facebook
eISSN: 2084-9893
ISSN: 0033-2526
Dermatology Review/Przegląd Dermatologiczny
Current issue Archive Manuscripts accepted About the journal Special Issues Editorial board Abstracting and indexing Subscription Contact Instructions for authors Ethical standards and procedures
Editorial System
Submit your Manuscript
SCImago Journal & Country Rank
Search
Editorial Policies
Sarajevo Declaration on Integrity and Visibility of Scholarly Publications

Open access

without publication fees
5/2019
vol. 106
 
Share:
Send email
Share:
abstract:
Case report

Lipoid proteinosis: different clinical features in two siblings

Katarzyna Łuczak
1
,
Elżbieta Wojtowicz-Prus
1
,
Robert Śmigiel
2
,
Katarzyna Wertheim-Tysarowska
3
,
Sylwia Radomska
3
,
Jacek Podolski
4
,
Jolanta Węgłowska
1

  1. Department of Dermatology with Pediatric Dermatology Unit, Provincial Specialist Hospital, Wroclaw, Poland
  2. Department of Propaeudetics of Pediatrics and Rare Diseases, Chair of Pediatrics, Medical University of Wroclaw, Poland
  3. Department of Medical Genetics, Institute of Mother and Child, Warsaw, Poland
  4. NZOZ Meditest, Szczecin, Poland
Dermatol Rev/Przegl Dermatol 2019, 106, 538-544
DOI: https://doi.org/10.5114/dr.2019.90002
Online publish date: 2019/12/06
View full text Get citation
 
PlumX metrics:
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
FEATURED PRODUCTS
BOOKS
• Atopowe Zapalenie Skóry • Alergologia – kompendium


Indeks osobowy
Termedia
About us Contact
Copyright notice Privacy policy Advertising policy Contact us
Quick links
Journals Books eBooks Events
© 2024 Termedia Sp. z o.o.
Developed by Bentus.