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.

Dermoscopic features of pilar leiomyomas

“…The dermoscopic features of pilar leiomyomas are not well defined. 1 In this present study, the presence of a delicate PN (46%) was the most common dermoscopic feature in the pilar leiomyomas, followed by linear, irregular crypts (34%), cerebriform pattern (29%), cloud-like area with branching vessels (11%), fingerprint pattern (6%), yellow-white area (6%), featureless area (2%), scar-like area (2%) and cobblestone appearance (2%). Interestingly, the presence of the PN was noticed in all of the lesions of a female patient (case 1) who had multiple leiomyomas and another male patient with a single leiomyoma (case 4), while none of the lesions in the other three patients showed any PN.…”

“…The central hypopigmented area also demonstrated a circular and/or elongated hyperpigmented structure within. Lencastre et al . reported a thin brownish‐pink PN in a solitary leiomyoma.…”

“…DEAR EDITOR, Cutaneous pilar leiomyomas are benign smooth muscle neoplasms that usually present as painful firm erythematous-to-brown-coloured papules and nodules. 1 Dermoscopy has been used as an auxiliary tool in the diagnosis of various cutaneous tumours. Herein we report the various dermoscopic features of 48 cutaneous pilar leiomyomas in five patients.…”

Nifedipina Auxiliando No Controle Da Dor Em Paciente Com Piloleiomiomas Múltiplos

“…3,6,7 Esse carcinoma geralmente segue um curso agressivo com metástase precoce, mesmo quando menor que 1 cm. 8,9 Os angioleiomiomas em geral acometem pacientes do sexo feminino entre 40-60 anos, apresentando-se como nódulos solitários, bem definidos e da cor da pele. Costumam ser profundos, menores que 4 cm e ocorrem predominantemente em membro inferior.…”

Review of hereditary leiomyomatosis renal cell carcinoma with focus on clinical and pathobiological aspects of renal tumors

“…The risk of RCC in patients with HLRCC is higher with 6.5 fold than that of general populations [21]. Renal cysts are found in 42% of FH gene mutation-positive patients [10,21,22,23,24,25].…”