Work

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

Year: 2025

Type: article

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.

Source: International Journal of Dermatology

DOI: 10.1111/ijd.17766

Authors: R. Maxwell Regester, Molly Antonson, Nicole N. Harter

Institution: University of Nebraska Medical Center

Language: English

Topic: Genetic and rare skin diseases.

Subfield: Genetics

Field: Biochemistry, Genetics and Molecular Biology

Domain: Life Sciences

SDG: Good health and well-being

Open Access status: hybrid

Estimated APC paid: $4,150