부산대학교 도서관

Abstract: We present a case of squamous cell carcinoma (SCC) of the wrist in a patient affected by HSAN2A, a rare early-onset autosomal recessive inherited disorder with less than 50 cases reported in history. HSAN2A is characterized by sensory loss of perception of pain, touch, and heat due the involvement of large and small fiber nerves. Consequently, unnoticed injuries and neuropathic skin promote ulcerations and infections leading to spontaneous (65%) or surgical amputation of digits and limbs. Self-mutilation may begin as early as 4 months of age. SCC is a common skin cancer normally related to increasing age, sun exposure, and immunosuppression HSAN2A not correlated. A 38-year-old man affected by HSAN2A suffered from a cutaneous neoformation of the right radiocarpal joint measuring 5 × 4 cm. It presented a fast-growing pattern during the last 3 months. After cancer staging, he had a radical surgical excision of the tumor. The defect was covered with a split thickness skin graft harvested from the anterolateral margin of the patient’s right thigh. The healing process was monitored with special attention due to his genetic neuropathy. No self-mutilation process started, and the healing process was the same of a health patient. At 18-month follow-up, we observed no recurrence nor self-mutilation. In conclusion, a patient affected by HSAN2A with a suspicious cutaneous neoformation should immediately be sent for consultation to a multidisciplinary plastic surgery and oncology team since in our opinion a conservative approach is not indicated.