CONGENITAL INSENSITIVITY TO PAIN WITH ANHIDROSIS

A 1-year-old girl presented with dystrophic fingernails and ulcerating lesions and scars of the distal portion of the fingers. Since birth s he had been suffering from recurrent episodes of hyperpyrexia. especia lly when the external temperature was high. Neurological examination r evealed complete analgesia, the other sensory perceptions being normal . Evaluation of sweat gland activity using Minor's method showed almos t complete anhidrosis. During the 2-year follow-up the patient underto ok self-extraction of two of her teeth and developed painless fracture s of the right tibia, resulting in a neuropathic arthropathy of the kn ee (Charcot joint). Clinical manifestations of congenital insensitivit y syndrome usually appear at the time of tooth eruption. Dermatologica l signs include ulcerations and marked edema of the tongue and lips, p eriungual ulcerations, nail deformities and even severe finger mutilat ions.