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