Erythrokeratoderma variabilis‐like ichthyosis in Chanarin–Dorfman syndrome

• Published in: British journal of dermatology (1951) Vol. 153; no. 4; pp. 838 - 841
• Main Authors: Pujol, R.M., Gilaberte, M., Toll, A., Florensa, L., Lloreta, J., González‐Enseñat, M.A., Fischer, J., Azon, A.
• Format: Journal Article
• Language: English
• Published: Oxford, UK Blackwell Science Ltd 01-10-2005; Blackwell; Oxford University Press
• Subjects: 1-Acylglycerol-3-Phosphate O-Acyltransferase; ABHD5; Biological and medical sciences; Chanarin–Dorfman syndrome; Child, Preschool; Dermatology; Dyskeratosis; erythrokeratoderma variabilis; Esterases - genetics; fatty liver; Humans; Ichthyosiform Erythroderma, Congenital - genetics; Ichthyosiform Erythroderma, Congenital - pathology; ichthyosis; Lipase - genetics; Lipid Metabolism, Inborn Errors - genetics; Lipid Metabolism, Inborn Errors - pathology; Male; Medical sciences; Mutation; neutral lipids; Syndrome; Vacuoles - pathology; Human; Dyskeratosis; Skin disease; Dermatology; Liver; Hyperkeratosis; Metabolic diseases; ABHD5; fully liver; Genetic disease; Ichthyosis; Neutral lipid; Storage disease; Case study; Dorfman chanarin syndrome; Non bullous ichtyosiform erythroderma; Chanarin-Dorfman syndrome; Child; Erythrokeratoderma variabilis; neutral lipids
• ISSN: 0007-0963; 1365-2133
• DOI: 10.1111/j.1365-2133.2005.06828.x

Summary
Neutral lipid storage disease (Chanarin–Dorfman syndrome) is an autosomal recessive metabolic disorder associated with congenital ichthyosis and a multisystemic accumulation of neutral lipids (lipid droplets) in various types of cells. The clinical presentation has been reported to correspond to that of nonbullous congenital ichthyosiform erythroderma. We report a 4‐year‐old boy presenting a generalized ichthyosiform disorder manifested by migrating scaly plaques alternating with areas of normal‐looking skin, showing erythematous borders with sharp margins, clinically suggestive of erythrokeratoderma variabilis (EKV). A peripheral blood smear revealed cytoplasmic vacuoles in most granulocytes. Genetic studies from the patient and his parents revealed that the patient carried two different and novel mutations of the ABHD5 gene: a nonsense mutation in exon 6 (transmitted by the father) and an insertion/deletion in exon 4 (transmitted by the mother). Our observation demonstrates the clinical heterogeneity of the ichthyosiform dermatoses observed in Chanarin–Dorfman syndrome and widens the clinical range of conditions presenting migrating scaly plaques mimicking EKV.