Lipoid proteinosis: clinical, genetic, and pathological study of a Saudi Arabian family

ABSTRACT

We present the morphological features and clinical progression of lipoid proteinosis observed in six patients from a Saudi family. The index case presented with hoarseness and characteristic skin lesions. Some of the patients had photosensitivity with milia and hypertrichosis. The diagnosis of lipoid proteinosis was confirmed by histopathology and by the finding of normal blood porphyrin levels. The condition is inherited as an autosomal recessive disorder, and consanguinity was an important factor. The rarity of this condition and the common occurrence of close-relative intermarriages in Saudi Arabia prompted this report, which we believe is the first and largest family with lipoid proteinosis possessing an established Arabian ancestry