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CASE REPORT
Year : 2019  |  Volume : 23  |  Issue : 2  |  Page : 106-108

Epidermolysis bullosa Simplex-Dowling–Meara mimicking epidermolysis bullosa simplex with mottled pigmentation


Department of Dermatology, Changi General Hospital, Singapore

Correspondence Address:
Dr. Wei-Liang Koh
Department of Dermatology, Changi General Hospital, 2 Simei Street 3, Singapore 529889
Singapore
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Source of Support: None, Conflict of Interest: None


DOI: 10.4103/jdds.jdds_31_19

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Epidermolysis bullosa simplex-Dowling–Meara (EBS-DM) variant is an autosomal dominant blistering genodermatosis due to mutations in genes coding for keratin 5 (K5) or keratin 14 (K14), specifically at the rod domain. Postinflammatory dyspigmentation can arise at sites of blistering, sometimes in a reticulate or mottled configuration. This mimics EBS with mottled pigmentation (EBS-MP), usually due to mutation in the head domain of K5, for which the pigmentation is not preceded by blisters. We report a case of an adult Malay male with recurrent blisters and mottled hyperpigmentation over his trunk and limbs, consistent with EBS-DM clinically, and confirmed on genetic mutation sequencing. Different K5 or K14 mutations, by altering keratinocyte adhesion and interfering with melanin pigment transport, can lead to variable phenotypes of skin fragility and/or hyperpigmentation, possibly modulated by other genetic or environmental factors.


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