NON-HERLITZ JUNCTIONAL EPIDERMOLYSIS BULLOSA - THE IMPORTANCE OF PRENATAL DIAGNOSIS

  • Leonor Lopes Interna do Internato Complementar de Dermatologia/Resident, Dermatology and Venereology, Serviço de Dermatologia e Venereologia, Centro Hospitalar Lisboa Norte, Portugal; Professor Doutor do Serviço de Dermatologia e Venereologia/Professor of Dermatology and Venereology, Serviço de Dermatologia e Venereologia do Centro Hospitalar Lisboa Norte/Dermatology and Venereology Department of Centro Hospitalar Lisboa Norte, Portugal
  • Paulo Leal Filipe Professor Doutor do Serviço de Dermatologia e Venereologia/Professor of Dermatology and Venereology, Serviço de Dermatologia e Venereologia do Centro Hospitalar Lisboa Norte/Dermatology and Venereology Department of Centro Hospitalar Lisboa Norte, Portugal
  • Ana Berta Sousa Serviço de Genética do Centro Hospitalar Lisboa Norte/Genetics Department of Centro Hospitalar Lisboa Norte, Portugal
  • Maria João Lages Serviço de Neonatologia do Hospital Dona Estefânia/Neonatology Department of Dona Estefânia Hospital, Lisboa, Portugal
  • Fernanda Dinis Serviço de Pediatria do Centro Hospitalar do Divino Espírito Santo/Pediatric Department of Hospital do Espírito Santo, Évora, Portugal
  • Carolina Gouveia Professor Doutor do Serviço de Dermatologia e Venereologia/Professor of Dermatology and Venereology, Serviço de Dermatologia e Venereologia do Centro Hospitalar Lisboa Norte/Dermatology and Venereology Department of Centro Hospitalar Lisboa Norte, Portugal
Keywords: Epidermolysis bullosa, junctional, Infant, Prenatal diagnosis

Abstract

Junctional epidermolysis bullosa is a group of inherited blistering diseases characterized by increased skin fragility, blisters and erosions after minor trauma, due to tissue cleavage at the dermal-epidermal junction. We report the case of a male Caucasian infant, born with erosions and tense blisters on the hands, abdomen and scalp. Immunoflurescence antigen mapping revealed paucity of collagen XVII immunolabelling, compatible with the diagnosis of non-Herlitz junctional epidermolysis bullosa. Molecular analysis of the COL17A1 gene revealed compound heterozygosity for two frameshift mutations. Family history was positive for a brother with a bullous dermatosis, who died from sepsis on the 3rd week of life without a definitive diagnosis that could enable precise risk estimation and prenatal diagnosis. We emphasize the importance of rapid referral to specialized centers, to provide early accurate diagnosis, adequate clinical management and prenatal diagnosis in subsequent pregnancies.

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How to Cite
Lopes, L., Leal Filipe, P., Sousa, A. B., Lages, M. J., Dinis, F., & Gouveia, C. (1). NON-HERLITZ JUNCTIONAL EPIDERMOLYSIS BULLOSA - THE IMPORTANCE OF PRENATAL DIAGNOSIS. Journal of the Portuguese Society of Dermatology and Venereology, 72(4), 553-557. https://doi.org/10.29021/spdv.72.4.327
Section
Case Reports