Lipoid Proteinosis

Case report


A. EL-Zurghany, B. Zendah, M.Benghazi1

Department of Dermatology, Faculty of Medicine, Elfateh University, Tripoli, Libya

JMJ Vol.3 No.1 (March) 2004: 86-88


Lipoid Proteinosis (Hylinosis Cutis et Mucosae) is a very rare autosomal recessive disorder characterized by deposition of hyaline-like material in the skin, mucosa and internal organs that usually present in infancy with hoarseness. We report a 10-year old boy with typical clinical and histological features of lipoid Proteinosis. His condition started since birth when his parents noticed weakness in his crying and later hoarseness of voice. Family history revealed parental consanguinity and one brother was affected with hoarseness of voice, died at the age of 3 years. The earliest skin lesions were vesicles and bullae over the hands, face, and then spread to the chest and thighs. Later he developed dryness of the skin with yellowish waxy papules over face, neck and extremities. Scalp hair was sparse and brittle with thickening and stiffness of the tongue and lips. There were yellowish pearly papules along the free edge of the upper eyelid. Also there were warty-like lesions over elbows and to a less extent knees. Teeth were hypoplastic. Serum protein electrophoresis and lipid profile were within normal. Skull X-ray did not show any evidence of intracranial calcification. Histopathological examination of skin biopsy confirmed our clinical diagnosis. The dermis showed extensive deposition of hyaline material consisting of thick homogeneous bundles that extend perpendicular to skin surface and surrounding blood vessels. To the best of our knowledge this is the first Libyan case reported in the literature with parental consanguinity and positive family history (one brother was affected).

Keywords: Lipoid Proteinosis, Hylinosis Cutis et Mucosae