Hereditary sensory neuropathy type I

Abstract

AbstractHereditary sensory neuropathy type I (HSN‐I) is a rare genetic disorder that usually begins in childhood, predominantly affecting the peripheral nerves of the lower limbs, and occasionally also those of the upper extremities. Foot deformities such as pes cavus, pes planus, sensory loss, painless injuries or burns, recurrent foot ulceration resulting in osteonecrosis and osteolysis subsequently necessitate amputations. Herein, we describe a 45‐year‐old man with progressive foot ulceration and self‐amputation during previous 20 years. The diagnosis of HSN was made because of a typical clinical pattern and similar occurrence in his brother. Laboratory investigations showed peripheral sensory neuropathy and a high erythrocyte sedimentation rate.