Papillon lefevre syndrome

Introduction

Papillon Lefevre syndrome[1] is an autosomal recessive condition characterised by periodontosis, palmoplantar hyperkeratosis and calcification of falx cerebri and tentorium cerebelli. Periodontosis and early falling of deciduous teeth are noted by four years of age.

Palmoplantar hyperkeratosis begins in infancy as an erythematous thickened scaly lesion extending on the dorsal surface of fingers and toes.

Etretinate, isotretinoin and acitretin have successful role in improving the cutaneous eruption and lessening the gingival inflammation.

Case Report

A 38-year-old Hindu female patient presented with palmoplantar keratoderma and hyperkeratotic lesions at angle of mouth since early childhood. She also had history of premature fall of deciduous teeth since the age of 2½ years. She also had loss of permanent teeth. Clinical examination revealed diffuse hyperkeratosis of palms and soles extending on dorsal surface of finger and toes [Figure - 1]. Upper incisor teeth were widly spaced and conical, while lower incisors were missing. There was also loss of some of the molars and premolars [Figure - 2]. X-ray mandible revealed floating in air appearance due to diffuse alveolar rarefication.

Discussion

Premature falling of deciduous and permanent teeth, palmoplantar keratoderma and typical picture of X-ray mandible clinches the diagnosis of Papillon Lefevere syndrome.