말단골용해를 동반한 제2형 유전성 감각신경병증 1예

Abstract

The hereditary sensory neuropathy is a very rare disease characterized by prominent sensory loss without corresponding motor involvement, but may be associated with autonomic features. Currently, the disease is divided into five main types and most frequent are Type I and Type II. The type II hereditary sensory neuropathy is characterized by autosomal recessive inheritance, onset in utero or in infancy, loss of touch-pressure sense more than pain and temperature sense, and almost total absence of myelinated nerve fibers. In this case, we describe a 23 years old female patient with acroosteolysis and heel ulcer who was diagnosed as hereditary sensory neuropathy type II.