Dorfman-Chanarin syndrome (neutral lipid storage disease). A case report

J Bañuls; I Betlloch; R Botella; A Sevila; A Morell; P Román

doi:10.1111/j.1365-2230.1994.tb02705.x

Dorfman-Chanarin syndrome (neutral lipid storage disease). A case report

Clin Exp Dermatol. 1994 Sep;19(5):434-7. doi: 10.1111/j.1365-2230.1994.tb02705.x.

Authors

J Bañuls¹, I Betlloch, R Botella, A Sevila, A Morell, P Román

Affiliation

¹ Department of Dermatology, Alicante General Hospital, Spain.

PMID: 7955510
DOI: 10.1111/j.1365-2230.1994.tb02705.x

Abstract

We describe the case of a woman from a small town in the south of Spain, with consanguineous parents, who presented with the complete syndrome. The main clinicopathological characteristics are discussed.

Publication types

Case Reports

MeSH terms

Consanguinity
Female
Humans
Ichthyosiform Erythroderma, Congenital / pathology*
Keratinocytes / pathology
Lipid Metabolism, Inborn Errors / pathology*
Middle Aged
Syndrome
Vacuoles / pathology