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- W2523537622 abstract "A 1-year-old girl presented with dystrophic fingernails and ulcerating lesions and scars of the distal portion of the fingers. Since birth she had been suffering from recurrent episodes of hyperpyrexia, especially when the external temperature was high. Neurological examination revealed complete analgesia, the other sensory perceptions being normal. Evaluation of sweat gland activity using Minor's method showed almost complete anhidrosis. During the 2-year follow-up the patient undertook self-extraction of two of her teeth and developed painless fractures of the right tibia, resulting in a neuropathic arthropathy of the knee (Charcot joint). Clinical manifestations of congenital insensitivity syndrome usually appear at the time of tooth eruption. Dermatological signs include ulcerations and marked edema of the tongue and lips, periungual ulcerations, nail deformities and even severe finger mutilations." @default.
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- W2523537622 date "1996-06-12" @default.
- W2523537622 modified "2023-09-22" @default.
- W2523537622 title "Congenital insensitivity to pain with anhidrosis" @default.
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