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Differentiation, Maintenance, and Analysis of Human Retinal Pigment Epithelium Cells: A Disease-in-a-dish Model for BEST1 Mutations

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Dyschromatosis universalis hereditaria.

R Rai¹, I Kaur, S Handa

¹Department of Dermatology, Venereology & Leprology, Postgraduate Institute of Medical Education & Research, Chandigarh - 160 012, India.

Indian Journal of Dermatology, Venereology and Leprology

|September 30, 2010

Summary

This summary is machine-generated.

Dyschromatosis universalis hereditaria, a common disorder in Japan, was identified in an Indian woman. This case highlights the condition

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Area of Science:

Dermatology
Medical Genetics

Background:

Dyschromatosis universalis hereditaria (DUH) is a rare genetic disorder characterized by widespread, symmetrical, hyperpigmented and hypopigmented macules.
While prevalent in Japan, DUH has been reported globally with varying frequencies.

Purpose of the Study:

To report a rare case of Dyschromatosis universalis hereditaria in an Indian woman.
To discuss the genetic and clinical implications of DUH in a diverse population.

Main Methods:

Clinical examination of the patient.
Review of existing literature on Dyschromatosis universalis hereditaria.

Main Results:

A case of Dyschromatosis universalis hereditaria was diagnosed in an Indian woman.
The patient had no family history of the disorder, suggesting a possible spontaneous mutation or incomplete penetrance.

Conclusions:

Dyschromatosis universalis hereditaria can occur in individuals without a family history.
This case expands the known geographical and familial distribution of DUH.