A 23-year-old Caucasian male who notes recurrent severe nosebleeds is found to have pink spider-like lesions on his oral and nasal mucosa, face, and arms. The patient most likely suffers from:

Question

A 23-year-old Caucasian male who notes recurrent severe nosebleeds is found to have pink spider-like lesions on his oral and nasal mucosa, face, and arms.  The patient most likely suffers from:

Quizplus · Accepted Answer

This patient presents with skin and mucosal telangiectasias as well as recurrent severe nosebleeds. The most likely diagnosis is Osler-Weber-Rendu syndrome (hereditary hemorrhagic telangiectasia), a condition characterized by the autosomal dominant inheritance of congenital telangiectasias to the skin and mucous membranes. The mucosal involvement may affect the lips, oronasopharynx, respiratory tract, gastrointestinal tract, or urinary tract. In rare instances, the telangiectasias of Osler-Weber-Rendu syndrome may occur in the brain, liver, and spleen as well. Rupture of these telangiectasias may cause epistaxis, gastrointestinal bleeding, and hematuria. (Choice A) Von Recklinghausen's disease, or neurofibromatosis type 1 (NF1), is an inherited peripheral nervous system tumor syndrome. Patients develop neurofibromas, optic nerve gliomas, Lisch nodules (pigmented nodules of the iris), and café au lait spots (hyperpigmented cutaneous macules). (Choice B) Neurofibromatosis type 2 is an autosomal dominant nervous system tumor syndrome, in which patients commonly develop bilateral cranial nerve VIII schwannomas and multiple meningiomas. (Choice C) Sturge-Weber syndrome (encephalotrigeminal angiomatosis) is a rare congenital neurocutaneous disorder characterized by the presence of cutaneous facial angiomas as well as leptomeningeal angiomas. This condition is associated with mental retardation, seizures, hemiplegia, and skull radiopacities. Skull radiographs may show characteristic "tram-track" calcifications. (Choice D) Von Hippel-Lindau disease is a rare, autosomal dominant condition characterized by the presence of capillary hemangioblastomas in the retina and/or cerebellum, as well as congenital cysts and/or neoplasms in the kidney, liver, and pancreas. Patients are also at increased risk for renal cell carcinoma, which can be bilateral. (Choice E) Although tuberous sclerosis (TS) may cause kidney, liver, and pancreatic cysts, central nervous system (CNS) involvement manifests not as angiomatous lesions, but as cortical and subependymal hamartomas. This autosomal dominant syndrome is also characterized by cutaneous angiofibromas (adenoma sebaceum), visceral cysts, and a variety of other hamartomas, as well as renal angiomyolipomas and cardiac rhabdomyomas. Clinically, seizures are a major complication. Educational Objective: Osler-Weber-Rendu syndrome (hereditary hemorrhagic telangiectasia) is an autosomal dominant condition marked by the presence of telangiectasias in the skin as well as the mucous membranes of the lips, oronasopharynx, respiratory tract, gastrointestinal tract, and urinary tract. Rupture of these telangiectasias may cause epistaxis, gastrointestinal bleeding, or hematuria.

A 23-Year-Old Caucasian Male Who Notes Recurrent Severe Nosebleeds Is