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Absent innervation of skin and sweat glands in congenital insensitivity to pain with anhidrosis.
Nolano, M; Crisci, C; Santoro, L; Barbieri, F; Casale, R; Kennedy, W R; Wendelschafer-Crabb, G; Provitera, V; Di Lorenzo, N; Caruso, G.
Afiliación
  • Nolano M; Salvatore Maugeri Foundation, Center of (BN), Telese Terme, Italy. mnolano@fsm.it
Clin Neurophysiol ; 111(9): 1596-601, 2000 Sep.
Article en En | MEDLINE | ID: mdl-10964070
OBJECTIVES: A case of a 10-year-old girl with congenital insensitivity to pain with anhidrosis (CIPA) is reported. METHODS AND RESULTS: Parents referred several hyperpyretic episodes without sweating occurring since birth, and insensitivity to pain, noticed when the child was 2 years old. Her body had many bruises and scars, bone fractures and signs of self-mutilation. Neurological examination was normal except for insensitivity to pain. Her IQ was 52. Electrical and tactile sensory nerve conduction velocities were normal. The patient was unable to detect thermal stimuli. Histamine injection evoked a wheal but not a flare; pilocarpine by iontophoresis did not induce sweat. Microneurography showed neural activity from A-beta sensory fibers while nociceptive and skin sympathetic C fiber nerve activity was absent. No small myelinated fibers and very rare unmyelinated fibers were found in the sural nerve. Immunohistochemistry showed a lack of nerve fibers in the epidermis and only few hypotrophic and uninnervated sweat glands in the dermis. CONCLUSIONS: The lack of innervation of the skin (C and A-delta fibers) appears to be the morphological basis of insensitivity to pain and anhidrosis, and is consistent with the loss of unmyelinated and small myelinated fibers in the sural nerve biopsy.
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Colección: 01-internacional Base de datos: MEDLINE Asunto principal: Piel / Glándulas Sudoríparas / Neuropatías Hereditarias Sensoriales y Autónomas Límite: Child / Female / Humans Idioma: En Revista: Clin Neurophysiol Asunto de la revista: NEUROLOGIA / PSICOFISIOLOGIA Año: 2000 Tipo del documento: Article País de afiliación: Italia Pais de publicación: Países Bajos
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Colección: 01-internacional Base de datos: MEDLINE Asunto principal: Piel / Glándulas Sudoríparas / Neuropatías Hereditarias Sensoriales y Autónomas Límite: Child / Female / Humans Idioma: En Revista: Clin Neurophysiol Asunto de la revista: NEUROLOGIA / PSICOFISIOLOGIA Año: 2000 Tipo del documento: Article País de afiliación: Italia Pais de publicación: Países Bajos