Congenital Sensory Neuropathy With Anhidrosis (Hereditary Sensory Neuropathy Type Iv)

Abstract

Hereditary sensory neuropathies comprise a group of rare childhood diseases which are classified into four types. We present a Greek boy 11 years old with hereditary sensory neuropathy type IV (congenital sensory neuropathy with anhidrosis) whom we have followed up and studied during the last seven years. Our patient presented for the first time with recurrent hyperthermic episodes without sweating, and lack of pain sensation from the first months of life. Insensitivity to pain and thermal stimuli had resulted in burns on the extremities and self-mutilation of the tongue, lips and fingertips. When he was five and seven years old respectively he had two painless fractures of the ankles which led to insoluble orthopedic problems. He also suffered from mental retardation, which was obvious from his first years of life. Sweat gland investigations showed significant hypohidrosis or anhidrosis although the sweat glands were normal microscopically. Hereditary sensory neuropathy type IV, although rare, is important for dermatologists because it must be differentiated from other anhidrotic syndromes, and in view of the poor prognosis of the condition.

Hereditary sensory and autonomic neuropathy: review and a case report with dental implications

“…Hereditary sensory and autonomic neuropathy (HSAN) which is encountered infrequently is a genetic disease of unknown aetiology ( Bye et al ., 1990 ; Hadzis et al ., 1992 ). It is categorized in five different types by its symptoms.…”

“…HSAN type 5: There is congenital loss of sense of pain, which affects the extremities. In contrast, muscular rigidity, deep tendon reflexes, and senso of mechanoreceptor and cutaneous neural junctional action potential are normal ( Amir, Jenke & Shapiro, 1985; Justice, 1985; Bye et al ., 1990 ; Hadzis et al ., 1992 ; Pavone et al ., 1992 ; Cardoso & Jancowich, 1993; Libertarb et al ., 1993 ).…”

Congenital Insensitivity to Pain and Musculoskeletal Involvement: A Case Report and a Mini Review

“…Due to insensitivity decubitus ulcers or pressure sores may develop around elbows, knees, feet and even hands. Burn injuries are also very commonly seen due to lack of temperature sensations [18]. The ulcers may get secondarily infected and pave way to formation of soft tissue abscess and even osteomyelitis in case underlying bone is affected.…”

Congenital Insensitivity to Pain Syndrome with Anhidrosis. Review of Literature

“…Short-latency somatosensory evoked potentials show marked prolongation of the central conduction time 25 and microneurography reveals abnormal activity of somatic A-delta and C fibers in the nerves of the skin 26 . A negative sympathetic skin response may also be helpful in the diagnosis due to the lack of sudomotor nerves in skin biopsy 27,28 .…”