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Journal of Dermatology and Dermatologic Surgery
Article . 2019 . Peer-reviewed
Data sources: Crossref
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Journal of Dermatology and Dermatologic Surgery
Article
License: CC BY NC SA
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Epidermolysis Bullosa Simplex-Dowling–Meara Mimicking Epidermolysis Bullosa Simplex with Mottled Pigmentation

Authors: Wei-Liang Koh; Yong-Kwang Tay;

Epidermolysis Bullosa Simplex-Dowling–Meara Mimicking Epidermolysis Bullosa Simplex with Mottled Pigmentation

Abstract

Abstract 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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Keywords

epidermolysis bullosa simplex-dowling–meara, RL1-803, mottled hyperpigmentation, Dermatology, epidermolysis bullosa simplex with mottled pigmentation

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selected citations
These citations are derived from selected sources.
This is an alternative to the "Influence" indicator, which also reflects the overall/total impact of an article in the research community at large, based on the underlying citation network (diachronically).
BIP!Citations provided by BIP!
popularity
This indicator reflects the "current" impact/attention (the "hype") of an article in the research community at large, based on the underlying citation network.
BIP!Popularity provided by BIP!
influence
This indicator reflects the overall/total impact of an article in the research community at large, based on the underlying citation network (diachronically).
BIP!Influence provided by BIP!
impulse
This indicator reflects the initial momentum of an article directly after its publication, based on the underlying citation network.
BIP!Impulse provided by BIP!
0
Average
Average
Average
gold