Cutaneous Leiomyomatosis in a Mother and Daughter

• Autor(es): Lencastre, A ; Cabete, J ; Gonçalves, R ; João, A ; Fidalgo, A
• Data: 2013
• Identificador Persistente: http://hdl.handle.net/10400.17/1805
• Origem: Repositório do Centro Hospitalar de Lisboa Central, EPE
• Assunto(s): HSAC DER; Biópsia; Carcinoma de Células Renais; Neoplasias do Útero; Fumarato Hidratase; Predisposição Genética para a Doença; Neoplasias Renais; Leiomiomatose; Pele; Neoplasias da Pele; HDE GEN
• Tipo de Documento: Artigo
• Idioma: Inglês

Descrição

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.