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Sjögren-Larsson syndrome

Author: Dr Maneka Gnanasegaram, Dermatology Registrar, Christchurch, New Zealand, 2010.

Introduction

Sjögren-Larsson syndrome is a rare inherited disorder affecting the skin and nervous system of variable severity.

The most common symptoms and signs are:

What is the cause of Sjögren-Larsson syndrome?

Sjögren-Larsson syndrome is caused by an inborn error of metabolism resulting in the deficiency of an enzyme, fatty aldehyde dehydrogenase (FALDH), which is needed to produce normal oils and fats in the body. Deficient oxidation of medium and long chain fatty aldehydes into fatty acids results in abnormal fats in the skin and nervous system.

Sjögren-Larsson syndrome has an autosomal recessive inheritance; that is, affected individuals have two abnormal genes, one from each parent.The responsible gene is the ALDH3A2 gene found on chromosome 17, which encodes FALDH. Over 70 mutations in this gene resulting in this disorder have been identified.

Clinical features of Sjogren-Lasson syndrome

Skin

Neurological

Other

Alteration of posture and gait leads to:

Diagnosis of Sjögren-Larsson syndrome

The diagnosis of Sjogren-Larsson syndrome is usually made clinically. It may be confirmed in some centres by measurement of fatty aldehyde dehydrogenase in white blood cells or cultured fibroblasts collected by skin biopsy.

Known gene mutations can now be identified in some centres.

Management of Sjögren-Larsson syndrome

Management should be multidisciplinary with input from speech language therapy, physiotherapy, occupational therapy, dermatology, neurology, ophthalmology and orthopaedic services.

Skin hydration is important so emollients and moisturisers should be applied to dry skin regularly. Topical keratolytics such as urea and lactic acid (see fruit acids) can reduce scale and skin thickening. New products specifically aimed at the treatment of Sjögren-Larsson syndrome are under investigation.

Severe ichthyosis is sometimes treated with systemic retinoids such as acitretin or isotretinoin.

Related information

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