We report Bjornstad syndrome in a 5-year-old girl with severe bilateral congenital loss of hearing and pili torti. The mode of inheritance of this rare syndrome seems to be heterogeneous. A maternal uncle of the patient was deaf from birth and his hair had shown the same abnormalities at the same age; an autosomal recessive transmission can be assumed.
We report a very curious case of a condition which has never been described before. Its features are comparable but not quite identical with those of Christensen's saltpetre-induced PXE which the author considers to be an exogenous variety of pseudoxanthoma elasticum. Since our case appeared spontaneously without any accidental episode we prefer to designate it under the name 'localized PXE'. The chequered appearance of the lesions seems to be the characteristic feature of the disease.
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