Cutaneous leiomyomatosis with type 2 segmental involvement.
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.
Tsoitis
G
G
Department of Dermatology, Ed. Herriot Hospital, 69437 Lyon cx 03, France.
Kanitakis
J
J
Papadimitriou
C
C
Hatzibougias
Y
Y
Asvesti
K
K
Happle
R
R
D000328:Adult; D003937:Diagnosis, Differential; D006801:Humans; D018231:Leiomyomatosis / Q000175:diagnosis* / Q000235:genetics / Q000473:pathology; D019656:Loss of Heterozygosity; D008297:Male; D012878:Skin Neoplasms / Q000175:diagnosis* / Q000235:genetics / Q000473:pathology