thin skin, blue sclera (except type 3), multiple fractures with wormian bones, MVP (especially with type 1)
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Osteogensis Imperfecta
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