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Cutaneous Leiomyomatosis with Type 2 Segmental Involvement
Author(s) -
Tsoitis George,
Kanitakis Jean,
Papadimitriou Christos,
Hatzibougias Yannis,
Asvesti Katerina,
Happle Rudolf
Publication year - 2001
Publication title -
the journal of dermatology
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.9
H-Index - 65
eISSN - 1346-8138
pISSN - 0385-2407
DOI - 10.1111/j.1346-8138.2001.tb00127.x
Subject(s) - loss of heterozygosity , phenotype , pathology , compound heterozygosity , presentation (obstetrics) , biology , anatomy , medicine , genetics , gene , radiology , allele
A 21‐year‐old man had histologically‐confirmed diffuse cutaneous leiomyomatosis. The lesions showed a peculiar distribution in that they predominantly involved several segments of the right side of his body; in addition, less extensive, nonsegmental lesions were present on both sides of the body. Although this case was apparently sporadic, the genetic mechanism of loss of heterozygosity provides a plausible explanation for this unusual presentation. If the patient were heterozygous for the underlying mutation, at an early developmental stage a postzygotic event of loss of heterozygosity would have given rise to a type 2 segmental involvement, resulting in pronounced lesions superimposed on the disseminated tumors of the ordinary phenotype.