Papillon-Lefèvre syndrome and squamous cell carcinoma: a case report

Sammy Al-Benna,Lars Steinstraesser,Ingo Stricker,Hans-Ulrich Steinau,Raphael Hasler

doi:10.4076/1757-1626-2-7067

Abstract

Papillon-Lefèvre syndrome is a rare autosomal recessive genodermatosis characterised by palmoplantar hyperkeratosis and severe early-onset periodontitis. The development of malignant cutaneous neoplasms within the hyperkeratotic lesions of the syndrome is very rare. Here, we report on a 67-year-old German Caucasian male with Papillon-Lefèvre syndrome associated with recurrent squamous cell carcinoma. Treatment is symptomatic and not always satisfactory.

Highlights

Papillon-Lefèvre syndrome (PLS) is a relatively rare autosomal recessive disorder
Papillon-Lefèvre syndrome is a rare autosomal recessive genodermatosis characterised by palmoplantar hyperkeratosis and severe early-onset periodontitis
No published report describing the development of nonmelanoma skin cancer within the hyperkeratotic lesions of the syndrome has been reported in the literature, suggesting that this association is very rare

Summary

Introduction

Papillon-Lefèvre syndrome (PLS) is a relatively rare autosomal recessive disorder. The 2 cardinal diagnostic features of the syndrome are palmoplantar keratosis and an early-onset form of aggressive periodontitis [1]. Case presentation A 67-year-old German Caucasian male previously diagnosed with PLS was referred to our clinic complaining of a new lesion in his left palm. He was completely edentulous from the age of 15 years. Cutaneous lesions became markedly evident at the age of 1 year, in which the skin of the palms and soles was red, thickened, and painful and he had severe palmoplantar hyperkeratosis. A tissue biopsy confirmed the diagnosis of SCC in his left palm He initially refused surgical treatment due to his perception of further loss of function and pianoplaying potential in a hand, which already had a prior amputation of the ipsilateral thumb at the level of the metacarpophalangeal joint nine years previously due to osteomyelitis.

Discussion

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