EPIDERMOLYSIS BULLOSA SIMPLEX WITH MOTTLED PIGMENTATION

By Gary M. White, MD


Epidermolysis bullosa simplex with mottled pigmentation (EBS-MP) is a subtype of epidermolysis bullosa simplex characterized by generalized blistering with mottled or reticulate brown pigmentation.

Clinical

There is mild generalized skin fragility and acral blistering that improves with age. Mottle pigmentation develops on the trunk and proximal extremities.

References

A 7-year-old boy presented with a history of “blisters and bumps” on his hands and feet that first appeared when he was 6 months old. Around the same time that the blisters appeared, the child also developed mottled pigmentation on his trunk and extremities. Dermatology Online Journal

A woman developed acral blistering starting at age 1 and mottled pigmentation of the trunk and proximal extremities starting at age 10. A mutation in the gene EXPH5 was found. [JAMA Derm 2016;152;1137].

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