Lipoid proteinosis (LP) is a rare autosomal recessive genodermatosis characterized by the deposition of amorphous hyaline material in the skin, mucosa, and viscera. The classic manifestation is onset in infancy with a hoarse cry due to laryngeal infiltration. Skin and mucous membrane changes become apparent clinically, and the disease typically follows a slowly progressive, yet often benign, course. Virtually any organ may be involved, but visceral involvement rarely leads to clinically significant consequences. The aim of this study was to analyze the epidemiologic, genetic and clinical findings of reported cases in the Middle East and North Africa, reporting a case of LP to emphasize the occurrence of this condition in Saudi Arabia and to update information on latest development in diagnosis and management of LP. We review most of the cases reported in the Middle East and North Africa and analyze clinical signs and investigative findings, and we report a case with characteristic clinical and histological findings of LP. In the Middle East and North Africa, we found that the prevalence of LP is highest in Turkey with forty-eight reported cases. The reported cases in Saudi Arabia reached ten cases. In Iran, nine cases were reported, six of them belonging to two families. The fourth country in the prevalence of LP is Tunisia with five reported cases from the same family, followed by Kuwait with four reported cases. In our review of eightyone cases reported in the literature, we found variable incidence of mucocutaneous lesions that include multiple depressed acneiform scars on the face and extremities (96.29%, 78 cases), beaded eyelid papules (86.41%, 70 cases), thickening of the skin (51.85%, 42 cases), verrucous plaques on the knee and elbow (37.03%, 30 cases), involvement of the tongue (55.55%, 45 cases), and thickening of the frenulum (48.14%, 39 cases). Although LP has a benign course, it can be a cause of morbidity in these patients. Thus, a detailed examination to determine the extent of involvement is important from time to time. The pathogenesis of LP is still an enigma, and the rarity of these cases makes them worthy of reporting to facilitate a better understanding of the disease.
Key words: Lipoid Proteinosis; Systematic Review; Case Report; Middle East; North Africa; Saudi Arabia