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11 Cards in this Set
- Front
- Back
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Clinical Blue Rubber Bleb Nevus Syndrome
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Inheritance
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Sporadic; rare reports of autosomal dominant transmission
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Prenatal
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None listed
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Incidence
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Rare; M=F
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Age At Presentation
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Birth to early childhood
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Pathogenesis
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Unknown
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Clinical
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Skin
Multiple venous malformations soft, dark blue, compressible, 0.1 to 5.0 cm nod¬ules on trunk and extremities; with/without pain, with/without increased sweat wt' lesion; increase in size and number with age; may have combined lymphatic ve¬nous malformation Gastrointestinal Venous malformations (especially in small intestine) with secondary hemorrhage, anemia Other Viscera Case reports of venous malformations in most organ systems with associated com¬plications |
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D/Dx
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Maffucci syndrome (p. 1] 8) Diffuse neonatal hemangiornatosis (p. 124) Fabry Disease (p. 306); multiple angiokeratomas Multiple glomus tumors
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Lab
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Fundoscopy MRI to evaluate gastrointestinal lesions CBC Stool guaiacs
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Management
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Surgical excision/C02 laser of skin lesions if symptomatic or for cosmesis
Screening of gastrointestinal tract with stool guaiac test Anemia controlled with iron supplementation, tranfusions, endoscopic cauterization or bowel resection, if necessary Referral to dermatologist, gastroenterologist, surgeon |
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Prognosis
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Normal life span if bleeding controlled; venous malformations persist throughout life
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