Congenital insensitivity to pain in four related Saudi families.
Congenital insensitivity to pain (hereditary sensory and autonomic neuropathy [HSAN] type V) is a rare disorder of pain perception in which pain sensation is absent from birth, with no other neurologic deficits. We report five Saudi patients (three male and two female) age 10 months to 23 years who lacked pain sensation from birth but have normal appreciation of other sensory modalities. They are from four related families who are descended from one grandfather. The patients had sustained many painless injuries resulting in fractures and disfigurement, but otherwise are completely normal.
Karkashan
Eman M
EM
Department of Dermatology and Venereology, Asir Central Hospital, and Department of Pediatrics, King Khalid University, Abha, Saudi Arabia.
Joharji
Hanan S
HS
Al-Harbi
Naffaa N
NN
D005260:Female; D020022:Genetic Predisposition to Disease; D009477:Hereditary Sensory and Autonomic Neuropathies / Q000175:diagnosis / Q000235:genetics; D006801:Humans; D007223:Infant; D000699:Pain Insensitivity, Congenital / Q000175:diagnosis* / Q000235:genetics*; D010147:Pain Measurement; D010375:Pedigree; D011379:Prognosis; D012529:Saudi Arabia; D012720:Severity of Illness Index