Muir-Torre Syndrome 727d35h 727d35h 727d35h 727d35h 727d35h 727d35h
General: Rare; autosomal dominant; characterized by sebaceous tumors and internal malignancies
Ocular: Sebaceous tumor of the eyelids
Clinical: Gastrointestinal, breast and genitourinary malignancies; sebaceous neoplasms
Font RL, Rishi K: Sebaceous gland adenoma of the tarsal conjunctiva in a patient with Muir-Torre syndrome. Ophthalmology 2003; 110: 1833-l
Mathiak M, Rutten A, Mangold E, et al. Loss of DNA mismatch repair proteins in skin tumors form patients with Muir-Torre syndrome and MSH2 or MLH1 germline mutations: establishment of immunohistochemical analysis as a screening test. Am J Surg Pathol 2002; 26: 338-3
Scheie Syndrome (Mucopolysaccharidosis IS; MPS IS; MPS V; Mucopolysaccharidosis V) General: Autosomal recessive; chondroitin sulfat [...] |
Puckering Syndrome [...] |
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