[Genetic aspects of blue rubber-bleb nevus syndrome and multiple generalized glomangiomatosis].
Morphology, clinical findings and histological examination allow to recognize the solitary glomus tumor from the multiple glomus tumors and the blue rubber-bleb nevus-syndrome; however, the latter are more difficult to identify separately. They are transmitted as autosomal dominant conditions with good penetrance. With the hypothesis of a dual mutation system and that of the putative induction of paramutations the authors try to account for the variable expression of these conditions. It may be suggested that the existence of a common histological pattern, the multiple systematic, the multiple generalized tumors and the blue rubber-bleb nevus syndrome being perhaps the different expression of the same basic pathologic process.
D003937:Diagnosis, Differential; D005918:Glomus Tumor / Q000175:diagnosis / Q000235:genetics* / Q000473:pathology; D006392:Hemangioma, Cavernous / Q000175:diagnosis / Q000235:genetics* / Q000473:pathology; D006801:Humans; D012867:Skin / Q000473:pathology; D012878:Skin Neoplasms / Q000175:diagnosis / Q000235:genetics* / Q000473:pathology; D013577:Syndrome
Genetische Aspekte des Blue-rubber-bleb-Nävussyndroms und der multiplen generalisierten Glomangiomatose.