Successful Treatment of Lipoid Proteinosis in a Young Adult with Isotretinoin

Lipoid proteinosis (LP) is an extremely rare autosomal recessive genodermatosis, characterized by persistent hoarseness and classical skin lesions. Amorphous hyaline depositions may affect any organ, but mainly the face and extremities. These depositions cause limitations in tongue movement, and hence, difficulty speaking. Biopsies of skin lesions usually show massive deposits of homogeneous, acidic, hyaline-like material at the epidermal junctions and superficial dermis that stains positive for periodic acid-Schiff stain (PAS-D). At present, there is no specific treatment for this extremely rare disease, but some studies have reported that treatment with acitretin and etretinate results in some improvement. This paper reports on the effectiveness of isotretinoin for the first time for treatment of this disease.