- Author: Kyle L Horner, MD, MS; Chief Editor: William D James, MD more...
Leiomyomas are benign soft tissue neoplasms that arise from smooth muscle. These lesions can develop wherever smooth muscle is present, but malignant transformation probably does not occur.
Signs and symptoms
The most common feature in patients with multiple piloleiomyomas (cutaneous leiomyomas) is pain, which can be spontaneous or induced by cold or tactile (eg, pressure) stimuli. The pain or tenderness also may be secondary to pressure on nerve fibers within the tumor; however, some authors believe it may be solely due to contraction of muscle fibers. Symptoms are also reported to occur with menses or pregnancy. See the image below.
Many solitary piloleiomyomas are similarly symptomatic. However, genital leiomyomas are usually asymptomatic solitary lesions arising from the dartoic, vulvar, or mammillary muscles in the genital region or on the nipple.
See Clinical Presentation for more detail.
Features of individual piloleiomyomas include the following:
Smooth, firm papules or nodules
Usually smaller than 2 cm in diameter
Reddish brown in color
Usually tender to palpation
Usually found on a lower extremity
Fixed in the skin but can be easily moved over the deeper subcutaneous tissues
Multiple piloleiomyomas can occur on the face, trunk, or extremities. Various distribution patterns are reported, including bilaterally symmetric, grouped, dermatomal, and linear patterns.
Features of angioleiomyomas (vascular leiomyomas) include the following:
Most commonly present as solitary skin-colored nodules
Usually well-defined, fairly deep dermal nodules that are smaller than 4 cm
Often, pain to palpation
Occur predominantly on the lower extremities, less commonly on the head or trunk, and rarely on the hands or in the mouth [3, 4, 5]
Leiomyomas of the vulva or scrotum may be larger than those already described above. Leiomyomas of the nipple and piloleiomyomas are generally similar in size.
Laboratory testing is generally not necessary for evaluation of leiomyomas unless there is abnormal vaginal bleeding or to rule out other conditions. The measurement of hemoglobin and/or hematocrit levels might be considered in patients with multiple leiomyomas, because erythrocytosis is reported in rare cases.
Imaging studies are not routinely performed for leiomyomas; however, angioleiomyomas do have characteristic findings on ultrasonographic (including color Doppler) and magnetic resonance images. Uterine leiomyomas (also called fibroids) may be assessed by Doppler ultrasonography assessment before uterine artery embolization.
Tissue examination is necessary to establish the diagnosis. Therefore, a partial or excisional biopsy is indicated.
See Workup for more detail.
All leiomyomas are tumors; therefore medical management has a limited role in the resolution or destruction of these lesions. However, pharmacologic intervention may alleviate associated pain.
The following medications are used in women with leiomyomas, primarily for analgesia:
Alpha-adrenergic blocking agents (eg, phenoxybenzamine)
Calcium channel blockers (eg, nifedipine)
Anticonvulsants (eg, gabapentin)
Surgical excision or ablation of leiomyomas may be helpful for some symptomatic women.
Leiomyomas are benign soft tissue neoplasms that arise from smooth muscle; they were first described by Virchow in 1854. The hereditary form, which causes, multiple leiomyomas, was originally noted by Kloepfer et al in 1958. They can develop wherever smooth muscle is present. Malignant transformation probably does not occur. A 2006 report of a cutaneous leiomyosarcoma with myxoid alteration in a scar of a piloleiomyoma that had been excised 3 years previously probably does not represent a case of malignant transformation.
Three fairly distinct types of cutaneous leiomyomas exist: piloleiomyomas, angioleiomyomas, and genital leiomyomas. This classification reflects the most logical origin of the smooth muscle tumor and corresponds to the histologic or anatomic site where the leiomyomas are found. Piloleiomyomas are believed to arise from the arrector pili muscle of the pilosebaceous unit, whereas angioleiomyomas originate from smooth muscle (ie, tunica media) within the walls of arteries and veins. Leiomyomas derived from the dartos muscle of the scrotum and the labia majora, as well as those derived from the erectile muscle of the nipple, are classified as genital leiomyomas. Tumors in each classification have distinct clinical and/or histologic characteristics.
The pathogenesis of leiomyomas remains obscure. Angioleiomyomas and genital leiomyomas usually occur as solitary lesions, whereas piloleiomyomas may be either solitary or multiple, at times numbering in the thousands. The arrector pili muscle, from which piloleiomyomas originate, attaches proximally to the hair follicle and distally to multiple attachment points within the papillary and reticular dermis, as well as to the basement membrane. Piloleiomyomas can plausibly emerge from each of these various points of insertion and occur as multiple tumors. Multiple lesions can be inherited as an autosomal-dominant trait with variable penetrance, or they can occur sporadically. Unfortunately, even less is known about the potential pathophysiologic or genetic features of other leiomyomas.
The pathogenesis of pain associated with these lesions is also a mystery. Some authors have suggested that pain could result from local pressure by the tumor on cutaneous nerves. However, the histologic findings do not show that prominent nerve fibers are associated with these tumors. Others have theorized that specific infiltrating cells may play a role; one study of 24 angioleiomyomas revealed that painful tumors had fewer mast cells than asymptomatic ones. Yet others have suggested that muscle contraction may be pivotal in the induction of pain.
The excitation of the arrector pili muscle occurs via the sympathetic nervous system. Norepinephrine, secreted by postganglionic nerve fibers, activates the alpha-receptors of the muscle. Muscle contraction ensues; this is triggered by the influx of ions, most specifically calcium. Understanding this basic physiologic process may be relevant to the medical treatment of symptomatic leiomyomas.
Leiomyomas may be categorized into the following 4 types:
Genital leiomyoma (solitary)
Leiomyomas are uncommon. Genital leiomyomas tend to be the least common of the 3 types.
International frequency data does not differ from the US frequency data.
Because cutaneous leiomyomas are benign tumors, they do not directly affect mortality. However, one case report involves an angioleiomyoma that occurred in association with a leiomyosarcoma. The relevance of this association is unknown.
Associated morbidity may be due to spontaneous lesional pain, as well as pain evoked by cold and/or tactile hypersensitivity. Additionally, multiple piloleiomyomas have the potential to be cosmetically disfiguring.
A racial predilection is not described, except in regard to oral angioleiomyomas, for which the white-to-black ratio has been reported to be 3:1
The incidences of piloleiomyomas in men and women appear to be about equal. Women who have multiple cutaneous piloleiomyomas may also have uterine leiomyomas (also known as fibroids). If the latter are present, the patient most likely has a familial condition called familial leiomyomatosis cutis et uteri, or Reed syndrome. Reed syndrome is thought to be inherited as an autosomal-dominant trait with incomplete penetrance. As such, not all women in a family are affected, and those who are may have only cutaneous, only uterine, or both cutaneous and uterine leiomyomas.
Angioleiomyomas are more common in women than in men, with a ratio of 2:1 overall, however the solid subtype occurs more commonly in females (3:1), the venous subtype occurs more commonly in males, and the least common of the three, the cavernous subtype, is four times more common in males.[1, 11]
Because genital leiomyomas are rare, data to determine whether a sexual predilection exists are inadequate.
Cutaneous leiomyomas are more likely to occur in adults than in children. However, isolated reports of cutaneous leiomyomas in children exist, including one involving a nonspecified type of solitary cutaneous leiomyoma on the heel of a neonate at birth.
Multiple piloleiomyomas generally occur in those aged 10-30 years. When solitary, piloleiomyomas usually appear later. For example, in a series of 28 solitary cutaneous leiomyomas, the mean patient age at presentation was 53 years.
Angioleiomyomas most often occur in those aged 20-60 years, although some investigators report a narrower window of increased incidence in those aged 20-40 years. In a retrospective clinicopathologic analysis of 562 angioleiomyomas, the mean age of the patients was 47 years; their overall age range was 12-84 years.
Leiomyomas typified as genital leiomyomas are rare enough that an age predilection is not generally described.
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