Multisystem involvement in congenital insensitivity to pain with anhidrosis (CIPA), a nerve growth factor receptor(Trk A)-related disorder.
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.
Toscano
E
E
Department of Paediatrics, Federico II University, Naples, Italy.
della Casa
R
R
Mardy
S
S
Gaetaniello
L
L
Sadile
F
F
Indo
Y
Y
Pignata
C
C
Andria
G
G
D000015:Abnormalities, Multiple / Q000175:diagnosis / Q000235:genetics; D002648:Child; D002869:Chromosome Aberrations / Q000235:genetics; D025063:Chromosome Disorders; D005260:Female; D005598:Fractures, Spontaneous / Q000175:diagnosis / Q000235:genetics; D005808:Genes, Recessive / Q000235:genetics; D006617:Hip Dislocation / Q000175:diagnosis / Q000235:genetics; D006801:Humans; D007007:Hypohidrosis / Q000175:diagnosis / Q000235:genetics*; D008607:Intellectual Disability / Q000175:diagnosis / Q000235:genetics; D000699:Pain Insensitivity, Congenital / Q000175:diagnosis / Q000235:genetics*; D010641:Phenotype; D020917:Receptor, trkA / Q000235:genetics*
D020917:Receptor, trkA