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 r...
Abstract Hereditary leiomyomatosis and renal cell carcinoma (HLRCC) is an autosomal dominant manifes...
Hereditary syndromes frequently need the cooperation of different specialties to increase diagnostic...
A 51-year-old Caucasian female presenting with renal-cell cancer and cutaneous leiomyomas was later ...
A 34-year-old woman with no known medical history was evaluated for multiple painful brown nodules a...
Hereditary leiomyomatosis and renal cell cancer is a rare, inherited disease caused by mutations in ...
Cutaneous leiomyomas (CLs) are uncommon benign smooth muscle tumours characterised by solitary or mu...
Hereditary leiomyomatosis and renal cell cancer (HLRCC) is a rare autosomal dominant condition, whic...
Background: The multiple cutaneous and uterine leiomyomatosis syndrome (MCUL) is a rare autosomal do...
Heterozygous fumarate hydratase (FH) germline mutations cause hereditary leiomyomatosis and renal ce...
In 2001, Finish investigators described a rare familiar syndrome characterized by an inherited susce...
Hereditary leiomyomatosis and renal cell cancer (HLRCC) is an autosomal dominant disorder characteri...
Germline mutations in the fumarate hydratase gene (FH) predispose to multiple cutaneous and uterine ...
9 páginas, 2 figuras, 2 tablas.Germline mutations in the fumarate hydratase gene (FH) predispose to ...
Germline mutations in the fumarate hydratase gene (FH) predispose to multiple cutaneous and uterine ...
Multiple cutaneous and uterine leiomyoma (MCL), or Reed syndrome is an uncommon condition that inclu...
Abstract Hereditary leiomyomatosis and renal cell carcinoma (HLRCC) is an autosomal dominant manifes...
Hereditary syndromes frequently need the cooperation of different specialties to increase diagnostic...
A 51-year-old Caucasian female presenting with renal-cell cancer and cutaneous leiomyomas was later ...
A 34-year-old woman with no known medical history was evaluated for multiple painful brown nodules a...
Hereditary leiomyomatosis and renal cell cancer is a rare, inherited disease caused by mutations in ...
Cutaneous leiomyomas (CLs) are uncommon benign smooth muscle tumours characterised by solitary or mu...
Hereditary leiomyomatosis and renal cell cancer (HLRCC) is a rare autosomal dominant condition, whic...
Background: The multiple cutaneous and uterine leiomyomatosis syndrome (MCUL) is a rare autosomal do...
Heterozygous fumarate hydratase (FH) germline mutations cause hereditary leiomyomatosis and renal ce...
In 2001, Finish investigators described a rare familiar syndrome characterized by an inherited susce...
Hereditary leiomyomatosis and renal cell cancer (HLRCC) is an autosomal dominant disorder characteri...
Germline mutations in the fumarate hydratase gene (FH) predispose to multiple cutaneous and uterine ...
9 páginas, 2 figuras, 2 tablas.Germline mutations in the fumarate hydratase gene (FH) predispose to ...
Germline mutations in the fumarate hydratase gene (FH) predispose to multiple cutaneous and uterine ...
Multiple cutaneous and uterine leiomyoma (MCL), or Reed syndrome is an uncommon condition that inclu...
Abstract Hereditary leiomyomatosis and renal cell carcinoma (HLRCC) is an autosomal dominant manifes...
Hereditary syndromes frequently need the cooperation of different specialties to increase diagnostic...
A 51-year-old Caucasian female presenting with renal-cell cancer and cutaneous leiomyomas was later ...