A generalized multiple cutaneous piloleiomyomatosis in a young male: rare case report.

Cutaneous piloleiomyoma is a rare benign tumor of skin originating from skeletal muscle of arrector pili attached to hair follicle. It can be single or multiple, solitary piloleiomyoma are common over genitalia. Multiple cutaneous piloleiomyomas are rare and they can cause pain on exposure to cold or with emotional disturbance. The prognosis of cutaneous piloleiomyomas after surgical excision is good. Here, we present a rare case of generalized multiple cutaneous piloleiomyoma in a young male.

What was known?

Multiple Cutaneous piloleiomyomas are associated with uterine fibroids in women (Reed's syndrome) and it is a marker of a condition called hereditary leiomyomatosis and renal cell cancer (HLRCC).

Introduction

Leiomyoma is a benign tumor of the smooth muscle. It is common in uterus in females. The cutaneous leiomyoma is rare, and solitary occurrence is more common than generalized. Besnier, in 1880, classified leiomyomas as solitary and multiple.[1] Cutaneous leiomyomas originate from the skeletal muscle of the arrector pili, muscle of the hair follicle (piloleiomyoma), tunica dartos of the scrotum, mamillary muscle of the nipple (genital leiomyoma), and the smooth muscle of the blood vessels (angioleiomyoma).[2] In women, multiple cutaneous leiomyoma can be associated with uterine leiomyomas (Reed's syndrome).[3] The treatment of choice is surgical excision. The medical line of treatment has a limited role to play. Calcium channel blocker like nifedepine, phenoxybenzamine, and gabapentine have been used to control pain.[4-6]

Case Report

A 25-year-old unmarried man presented with generalized multiple painful tumors of 8 years duration. Lesions begun as small pea-sized, skin-colored papules over right lower limb. As it was asymptomatic, patient neglected the skin lesions. Gradually, the lesions over the right lower limb increased in size to 4-6 centimeters. For the past 4 years, multiple new lesions started appearing over trunk, left lower limb, and upper limb. Large lesions were painful for touch and cold. No history of ulceration, discharge from the lesions, or systemic complaints. No history of similar complaints in family/first-degree relatives. Birth and developmental history was normal. On examination, multiple soft to firm tumors of varying in size from 5 mm to 5 cms were seen over the entire length of right lower limb [Figures 1 and 2]. Few tumors were also seen over left lower limb, upper limb, upper chest, and back [Figure 3]. Tumors were mobile, tender with shiny skin and telengeictasia over surface. Palms and soles were normal. Oral and genital mucosa was normal. Histopathology revealed normal epidermis and dermis showing interweaving bundles of spindle-shaped cells of dermal smooth muscle, which were strongly eosinophilic [Figures 4 and 5]. Patient was started on daily oral 20 mg nifedepine. Large tumors of more than 3 centimeters were excised under local anesthesia, as they were very painful and cosmetically disfiguring.

Figure 1

Piloleiomyoma: Multiple skin-colored shiny tumors of varying size seen over entire right lower limb

Figure 2

Piloleiomyoma: Close-up view of the tumor. Note telengiectatic vessels over the surface of the tumor

Figure 3

Piloleiomyoma: Small tumors seen over upper chest

Figure 4

Piloleiomyoma: Epidermis normal, dermis showing interweaving bundles of spindle-shaped cells of dermal smooth muscle, which are strongly eosinophilic (H and E, ×100)

Figure 5

Piloleiomyoma: High power view of the interweaving bundles of spindle cells (H and E, ×400)

Discussion

Cutaneous leiomyomas comprises approximately 5% of all leiomyomas. Piloleiomyoma, angioleiomyoma, and genital leiomyoma are the 3 distinct types of cutaneous leiomyomas described.[7] Piloleiomyomas are common in the age group of 10-30 years.[3] They may be solitary or multiple and present as skin-colored to erythematous papulonodules over the extensor surface of the extremities, trunk, face, and neck. They may be disseminated, segmental,[8] or zosteriform[9] presentations over trunk. The arrector pili muscle, from which the piloleiomyomas originate, attaches proximally to the hair follicle and distally to the multiple attachment points within the papillary and reticular dermis and basement membrane zone. Hence, piloleiomyomas can originate from all these attachment points.

The characteristic feature in most of the patients with multiple leiomyomas is pain, which may be induced by cold, tactile, or emotional stimuli, but it can also be spontaneous. The pathogenesis of pain associated with leiomyomas is not clear. It may be due to the local pressure exerted by the tumor on cutaneous nerves; otherwise, the infiltrating mast cells may play some role. Others have suggested that muscle contraction may play a role in the induction of pain. The excitation of arrector pili muscle occurs via sympathetic nervous system. The influx of calcium ions at the motor nerve units causes muscle contraction. Hence, calcium channel blockers have a role in relieving pain associated with cutaneous leiomyoma.

Piloleiomyomas can be developed sporadically or transmitted genetically.[10] Since they often develop in papillary dermis, they are fixed to skin; however, they can be moved easily over the deeper subcutaneous tissues. Several conditions ban be associated with piloleiomyomas[11] like Reed's syndrome (associated with uterine leiomyoma), erythrocytosis/polycythemia, and visceral involvement (gastrointestinal tract and retroperitoneal area). The gene responsible for Reed's syndrome has been localized to chromosome 1q42.3-43, encoding for fumarate hydratase enzyme. Therefore, a detailed history, examination, and appropriate investigations should be carried out in patients with multiple piloleiomyomas. The important differential diagnosis includes nerofibroma, eccrine spiradenoma, dermatofibroma, and angiolipoma.

The treatment of solitary leiomyoma is surgical excision. In case of multiple leiomyomas, surgery can be done for lesions, which are large and painful. Chances of recurrence is high (50%) in patients of multiple leiomyoma. The aim of medical line of treatment is relieving pain. Various drugs have been tried with variable results,[11] calcium channel blockers like nifedepine, a-adrenoreceptor blockers (phenoxybenzamine), nitrates, analgesics, antidepressants, and gabapentin. CO2-laser ablation has shown good results.[12]

What is new?

Multiple cutaneous piloleiomyoma can also present without any risk of renal cell cancer in a young male. Surgical excision of large lesions will provide relief from pain and improve quality of life.