Congenital insensitivity to pain and anhydrosis: a report of two cases.
نویسندگان
چکیده
We report on 2 patients with congenital insensitivity to pain and anhydrosis. The first one was a 7-month-old boy who presented with non-traumatic, haematogenous septic dislocation of the right elbow with physeal separation of the distal humerus. The second one was a 3-year-old girl suspected to have Job syndrome with an altered immunological profile.
منابع مشابه
Congenital insensitivity to pain with anhydrosis: report of a family case
Congenital Insensitivity to pain with anhydrosis (CIPA) is a rare inherited disease. It is classified as hereditary sensory and autonomic neuropathy type IV. Pain insensitivity and autonomic deficits are present, but touch and pressure sensitivity are unimpaired. Mental retardation is usually present. We report a family case of a 5 years old girl and 2 years old boy with congenital insensitivit...
متن کاملCongenital insensitivity to pain and anhydrosis due to a rare mutation and that is complicated by inflammatory bowel disease and amyloidosis: a case report
Patients with congenital insensitivity to pain and anhydrosis syndrome are at risk for renal amyloidosis and inflammatory bowel disease. Physicians caring for such patients should be aware of these complications.
متن کاملCongenital Insensitivity to Pain and Anhydrosis: Diagnostic and Therapeutic Dilemmas revisited
First described in 1932 by Dearborn as 'congenital pure analgesia', congenital insensitivity to pain and anhydrosis (CIPA) or hereditary sensory and autonomic neuropathy (HSAN) type IV is an extremely rare autosomal recessive disorder. A 7-year-old female child who is an established case of congenital insensitivity to pain and anhydrosis visited the department of pediatric medicine with osteoar...
متن کامل[Congenital insensitivity to pain with anhydrosis].
Congenital insensitivity to pain with anhydrosis (CIPA) is a rare genetic disorder characterized by inability to feel pain and temperature, and decreased or absent sweating. Familiarity to this condition is important to avoid misdiagnosing it with leprosy and other peripheral nerve diseases. An inability to feel pain may lead to repeated self-trauma (tongue, lips and finger tips) ultimately lea...
متن کاملCongenital insensitivity to pain with anhydrosis in a Malaysian family: a genetic analysis.
A Malaysian family with congenital insensitivity to pain with anhydrosis was diagnosed based on clinical symptoms of chronic ulcers, joint deformities, malunited fractures, anhydrosis, and learning disabilities. We detected a compound heterozygous mutation in exon 16: V709L from the mother and G718S from the father. Two novel mutations were identified: at amino acid 709, a change of G to C at n...
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ورودعنوان ژورنال:
- Journal of orthopaedic surgery
دوره 21 1 شماره
صفحات -
تاریخ انتشار 2013