Lipoid proteinosis-new immunopathological observations

Abstract

Lipoid proteinosis is described in a family of Scottish descent. Chromosome studies performed on five members were normal. Direct immunofluorescence studies performed on skin with anti-collagen antibodies showed an abnormal distribution of collagen within the skin. No abnormality was detected in DNA extracted from lymphocytes taken from five family members, when probed with gene probes to collagen types alpha 1 (I), alpha 2 (I), alpha 1 (III) and alpha 2 (V).