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Leiomyoma
Evidence Levels: A Double-blind study B Clinical trial ≥ 20 subjects C Clinical trial < 20 subjects D Series ≥ 5 subjects E Anecdotal case reports
Cutaneous leiomyomas are rare, benign neoplasms originating from smooth muscle. Three types exist: (1) piloleiomyoma, the most common type, arising from the arrectores pilorum muscle; (2) dartoic myoma, or genital leiomyoma, arising from the scrotal/labial dartos muscle or smooth muscle of the nipple; and (3) angioleiomyoma, arising from the vascular wall muscle. Piloleiomyomas frequently occur as multiple lesions (80%). Multiple leiomyomas can be inherited in an autosomal dominant fashion in association with uterine leiomyoma (Reed syndrome, m ultiple c utaneous and u terine l eiomyomata [MCUL1; OMIM 150800]). Familial multiple leiomyomata can rarely be associated with renal cell cancer ( h ereditary l eiomyomatosis and r enal c ell c ancer [HLRCC; OMIM 105800]). Both familial forms are caused by mutations in the fumarate hydratase gene (coding for an enzyme in the tricarboxylic acid cycle) on 1q42.1, which is hypothesized to act as a tumor suppressor gene through an unknown mechanism. Cutaneous leiomyomas present as flesh-colored or brownish-red dermal papules or nodules up to 2 cm in diameter, typically distributed on the trunk and extensor surfaces of extremities. They often appear from the second to fourth decade and gradually increase in number and size. Paroxysmal pain, described as stabbing, burning, or pinching, may be triggered by cold or mechanical stimulation and is possibly due to muscle contraction or compression of entrapped nerves. Angioleiomyomas are less frequently symptomatic, whereas genital leiomyomas are asymptomatic.
Management Strategy
Symptomatic solitary lesions are best excised. Symptomatic multiple leiomyomas are therapeutically challenging because they involve a large area and recur after excision in 50% of cases. Selective excision of larger painful lesions may be considered, provided patients are warned of the relatively high chance of recurrence. CO 2 laser ablation of symptomatic lesions may be successful. Other therapeutic methods aim to inhibit smooth muscle contraction, and thus pain, by interfering with local tissue mediators (e.g., norepinephrine, epinephrine, and acetylcholine). There are reports of success with oral doxazosin (a selective α 1 -blocker) 1–4 mg daily, oral nifedipine (calcium channel blocker) 10 mg three times daily, amlodipine (calcium channel blocker) 5 mg twice daily, phenoxybenzamine (non-selective α-blocker) 10 mg twice daily, topical 9% hyoscine hydrobromide (anticholinergic), and oral glyceryl trinitrate (nitroglycerin) 0.8–1.6 mg as needed. Analgesics that target neuropathic pain (e.g., oral gabapentin 300 mg three times daily and duloxetine ) have been beneficial. Potential triggers should be avoided. Intralesional injection of botulinum toxin A (5 units per cm 2 ), cryotherapy, and lidocaine patches have shown some benefit.
Women, particularly those with a family history, should undergo gynecologic review to exclude possible uterine involvement (‘fibroids’). Menorrhagia may necessitate hysterectomy, and leiomyosarcoma, although rare, should be excluded. Potential familial forms require referral to a clinical geneticist with informed consent for mutational analysis of the fumarate hydratase gene. Individuals considered to have HLRCC will require renal ultrasound surveillance to detect the development of renal tumors.
Specific Investigations
Cutaneous smooth muscle neoplasms: clinical features, histologic findings and treatment options
Holst VA, Junkins-Hopkins JM, Elenitas R. J Am Acad Dermatol 2002; 46: 477–90.
A well-referenced review covering leiomyoma and angioleiomyoma. On histologic examination, leiomyomas stained with Masson trichrome reveal brick-red smooth muscle fibers. Immunohistochemical techniques demonstrating desmin, smooth muscle actin, or muscle-specific actin confirm tumor origin.
Germline mutations in FH predispose to dominantly inherited uterine fibroids, skin leiomyomata and papillary renal cell cancer
Tomlinson IP, Alam NA, Rowan AJ, et al. Multiple Leiomyoma Consortium. Nature Genet 2002; 30: 406–10.
The authors demonstrate that the gene predisposing to uterine fibroids, cutaneous leiomyoma, and renal cell carcinoma encodes fumarate hydratase.
Hereditary leiomyomatosis and renal cell cancer syndrome: an update and review
Patel VM, Handler MZ, Schwartz RA, et al. J Am Acad Dermatol 2017; 77: 149–58.
An overview of HLRCC and the sensitivity of immunohistochemistry markers, including 2SC in confirming the diagnosis.
Leiomyomas of the skin
Fisher WC, Helwig EB. Arch Dermatol 1963; 88: 510–20.
The clinical findings and natural course of 54 cutaneous leiomyomas from 38 patients are described. Surgically excised leiomyomas had a high recurrence rate of 50%.
Second-Line Therapies
The rarity of the condition means that most publications on therapy are case reports. The therapeutic agents are not consistently effective.
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