ABSTRACT

Lipoid proteinosis (LP) is an autosomal recessive rare metabolic disease characterized by hyaline-like depositions in the skin and mucous membranes. It has been reported that LP has three cardinal symptoms, namely hoarseness of voice, budding papular lesions on the eyelids and intracranial calcifications. The patient presented here was a 20 year old male has been having a hoarseness of voice and ulcerating wounds on different parts of body which left scars for a long time. He also complained from seizures since he was four. His mother and father were second degree relatives. A cousin of his father also had similar skin lesions. On examination, the patient had squamic lesions on face and hyperpigmented macular post-inflammatory hiperpigmented lesions on his body and shoulder. Cranial MR investigation revealed sulcal variation on the left parietal region (polymicrogyria). Skin punch biopsy on the frontal region showed eosinophylic material causing mild swelling just below epidermis and keratinized material in reticular dermis plus foreign body reaction type granuloma foci formation against the hair shaft. A diagnosis of lipoid proteinosis was made. Although, rare, a diagnosis of LP must be remembered in epilepsy patients with typical findings like a history of hoarseness of voice and papular skin lesions.

Keywords: Lipoid proteinosis, epilepsy, hoarseness of voice