Hereditary insensitivity to pain with anhidrosis.
Hereditary sensory neuropathy type IV is an autosomal-recessive disorder characterized by congenital insensitivity to pain and anhidrosis and resulting in recurrent hyperpyrexia, self-mutilation, recurrent infections, chronic osteomyelitis, bone and joint deformities, and limb amputations. Described is a child with signs as well as skin and nerve biopsy results compatible with this disease, emphasizing the importance of early diagnosis and appropriate medical and educational care to prevent complications.
Berkovitch
M
M
Division of Pediatrics, Assaf Harofeh Medical Center, Israel.
Copeliovitch
L
L
Tauber
T
T
Vaknin
Z
Z
Lahat
E
E
D001706:Biopsy; D002675:Child, Preschool; D003241:Consanguinity; D005260:Female; D009477:Hereditary Sensory and Autonomic Neuropathies / Q000150:complications / Q000175:diagnosis* / Q000235:genetics; D006801:Humans; D007007:Hypohidrosis / Q000209:etiology*; D008607:Intellectual Disability / Q000209:etiology; D001523:Mental Disorders / Q000209:etiology; D009460:Neurologic Examination; D010019:Osteomyelitis / Q000209:etiology*; D000699:Pain Insensitivity, Congenital / Q000209:etiology*; D013497:Sural Nerve / Q000473:pathology; D013545:Sweat Glands / Q000473:pathology