Assessment of melanin distribution in epidermolysis bullosa simplex with mottled pigmentation: A case report

Exon 8 deletion of KRT5 in epidermolysis bullosa simplex with mottled pigmentation: A case report

“…There was a marked difference in the distribution of melanosomes in both pigmented and non-pigmented regions, but previous studies have demonstrated densities of melanocytes remained unchanged in both regions. 4 We speculated that abnormal keratin 5, coupled with inflammatory stimuli from blisters, may interfere with uptake and transport of melanosomes and result in an uneven distribution of melanosomes, leading to the typical mottled pigmentation pattern.…”