Papillon - Lefevre syndrome in two brothers

Introduction

Papillon- Lefevre syndrome is an inherited disorder of keratinization.[1] The syndrome is characterized by palmo -plantar hyperkeratosis associated with periodontosis leading to early loss of both deciduous and permanent teeth. Hyperkeratotic lesion may extend to knees and elbows.[2] The onset of symptoms are between 1 and 4 years of age. Other associations are frequent pyogenic infection and intracranial calcification.

Case Report

Case 1A 7- year-old boy presented with thickening of palms and soles since the age of 6 months. There was no history of consanguinous marriage of parents. His parents noticed gradual loosening and fall of teeth both deciduous and permanent. Thickening of palms and soles was gradually increasing, and there was thickening of knees and elbows since 2 years. There was no history of repeated skin infections.

Cutaneous examination revealed palmo-plantar keratoderma which extended to the sides of hands and feet [Figure - 1]. There was similar but milder changes seen on elbows and knees. Intro oral examination showed loss of deciduous and 2 of the permanent teeth. A few teeth were loose, likely to fall down in due course of time [Figure - 2]. The gingiva in relation to these teeth was red, soft and oedematous. Rest of the cutaneous and systemic examination was unremarkable. Skull x-ray revealed no abnormality.

Case 2This patient aged 4½ years younger brother of case no 1 showed similar palmoplantar keratoderma with transgradience, along with changes on knees and elbows. He also had loss of deciduous teeth. Skull radiograph did not reveal dural calcification.

Discussion

Papillon - Lefevre syndrome is an inherited disorder of keratinization which is probably inherited as an autosomal recessive fashion.[1] It is generally characterized by redness and thickening of palms and soles, associated with periodontosis and tendency to frequent pyogenic skin infection. In our patients there was no history of consanguinity and both the siblings had the syndrome. Lesions started at the age of 6 months in both siblings, which has been well described.[3] Hyperkeratotic changes of knees and elbows are not commonly seen in this syndrome. Recurrent pyogenic infection, dural calcification, hepatosplenomegaly and congenital hydrocele were not found in both the patients, which are inconsistent manifestations describedfearlier.[1],[2],[4]