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Familial leiomyomatosis

Orpha number ORPHA523
Synonym(s) Familial leiomyomatosis with renal carcinoma
Familial leiomyomatosis with renal cell cancer
Familial multiple cutaneous leiomyomas
Hereditary leiomyomatosis
Hereditary leiomyomatosis with renal carcinoma
Hereditary leiomyomatosis with renal cell cancer
Hereditary multiple cutaneous leiomyomas
Multiple cutaneous and uterine leiomyomas
Prevalence Unknown
  • Autosomal dominant
Age of onset Adolescence / Young adulthood
  • D23
MeSH -
MedDRA -


Familial leiomyomatosis is defined as the occurrence of multiple cutaneous leiomyomas within several members of a family. This rare syndrome may be associated with tumours of other organs. Leiomyomas are benign soft-tissue neoplasms that arise from smooth muscle. The preferred site of skin lesions seems to be the upper arm, but lower extremities, trunk and face may be affected as well. The individual lesion appears as a pea-sized, dermal, skin-coloured nodule, which may be painful on touch and squeezing. The tumours gradually increase in number over decades. The most common associated features of visceral organs are the development of uterine leiomyomas and renal cell carcinoma. The disease is most commonly transmitted as an autosomal dominant trait. The gene responsible is HLRCC (hereditary leiomyomas and renal cell cancer) mapped on 1q42.3-43. It encodes for mitochondrial enzyme: fumarate hydratase. Surgical excision or ablation of cutaneous leiomyomas may be helpful. Regular urologic and gynaecologic examinations are recommended.

Expert reviewer(s)

  • Dr Josef SMOLLE

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Detailed information

Clinical genetics review
  • EN (2010)
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