title: Piloleiomyomas in multiple cutaneous and uterine leiomyoma syndrome (hereditary leiomyomatosis and renal cell cancer or Reed syndrome).
abstract: Multiple cutaneous and uterine leiomyoma (MCL), or Reed syndrome is an uncommon condition that includes cutaneous piloleiomyomas and internal neoplasms of the uterus and kidney. Clinical findings include clusters of variably-painful, skin-colored-to-red-brown papules. Genetic testing shows germline mutations in the gene encoding fumarate hydratase. We describe a patient with MCL who presented with subtle cutaneous findings. We believe it is important that dermatologists consider a diagnosis of MCL when presented with patients with small painful dermal papules.
authors.affiliation: New York University School of Medicine.
authors.forename: Evan
authors.initials: E
authors.lastname: Rieder
authors.forename: Marianna
authors.initials: M
authors.lastname: Shvartsbeyn
authors.forename: Shane A
authors.initials: SA
authors.lastname: Meehan
mesh_terms: D000328:Adult; D004252:DNA Mutational Analysis; D004273:DNA, Neoplasm / Q000235:genetics*; D003937:Diagnosis, Differential; D005649:Fumarate Hydratase / Q000235:genetics* / Q000378:metabolism; D020022:Genetic Predisposition to Disease; D018095:Germ-Line Mutation; D006801:Humans; D018231:Leiomyomatosis / Q000175:diagnosis / Q000235:genetics* / Q000378:metabolism; D008297:Male; D009386:Neoplastic Syndromes, Hereditary; D012867:Skin / Q000473:pathology*; D012878:Skin Neoplasms / Q000175:diagnosis / Q000235:genetics* / Q000378:metabolism; D014594:Uterine Neoplasms / Q000175:diagnosis / Q000235:genetics* / Q000378:metabolism
chemical_list: D004273:DNA, Neoplasm; D005649:Fumarate Hydratase