Gottron's syndrome

Introduction

Gottron′s syndrome or Symmetrical Progressive Erythrokeratoderma is an extremely rare cornification disorder inherited as an autosomal dominant trait with variable penetrance. It was first described by Darier in 1911 though it is named after Gottron′s article in 1922.[2] More than two dozen cases have been reported worldwide but there is only one case report from India so far.[3]

Case Report

An 18 - year - old boy, a native of Nepal presented with asymptomatic scaly lesions on the extremities since early childhood. Dermatological examination revealed erythematous hyperkeratotic plaques symmetrically distributed on the extremities and gluteal region. The lesions were well demarcated with polycyclic borders and had non-adherent fine scaling. He had diffuse erythematous palmoplantar keratoderma, sharply marginated over the wrists and ankles. No abnormality of hair, nails or mucous membrane was present. There was no significant musculoskeletal or ocular abnormality.

The patient′s history revealed that he first developed thickening and scaling of palms and soles at about the age of six years. The other lesions appeared insidiously over the next few years increasing in size and number and remained static thereafter. There was no family history of similar skin eruptions.

Routine biochemical and hematological parameters were normal. Skin biopsy revealed hyperkeratosis, regular acanthosis and a well preserved granular layer. There was mild vasodilatation and perivascular mononuclear infiltrate in the dermis.

Discussion

Gottron′s syndrome is a rare erythrokeratoderma characterised by large, fixed, geographic and symmetrical fine scaly erythematous plaques distributed over knees, elbows, hands and feet. Onset is in early childhood, progresses over the next few years and then remains stable over time with morphology, colour and site remaining constant.[4] Differential diagnoses include pityriasis rubra pilaris and psoriasis. Histopathology is essentially psoriasiform-hyperkeratosis with focal parakeratosis and well preserved granular layer. There is no suprapapillary thinning of the epidermis or Munro′s microabscesses.[5]

Our case had a typical onset of presentation, clinical features and histopathology. Palmoplantar keratoses which has been found in half the cases, was present in our patient. No association with other disorders was identified. Treatment of the patient with oral Vit A, urea, salicylic acid and other keratolytics was unsuccessful.