Chanarin-Dorfman syndrome with rare renal involvement

Br J Dermatol. 2017 Feb;176(2):545-548. doi: 10.1111/bjd.15156. Epub 2017 Jan 29.

Authors

S B Verma¹, A Mittal², U Wollina³, G H Eckstein⁴, K Gohel⁵, K Giehl⁴

Affiliations

¹ Department of Dermatology, Nirvana Skin Clinic, Vadodara, Gujarat, India.
² Department of Dermatology, RNT Medical College, Udaipur, Rajasthan, India.
³ Department of Dermatology and Allergology, Academic Teaching Hospital, Dresden, Germany.
⁴ Institute of Human Genetics, Helmholtz Zentrum, München, Germany.
⁵ Department of Nephrology, Muljibhai Patel Urology Hospital, Nadiad, Gujarat, India.

PMID: 27858988
DOI: 10.1111/bjd.15156

No abstract available

Publication types

Case Reports
Letter

MeSH terms

1-Acylglycerol-3-Phosphate O-Acyltransferase / genetics
Adolescent
Dermatitis, Exfoliative / etiology
Humans
Ichthyosiform Erythroderma, Congenital / complications*
Kidney Diseases / etiology*
Lipid Metabolism, Inborn Errors / complications*
Male
Muscular Diseases / complications*
Mutation, Missense / genetics
Pedigree
Proteinuria / etiology

Substances

1-Acylglycerol-3-Phosphate O-Acyltransferase
ABHD5 protein, human

Supplementary concepts

Chanarin-Dorfman Syndrome