Dyschromatosis universalis hereditaria: a familial case with ultrastructural skin investigation

ABCB6 Resides in Melanosomes and Regulates Early Steps of Melanogenesis Required for PMEL Amyloid Matrix Formation

“…Lesions show a focal increase or decrease in melanin and melanosome content of melanocytes and keratinocytes of the basal layer, which is believed to be the consequence of a defect in melanosome production and/or distribution, rather than a disorder of melanocyte numbers 42,46,47 . Several associated conditions have been reported, including ocular abnormalities, photosensitivity, neurosensory hearing defects, mental retardation and erythrocyte, platelet and tryptophan metabolism abnormalities 48 . Although the role of environmental factors cannot be excluded, at present it is not clear if these conditions represent a single disease entity, especially because DUH patients with ABCB6 mutations do not exhibit any of the additional abnormalities.…”

Inherited Reticulate Pigmentary Disorders

“…DUH was first report reported by Ichikawa and Hiraga in 1933 [ 13 ]. Dyschromatosis universalis hereditaria (DUH) is characterized by mottled hyperpigmented and hypopigmented macules of irregular size and shape distributed randomly all over the body [ 24 ] ( Figure 1 ). DUH has been reported in East Asia, including China, Japan, Taiwan, and India [ 15 , 24 , 25 , 26 ].…”

“…Dyschromatosis universalis hereditaria (DUH) is characterized by mottled hyperpigmented and hypopigmented macules of irregular size and shape distributed randomly all over the body [ 24 ] ( Figure 1 ). DUH has been reported in East Asia, including China, Japan, Taiwan, and India [ 15 , 24 , 25 , 26 ]. DUH typically manifests during infancy or early childhood, emerges after puberty, and endures through one’s lifetime without remarkable alterations in color and distribution [ 27 ].…”

“…Additionally, certain studies have presented findings indicating increased apoptosis in the basal cell layer, where KRT14 is expressed, upon ultrastructural examination of affected skin. This suggests that apoptosis plays a significant role in the development of DPR, providing evidence for its pathogenesis [ 24 ]. It is noteworthy that both NFJS and DPR are autosomal dominant ectodermal dysplasia syndromes due to mutations of KRT14 but have different clusters of symptoms and signs, implying variations between genotypes and phenotypes.…”

“…hypopigmented macules of irregular size and shape distributed randomly all over the body [24] (Figure 1). DUH has been reported in East Asia, including China, Japan, Taiwan, and India [15,[24][25][26].…”