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MULTISYSTEM INVOLVEMENT IN CONGENITAL INSENSITIVITY TO PAIN WITH ANHIDROSIS (CIPA), A NERVE GROWTH FACTOR RECEPTOR (TRK A)‐RELATED DISORDER
Author(s) -
Toscano E,
Della Casa R,
Mardy S,
Gaetaniello L,
Sadile F,
Indo Y,
Pignata C,
Andria G.
Publication year - 2000
Publication title -
journal of the peripheral nervous system
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1
H-Index - 67
eISSN - 1529-8027
pISSN - 1085-9489
DOI - 10.1111/j.1529-8027.2000.22-27.x
Subject(s) - anhidrosis , medicine , trk receptor , nerve growth factor , dermatology , pathology , receptor
Congenital insensitivity to pain with anhidrosis (CIPA), a rare autosomal recessive disorder, is characterized by insensitivity to pain, self‐mutilating behaviour, anhidrosis and recurrent hyperpyrexia. It is a hereditary sensory and autonomic neuropathy, also classified as HSAN, due to a defect of the receptor for nerve growth factor. CIPA is the first human genetic disorder caused by a defect in the neurotrophin signal transduction system. This is the first clinical report of CIPA patients characterized on molecular grounds. The clinical phenotypes of our patients show that CIPA is characterized by a multisystem involvement besides the nervous system, including bone fracture with slow healing, immunologic abnormalities, such as low response to specific stimuli, chronic inflammatory state ending in systemic amyloidosis. The molecular characterization allows a better understanding of most of the clinical features.