Familial leiomyomatosis cutis et uteri.
A 45-year-old woman presented with multiple, small, asymptomatic, hyperpigmented to skin-colored, smooth, dermal papules on the right temple as well as with uterine fibroids. She has a family history of uterine fibroids and cutaneous leiomyomas. An autosomal dominant disorder of multiple cutaneous leiomyomas and uterine fibroids (Reed syndrome) has been localized to a gene on chromosome 1q42.3-43. This gene encodes fumarate hydratase, which is an enzyme in the Kreb cycle, that acts as a tumor suppressor in this familial disorder. A subset of people may be at risk for papillary renal cell carcinoma.
Cassetty
Christopher T
CT
Ronald O. Perelman Department of Dermatology, New York University, USA.
D005260:Female; D006801:Humans; D018231:Leiomyomatosis / Q000175:diagnosis / Q000235:genetics*; D008875:Middle Aged; D012878:Skin Neoplasms / Q000175:diagnosis / Q000235:genetics*; D014594:Uterine Neoplasms / Q000235:genetics*