Clinicopathological Challenge: Five Males Presenting With Progressive Skin Thickening and Hoarse Voices.

Abstract

Five male patients, including four siblings and one unrelated child, presented with progressive hoarseness, waxy eyelid papules, mucosal thickening, and skin plaques. Histopathologic analysis revealed PAS-positive perivascular hyaline deposition, and genetic testing confirmed a homozygous ECM1 mutation in all patients, consistent with lipoid proteinosis (LP). This rare autosomal recessive genodermatosis highlights the importance of early dermatologic recognition of systemic disease. Multidisciplinary evaluation enabled timely diagnosis and informed management. This case emphasizes characteristic findings of LP and underscores the diagnostic value of skin and mucosal examination in rare inherited disorders.