Familial leiomyomatosis cutis et uteri - Skin
Patients 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 30 years of age, compared with 40 years of age 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 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 ACTH-secreting tumors have been identified.
For more information, see OMIM.
Q82.8 – Other specified congenital malformations of skin
254767008 – Cutaneous leiomyoma
- 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