Filaggrin gene mutations in hand eczema patients in the Indian subcontinent: A prospective case‐control study

Background

There are no Indian studies on the association between filaggrin mutations and any dermatosis, including hand eczema.

Objectives

To determine the prevalence of filaggrin mutations in Indian hand eczema patients and examine associations between such mutation and any etiologic type of hand eczema.

Materials and Methods

A total of 163 patients and 86 controls were included. Patients were categorized into etiologic subtypes of hand eczema, filaggrin polymorphisms (S2889X, 2282del4, R501X and Q2417X) determined in patients and controls and correlated with subtypes.

Results

The prevalence of filaggrin mutations was 33.7% in cases and 3.5% in controls. Mutations in S2889X constituted 96.4% of all filaggrin mutations. No carrier of R501X and Q2417X mutations was identified. Among 55 patients with mutations, irritant contact dermatitis (ICD) with or without atopy was found in 22 patients, allergic contact dermatitis (ACD) with or without atopy in 12 and idiopathic in 12 cases. There was a significant association of filaggrin mutations with ICD with or without atopy, ACD without atopy and idiopathic subtypes. Filaggrin mutations were associated with more severe hand eczema.

Conclusions

S2889X mutation is commoner in patients than controls. Filaggrin gene polymorphisms are associated with specific subtypes of hand eczema and severe disease.

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