Familial leiomyomatosis cutis et uteri
Alerts and Notices
Synopsis
Affected individuals often first present to dermatologists with cutaneous leiomyomas. The average age of onset of cutaneous lesions is 25 years, although onset in childhood or later adulthood is not uncommon. Smooth muscle fibers that make up cutaneous leiomyomas arise from arrector pili of hair follicles or vascular smooth muscle. Lesions very rarely spontaneously regress and may occasionally increase in size. Patients often report pain or paresthesias with touch or cold temperatures.
Uterine fibroids in MCUL tend to have early onset and severe symptoms compared with spontaneous fibroids. Onset is typically earlier than age 30, compared with age 40 for spontaneous fibroids. Symptoms include menorrhagia, irregular menses, pelvic pain, and sometimes infertility or subfertility. Half of women with MCUL require hysterectomy or myomectomy before age 30 due to symptom severity.
Many different FH mutations have been identified, although there is no clear association between specific mutations and development of the HLRCC variant. Families with known HLRCC have variable penetrance of papillary RCC in individuals with the familial FH mutation. RCC may present with hematuria, low back or flank pain, and abdominal or flank mass. These tumors also have an early age of onset (median onset is 44 years) compared with spontaneous RCC and are typically unilateral but may be bilateral or multifocal. RCC in these patients is aggressive, with a higher-than-expected rate of metastasis (50%) and mortality, even when lesions are small. Adrenal cortical adenomas have also been reported in some patients with HLRCC, although this association is not certain. Most are nonfunctioning, but some adrenocorticotropic hormone (ACTH)-secreting tumors have been identified.
Codes
ICD10CM:D25.9 – Leiomyoma of uterus, unspecified
Q82.8 – Other specified congenital malformations of skin
SNOMEDCT:
254767008 – Cutaneous leiomyoma
404043000 – Familial multiple leiomyoma cutis
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Diagnostic Pearls
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Differential Diagnosis & Pitfalls
- Cutaneous leiomyoma without uterine fibroids (all female patients with single or multiple cutaneous leiomyomas should be evaluated for uterine fibroids)
- Cutaneous leiomyosarcoma – May present with similar physical findings, but biopsy will show atypical cells and mitotic figures
- Herpes zoster – Consider if lesions present in a dermatomal pattern
- Lipoma
- Neurofibroma
- Dermatofibroma
- Angiolipoma
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Management Pearls
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Therapy
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References
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Last Reviewed:01/03/2022
Last Updated:01/09/2022
Last Updated:01/09/2022
Familial leiomyomatosis cutis et uteri