Papillon-Lefevre syndrome with pseudoainhum.

An interesting episode of Papillon-Lefevre syndrome in a 25-year-old female with diffuse palmoplantar keratoderma, periodontitis and pseudoainhum of the toes is reported for academic interest. Her skin lesions improved with topical keratolytics and oral retinoid (acitretin) whereas periodontic problems showed significant improvement with systemic antibiotics and proper implementation of oral hygienic measures. She is undergoing oral rehabilitation with orthodontic surgical procedures.

INTRODUCTION

Papillon-Lefevre Syndrome (PLS) is a rare autosomal recessive disorder of keratinization characterized by palmoplantar keratoderma (PPK), periodontitis and a tendency to recurrent pyogenic skin and systemic infections. It was originally described in 1924 by two French physicians, Papillon and Lefevre.[1] We report an interesting episode of PLS in a young female.

CASE REPORT

A 25-year-old female presented with the complaints of thickening of skin over palms and soles and recurrent episodes of swollen gums with premature loss of teeth since her childhood. She is the second of the five siblings born after a full-term normal delivery to consanguineous parents. None of her family members had similar problems except her elder sister.

Dermatological examination of the patient revealed diffuse, symmetric, yellowish, PPK with adherent scales, fissuring of the skin and dental abnormalities. [Figures 1 and 2]. Hyperkeratotic, well-demarcated, linear, asymptomatic plaques extending onto the dorsal surface of the hands and feet (transgrediens) were present with flexion deformity of the digits and ainhum like digital constrictions around the 4th toe of right foot and 2nd and 4th toes of left foot [Figure 3]. Intraoral examination revealed that her lower central incisors were missing and most of the remaining teeth were loose with grade 3 mobility. Gross periodontitis with swollen, thickened, bleeding gums and deep periodontal pockets were noted on probing.

Figure 1

Symmetric, diffuse, yellowish, keratoderma with scaling and fissuring over the palms

Figure 2

PLS patient with characteristic palmar keratoderma and dental abnormalities

Figure 3

Linear, keratotic plaques on the dorsum of the feet with constrictions over the toes

Hematological investigations revealed leucocytosis (TLC 12,300/mm3) and neutrophilia (absolute neutrophil count: 8,500/mm3). Biochemical profile including liver function tests and lipid profile were within normal limits. Bacterial cultures of the samples taken from subgingival pockets were positive for Actinobacillus actinomycetocomitans, Porphyromonas gingivalis and Escherichia coli. Histopathological examination of the skin over palmar surface revealed parakeratotic hyperkeratosis, hypergranulosis, regular acanthosis, and a dense perivascular lymphohistiocytic infiltrate. Orthopentomogram (OPG) revealed floating-in-air appearance with generalized horizontal bone loss up to middle-third of the roots of all teeth and vertical bone loss up to apical one-third of upper left 2nd premolar, lower right 1st and 2nd molars [Figure 4]. X-ray of hands and feet showed partial resorption of terminal phalanges and periarticular osteopenia with soft tissue swelling whereas, X-ray skull revealed no calcification. Ultrasound of abdomen was normal. Audiometric examination was within normal limits.

Figure 4

OPG of PLS patient showing dental abnormalities with characteristic ‘floating- in- air appearance’

Based on the above findings, a diagnosis of PLS was made and the patient was advised conventional periodontal therapy including oral hygiene instructions, systemic antibiotics to control infection, and oral acitretin tablets 25 mg once daily with topical 12% salicylic acid combination of urea ointment for her skin lesions. After completing 3 months of therapy, her skin lesions and periodontitis improved significantly. At present, she is undergoing orthodontic management and oral rehabilitation for her dental problems including dental clips for protruding anterior teeth and implants for missing teeth, as advised by the periodontist.

DISCUSSION

PLS is an uncommon hereditary disorder of keratinization characterized by a triad of PPK, periodontitis with premature loss of teeth and a tendency for frequent pyogenic infections. Many interesting case reports of this disorder have been published from different parts of the world from time to time, with various associations such as liver abscess, ectopic intracranial calcification, hyperhidrosis, hypertension, hyperglycemia, thyroid enlargement, osteoporosis and congenital hydrocele, etc.[2]

The diagnosis of PLS was made in our patient based on the presence of characteristic clinical and radiological features. She had typical PPK with transgradiens, periodontitis with loss of permanent incisor teeth, marked mobility and extensive alveolar bone loss giving the teeth a ′floating-in-air′ appearance on OPG. PPK is a feature of several heterogenous group of diseases: however, the association of PPK and premature periodontitis occurs only in PLS and Haim Munk syndrome . Both these entities can be distinguished based on the fact that a number of additional findings occur in HMS like onychogryphosis, arachnodactyly, acral osteolysis and pes planus, etc.[3]

Another interesting feature in our patient is the occurrence of ainhum-like digital constrictions (pseudoainhum) over the toes. As far as ascertained, there has been only a single report of this feature occurring in patients of PLS,[4] although pseudoainhum has been known to occur in association with other hereditary PPKs such as Unna-Thost, Vohwinkel, Mal de Meleda, etc and also several acquired diseases like scleroderma, leprosy, tertiary syphilis, diabetes mellitus, Raynaud's disease, etc.

Lack of phenotypic expression of the disease in her consanguineous parents and a family history of similar problem in her elder sister confers an autosomal recessive pattern of inheritance in our patient. Recent studies on PLS patients mapped the major gene locus on chromosome 11q 14 with mutation of the Cathepsin C gene[5] .The exact mechanism of the periodontal disease and increased susceptibility to infections in PLS patients is not clear, but it is attributed to the dysfunction in neutrophil motility to bacterial infection. Studies have pointed out an immunologically mediated gingival cementoblast disruption and recurrent gingival infections with organisms like A. actinomycetocomitans, Fusobacterium nucleatum, and Bacteroides gracilis as the cause of periodontitis.[6] Similar organisms were isolated in our patient associated chronic periodontitis resulting in loss of alveolar bone and shedding of teeth responsible for ‘floating-in-air’ appearance on OPG. Recurrent pyogenic infections skin and liver abscess are recognized in PLS;[7] however, this feature was not seen our patient.

A multidisciplinary approach is essential for the management of PLS patients. Topical medications with keratolytics, likes salicylic acid and urea combination and oral retinoids such as acitretin are the mainstay in the treatment of keratoderma associated with PLS. This point has been further substantiated with the significant improvement of the condition noted in our patient. Proper oral hygiene and systemic antibiotics for infection can delay the progress of periodontitis and shedding of teeth. Treatment with oral retinoids is more beneficial in the prevention of teeth destruction if started early during eruption and maintained during development of the permanent teeth.[8] Further, oral rehabilitation with newer orthodontic procedures such as implants, will certainly improve the cosmetic appearance as well as the quality of life in patients of PLS.