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Congenital insensitivity to pain with anhidrosis (CIPA) (hereditary sensory and autonomic neuropathy type 4) is a rare autosomal recessive disease, and about 33 cases have been previously reported. Complete morphologic and morphometric studies have been undertaken in only a few cases. Reduction in the number of unmyelinated and small myelinated fibers of biopsied sural nerve was found in most of the specimens studied by electron microscopy.' In contrast, only one previous ultrastructural study documented the absence of eccrine sweat gland innervation.2 We are confirming here such lack of innervation. Recently, mutations in the gene coding for receptor tyrosine kinase A for the nerve growth factor were documented in four patients with congenital insensitivity to pain with anhidrosis for the first time.3
Case Report
Our patient (EK.), an 8-year-old girl, was born normally at term after an uneventful pregnancy to first cousin healthy parents. She has four siblings, the youngest of them (R.K.) was found to have the same disease. She first presented at the age of 24 hours with fever, which persisted for 8 weeks. She had mild hypotonia, hyporefiexia, and did not cry during blood sampling. Extensive investigations revealed no cause for the fever. Parents subsequently learned to control it by tepid sponging, antipyretics, and avoidance of sun. They reported that she was never seen sweating. She walked at 20 months and started speaking at 18 months, but never developed sphincter control. She had several admissions since the neonatal period for bronchopneumonia, otitis media, and recurrent febrile convulsions (with fever of 42C induced by the very high environmental temperature in Kuwait). At the age of 5 years she was admitted in heart failure secondary to severe chronic iron deficiency anemia (hemoglobin was 3.2 g/dL).The heart rate on electrocardiogram (EKG) was noted to be only 130/min. At 7.5 years of age she developed osteomyelitis of the left tarsal bones caused by methicillin resistant StaphyLococcus aureus (MRSA). By age 8 years, she had a severely mutilated tongue and most of her teeth were absent. She had several scars and deep ulcers involving the mouth (Figure lA), trunk, and extremities (Figures lB and C). Her skin was dry and warm, with thick fissured palms and soles, alopecia of the scalp, eye brows, and eye lashes (from...