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Case Reports
. 2021 Nov 25:19:97-99.
doi: 10.1016/j.jdcr.2021.11.017. eCollection 2022 Jan.

A novel mutation in ABCB6 associated with dyschromatosis universalis hereditaria in a Saudi family

Sara Aldokhayel  1 , Alballa Nouf  1 , Aleedan Khalid  2 , Alsaif Faisal  2 , Alotaibi Maram  3 , Alhumidi Ahmed  4 , Alsaif Fahad  1
Affiliations
Case Reports

A novel mutation in ABCB6 associated with dyschromatosis universalis hereditaria in a Saudi family

Sara Aldokhayel et al. JAAD Case Rep. .
No abstract available

Keywords: DUH, dychromatosis universalis heredetaria; dyschromatosis; genetic diseases; hyperpigmented; hypopigmented; melanosomes.

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Conflict of interest statement

None disclosed.

Figures

Fig 1
Fig 1
A, Photomicrograph from hypopigmented area revealing a marked decrease in melanin pigmentation in the basal layer; mild hyperkeratosis is also noted (hematoxylin-eosin stain; original magnification: ×200). B, Photomicrograph from the hyperpigmented area revealing a marked increase in melanin pigmentation in the basal layer (hematoxylin-eosin stain; original magnification: ×200).
Fig 2
Fig 2
Diffuse hyperpigmented and hypopigmented macules with a mottled appearance over the abdomen and back.
Fig 3
Fig 3
Diffuse hyperpigmented and hypopigmented macules with a mottled appearance over the abdomen.
See this image and copyright information in PMC

References

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    1. Sethuraman G., Srinivas C.R., D'Souza M., Thappa D.M., Smiles L. Dyschromatosis universalis hereditaria. Clin Exp Dermatol. 2002;27(6):477–479. doi: 10.1046/j.1365-2230.2002.01129.x. - DOI - PubMed
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    1. Zhang C., Li D., Zhang J., et al. Mutations in ABCB6 cause dyschromatosis universalis hereditaria. J Invest Dermatol. 2013;133(9):2221–2228. doi: 10.1038/jid.2013.145. - DOI - PubMed

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