Abstract
Lipoid proteinosis: different clinical features in two siblings
- Department of Dermatology with Pediatric Dermatology Unit, Provincial Specialist Hospital, Wroclaw, Poland
- Department of Propaeudetics of Pediatrics and Rare Diseases, Chair of Pediatrics, Medical University of Wroclaw, Poland
- Department of Medical Genetics, Institute of Mother and Child, Warsaw, Poland
- NZOZ Meditest, Szczecin, Poland
Introduction
Lipoid proteinosis is a rare autosomal recessive disease caused by mutations in the extracellular matrix protein 1 gene (ECM1). Abnormal function of ECM1 protein leads to accumulation of hyaline material in tissues.
Objective
To present a case of a 6-year-old patient and his 4-year-old sister with different clinical features of lipoid proteinosis.
Case report
A six-year-old boy with chronic hoarseness presented to the Dermatology Department because of polymorphic cutaneous lesions: erythema, erosions, crusts, atrophic scars, foci of hypopigmentation and hyperpigmentation. Histological examination of the skin revealed hyaline deposits. The patient’s younger sister presented with beaded papules on the margin of the eyelids and chronic hoarseness. A genetic test revealed that ECM1 was compound heterozygous in both siblings.
Conclusion
One type of ECM1 gene mutation can determine various clinical manifestations of lipoid proteinosis.
Keywords
lipoid proteinosis, hialinosis cutis et mucosae, Urbach-Wiethe disease
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