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

R Maxwell Regester1, Molly Antonson1, Nicole N Harter1,2

  • 1Department of Dermatology, University of Nebraska Medical Center, Omaha, Nebraska, USA.

International Journal of Dermatology
|April 18, 2025
PubMed

Insights

This study identifies a homozygous ECM1 mutation in five male patients with lipoid proteinosis (LP), a rare genetic skin disorder. Early dermatologic recognition is crucial for diagnosing this inherited condition and managing systemic effects.

Area of Science:

  • Dermatology
  • Genetics
  • Rare Diseases

Background:

  • Lipoid proteinosis (LP) is a rare autosomal recessive genodermatosis.
  • It is characterized by hyaline deposition in the skin and mucous membranes.
  • Clinical manifestations include hoarseness, eyelid papules, and skin plaques.

Purpose of the Study:

  • To report characteristic clinical and genetic findings in patients with lipoid proteinosis.
  • To emphasize the importance of early dermatologic diagnosis of systemic disease.
  • To highlight the role of skin and mucosal examination in identifying rare inherited disorders.

Main Methods:

  • Clinical case series of five male patients.
  • Histopathologic analysis for PAS-positive perivascular hyaline deposition.
  • Genetic testing to identify mutations in the ECM1 gene.

Main Results:

  • All five patients, including four siblings, presented with progressive hoarseness, waxy eyelid papules, mucosal thickening, and skin plaques.
  • Histopathology confirmed perivascular hyaline deposition.
  • Genetic testing revealed a homozygous ECM1 mutation in all affected individuals.

Conclusions:

  • The findings confirm lipoid proteinosis (LP) in the affected patients.
  • Early dermatologic recognition of characteristic skin and mucosal findings is vital for diagnosing this rare genodermatosis.
  • Multidisciplinary evaluation facilitates timely diagnosis and management of LP.
Keywords:
genetic diseasesgenetic mechanismsgenodermatosessigns of systemic diseasesystemic disease

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