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44 Cards in this Set
- Front
- Back
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What are the two Autosomal Recessive types of Ehlers Danlos? |
DONKEY KONG! Dermatospraxis Kyphoscoliosis |
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What are the types of EDS that have mutations in steps in intracellular collagen synthesis? |
Vascular Kyphoscoliosis |
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Mutation in Classic EDS? |
Collagen V Type I and II are classic EDS Classic = Cinco = Five |
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What is the protein defect in Vascular EDS? |
Collagen III |
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What is the defect in Hypermobile EDS? |
Tenascin-X X makes you Xtra mobile! |
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Mutation in Kyphoscoliosis EDS? |
PLOD (Lysyl hydroxylase) PLOD forward --> scoliosis makes you lean forward |
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Mutation in Arthrochalasia EDS? |
Collagen I Artho = bone |
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Mutation in Dermatospraxis EDS? |
ADAMTS2 (procollagen N peptidase) |
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Clinical features common to all types of EDS? |
hyperextensible skin joint hypermobility easy bruising |
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What genoderm is this associated with? |
Classic EDS
Molluscoid pseudotumors- common on easily traumatized areas such as the forearm, knees and elbows. Hard, subcutaneous nodules that become calcified. |
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DDX of EPS? |
RAP MOPED Rothmund Thompson Acrogyria PXE Marfans OI Penicillamine EDS Downs |
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Vascular EDS is a mutation in... What do we educate our patients on? |
Collagen III Arterial rupture (aorta MC) Uterine rupture (delivery risk) Intestinal rupture |
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Frequent dislocations/joint laxity are a feature of... |
Hypermobile EDS Tenascin X deficiency Xtra mobile |
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Blue Sclera DDX? |
MEN MOP Marfan EDS (esp kyphoscoliosis, dermatospraxis) Nevus of Ota Minocycline OI PXE |
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Globe rupture is associated with which type of EDS?
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Kyphoscoliosis --> PLOD gene (plod your eyes out/plod forward) |
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Congenital hip dislocation is associated with which type of EDS? |
Arthrochalsia |
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Mutation in Fibrillin? |
Marfan syndrome AD |
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Tall stature, pectus excavatum, arachnodactyly, high arched palate, aortic aneurysm, ectopia lentis, spontaneous PTX... |
Marfans |
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MCC death in Marfans? |
Aortic Aneurysm |
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Mutation? |
TRICK QUESTION! Depends on mode of inheritance: CUTIS LAXA AD: elastin AR: fibulin 5 XLR: ATP7A |
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Internal problems with cutis laxa? |
Aneurysms Emphysema Diaphragmatic hernia Diverticula (GI/GU) |
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XLR Cutis Laxa is also known as... mutation... |
Occipital Horn Syndrome ATP7A (allelic to Menkes Kinky Hair) |
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ATP7A is mutated in... |
XLR Cutis Laxa Menkes Kinky Hair Encodes lysyl oxidase (Cu dependent) |
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Congenital syndromes with lax skin? |
Michelin tire baby syndrome De Barsy syndrome Cutis Laxa Costello syndrome |
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ABCC6 |
Pseudoxanthoma elasticum |
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What are angioid streaks? DDX? |
Ruptures of Bruch's membrane APPLES: Acromegaly/anemia sickle cell PXE Pagets disease of the bone Lead poisoning EDS Sclerosis (Tuberous) |
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Types 1 and 2 OI are mutations in? |
BOTH IN COLLAGEN 1 I: MC II: lethal |
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Skin finding associated with Bushke-Ollendorff? |
dermatofibrosis lenticularis disseminata |
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dermatofibrosis lenticularis disseminata of Bushke Ollendorf |
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Gene defect? |
Osteopatha striata of Goltz Syndrome (focal dermal hypoplasia) POCRN |
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Mode of inheritance of Goltz/Focal Dermal Hypoplasia? |
XLD |
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Classic findings in Focal Dermal Hypoplasia |
Goltz syndrome FOCAL Female (XLD) Osteopathia Striata Coloboma Absent ectoderm Lobster Claw |
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Mutation in ECM1? |
Lipoid Proteinosis |
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Antibodies to ECM1? |
LSA |
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Lipoid proteinosis string of pearls |
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Sickle shaped calcifications in the hippocampus? |
Lipoid proteinosis |
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Brain calcifications in: Gorlins Sturge Weber Lipoid Proteinosis Papilon Lefevre Tuberous Sclerosis |
Gorlins: Falx Cerebri Sturge Weber: Tram Trak Lipoid Proteinosis: Hippocampal Papilon Lefevre: Dural Tuberous Sclerosis: Paraventricular |
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Defect in Hutchinson Gilford syndrome? |
Lamin A |
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Most common cause of death in Progeria? |
MI by age 10-15 |
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Helicase defects include...
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We Bloom and Rot in Hell Werners (RecQL2) Bloom (RecQL3) Rothmund Thompson (RecQL4) |
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Increased risk of malignancy in progeria? |
Yes, in adult progeria (Werner) |
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What is Adams Oliver syndrome? |
ACC with terminal transverse limb defects |
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Mental creases are seen in... |
PXE |
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ACC associated with... |
Trisomy 13 Methimaxole Fetal scalp electrode Setleis |
