Superficial fibromatosis

Superficial fibromatosis (Orphanet code 199257) refers to a group of benign but locally aggressive fibroproliferative disorders that arise from the fascia and subcutaneous tissues. The most well-known forms include Dupuytren disease (palmar fibromatosis), Ledderhose disease (plantar fibromatosis), and Peyronie disease (penile fibromatosis). In some patients, knuckle pads (Garrod pads) may also be present. These conditions are characterized by the abnormal proliferation of myofibroblasts, leading to the formation of firm nodules and fibrous cords or bands within the affected tissues. Over time, progressive contractures can develop, particularly in the hands and feet, leading to functional impairment. In Dupuytren disease, the palmar fascia thickens and contracts, causing one or more fingers (most commonly the ring and little fingers) to bend toward the palm, limiting hand function. Plantar fibromatosis causes painful nodules on the sole of the foot, which may interfere with walking. Peyronie disease involves fibrous plaques in the tunica albuginea of the penis, potentially causing curvature, pain, and erectile dysfunction. These conditions may occur in isolation or in combination, and the co-occurrence of multiple forms is sometimes referred to as Dupuytren diathesis, suggesting a stronger genetic predisposition. The exact cause of superficial fibromatosis is not fully understood, but it is considered multifactorial, involving both genetic susceptibility and environmental or acquired risk factors such as diabetes, alcohol use, smoking, manual labor, and trauma. A family history is frequently observed, particularly in Dupuytren disease, suggesting a significant hereditary component. Treatment options vary depending on the severity and location. For palmar fibromatosis, options include observation, needle aponeurotomy (percutaneous fasciotomy), collagenase injections (where available), and surgical fasciectomy for advanced contractures. Plantar fibromatosis may be managed with orthotics, corticosteroid injections, radiation therapy, or surgery in refractory cases. Peyronie disease treatments include oral medications, intralesional injections, and surgical correction. Recurrence after treatment is common, particularly in patients with a strong diathesis.

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