title: 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 photosentivity with milia and hypertrichosis. The diagnosis of lipoid proteinosis was confirmed by histopathology and by the findings of normal blood porphyrin levels. The condition is inherited as an autosomal recessive disorderm 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.
authors.affiliation: Departments of Dermatology, Pathology, and Surgery, College of Medicine and Medical Sciences, King Faisal University, Dammam, Saudi Arabia.
authors.forename: M A
authors.initials: MA
authors.lastname: Uthman
authors.forename: M B
authors.initials: MB
authors.lastname: Satti
authors.forename: M E
authors.initials: ME
authors.lastname: Baraka