title: Cutaneous leiomyomatosis in a mother and daughter.
abstract: A 34-year-old woman with no known medical history was evaluated for multiple painful brown nodules and papules on the anterior aspect of the trunk. She mentioned a history of similar cutaneous findings on her mother. Biopsies of three lesions revealed piloleiomyomata. Renal and adrenal ultrasound revealed an isolated simple cortical cyst, and pelvic and endovaginal ultrasound revealed two uterine myomata. The clinical diagnosis of hereditary leiomyomatosis and renal cell cancer was corroborated by the identification of a heterozygous variant on exon 5 of the fumarate hydratase gene (c.578C>T p.T193I). Identification of the tumor piloleiomyoma should alert the dermatologist to this rare genodermatosis, which is associated with an increased risk of renal cell tumors, demanding multidisciplinary follow-up, and personal and family counseling.
authors.affiliation: Centro Hospitalar de Lisboa Central, EPE, Hospital de Santo António dos Capuchos, Dermatology/Venereology Department, Lisbon, Portugal.
authors.forename: André
authors.initials: A
authors.lastname: Lencastre
authors.affiliation: Centro Hospitalar de Lisboa Central, EPE, Hospital de Santo António dos Capuchos, Dermatology/Venereology Department, Lisbon, Portugal.
authors.forename: Joana
authors.initials: J
authors.lastname: Cabete
authors.affiliation: Centro Hospitalar de Lisboa Central, EPE, Hospital de Dona Estefânea, Lisbon, Portugal.
authors.forename: Rui
authors.initials: R
authors.lastname: Gonçalves
authors.affiliation: Centro Hospitalar de Lisboa Central, EPE, Hospital de Santo António dos Capuchos, Lisbon, Portugal.
authors.forename: Alexandre
authors.initials: A
authors.lastname: João
authors.affiliation: Centro Hospitalar de Lisboa Central, EPE, Hospital de Santo António dos Capuchos, Lisbon, Portugal.
authors.forename: Ana
authors.initials: A
authors.lastname: Fidalgo
mesh_terms: D000328:Adult; D001706:Biopsy; D002292:Carcinoma, Renal Cell / Q000235:genetics / Q000473:pathology*; D005260:Female; D005649:Fumarate Hydratase / Q000235:genetics; D020022:Genetic Predisposition to Disease; D006801:Humans; D007680:Kidney Neoplasms / Q000235:genetics / Q000473:pathology*; D018231:Leiomyomatosis / Q000235:genetics / Q000473:pathology*; D008875:Middle Aged; D009386:Neoplastic Syndromes, Hereditary; D012867:Skin / Q000473:pathology*; D012878:Skin Neoplasms / Q000235:genetics / Q000473:pathology*; D014594:Uterine Neoplasms / Q000235:genetics / Q000473:pathology*
chemical_list: D005649:Fumarate Hydratase