Papillon–Lefevre Syndrome with PyogenicHepatic Abscess: A Rare Association

Sujay Khandpur, M.D., D.N.B., and Belum Siva Nagi Reddy, M.D., M.N.A.M.S.

Department of Dermatology and Venereology, Maulana Azad Medical College and Associated Lok NayakHospital, New Delhi

Abstract: Papillon–Lefe`vre syndrome in a 14-year-old boy presentingwith palmoplantar keratoderma, periodontosis, recurrent pyogenic infec-tions of the skin, and hepatic abscesses is reported for its rarity andunusual manifestations. The patient showed a dramatic response to ac-itretin therapy.

Papillon–Lefevre syndrome (PLS) is a rare autosomalrecessive disorder, originally described by Papillon andLefevre in 1924 (1). The disease classically manifestswith the triad of palmoplantar keratoderma, periodonto-sis, and frequent pyogenic infections. More than 250cases of this unusual genodermatosis have been pub-lished from different parts of the world, with variousassociations including calcification of the falx cerebri,choroid plexus and dura mater, thumb nail dystrophy,hyperhidrosis, hypertension, hyperglycemia, thyroid en-largement, osteoporosis, and congenital hydrocele (2–4).Few occurrences of the disorder have been reported fromthe Indian subcontinent. The association of recurrent he-patic abscesses with PLS is extremely rare, and so faronly two instances of this interesting combination havebeen documented in the literature (5,6).

We report PLS in two siblings with recurrent pyo-genic liver abscesses in the male sibling. To the best ofour knowledge, this is the first report of this associationfrom India.

CASE REPORT

A 14-year-old boy had hyperkeratosis of the palms andsoles since 1 year of age that gradually extended to thedorsae of his hands and feet. He complained of hyper-hidrosis over these areas. He had a history of painful

swelling of the gums with foul-smelling pockets of puscausing loss of his primary teeth by 4–5 years of age andpermanent dentition by 14 years. He developed multipleboils over the face, some of which subsided with scarformation. In the past 2 years, he also had three episodesof high fever with chills and rigors, and right hypochon-drial pain referred to the shoulder. No history of seizuresor delayed milestones was present. His parents were un-affected by the disease and were nonconsanguineous.

On dermatologic examination he had diffuse palmo-plantar keratoderma with transgrediens to the dorsae ofthe hands and feet (Fig. 1). Both the upper and lowercentral and lateral incisors and second premolars wereabsent. The gingivae were edematous and inflamed (Fig.2). Atrophic scars were present on the face. Depressedscars produced by repeated drainage of the hepatic ab-scesses were seen in the right hypochondrium (Fig. 3).Abdominal examination revealed right hypochondrial ri-gidity and hepatomegaly.

Hematologic and biochemical investigations werewithin normal limits except for neutrophilia (absoluteneutrophil count of 8500/mm3), leukocytosis (TLC13,400/mm3), and a deranged liver function test. Histo-pathologic examination of the hyperkeratotic palmar skinrevealed parakeratotic hyperkeratosis, hypergranulosis,regular acanthosis, and a dense perivascular lymphohis-tiocytic infiltrate. Orthopentogram showed hypodontia,

Address correspondence to Sujay Khandpur, M.D., 59, S.F.S., HauzKhas Apartments, New Delhi 110016, India.

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alveolar bone resorption, mesioangular impaction of bi-lateral lower second premolars and a “floating in air”appearance of the upper lateral incisors (Fig. 4). A lon-gitudinal sonogram of the liver demonstrated a complex

mass with hypoechoic and hyperechoic regions in theposterior right lobe suggestive of pyogenic liver abscess.Surgical drainage yielded pus.

The patient’s 8-year-old sister also had features ofPLS including palmoplantar keratoderma, periodontosiswith hypodontia, and recurrent pyodermas, but withoutany evidence of hepatic abscesses. Both siblings weregiven acitretin (1 mg/kg/day) along with broad-spectrumantibiotics. For the hepatic abscesses, repeated ultra-sound-guided surgical drainages were performed. Dra-matic improvement in the palmoplantar keratoderma wasnoticed in both children after 4 weeks. The dose of ac-itretin was gradually tapered to 0.75 mg/kg/day and then0.5 mg/kg/day. Dental prosthesis was advised for theirhypodontia.

DISCUSSION

PLS is an unusual genodermatosis with an incidence of1–4 per million (1). A recent study has detected a can-didate gene for PLS in 11q14-q21 (7).

Figure 1. (A) Diffuse palmar keratoderma. (B) Plantarkeratoderma in a transgrediens pattern.

Figure 2. Gingivitis with hypodontia.

Figure 3. Scars at drainage sites of hepatic abscess.

Figure 4. Orthopentogram shows dental abnormalities.

46 Pediatric Dermatology Vol. 18 No. 1 January/February 2001

In our study, both the patients presented with the clas-sical clinical triad of this disorder. Periodontosis thatcauses premature loss of both deciduous and permanentdentition in PLS is an important feature differentiating itfrom several other palmoplantar ectodermal dysplasias.Various studies indicate an immunologically mediatedgingival cementoblast disruption and recurrent gingivalinfections by organisms likeActinobacillus actinomyce-tocomitans, Fusobacterium nucleatum, andBacteroidesgracilis (8) as the cause of hypodontia. This clinical find-ing was also noted in our patients.

Approximately 17% of the patients with PLS are pre-disposed to pyogenic skin infections as a result of re-duced polymorphonuclear chemotaxis and phagocytosis(9), abnormal T- and B-cell function, and a higher ex-pression of natural killer cells (10). Both the siblings inour study had multiple episodes of pyodermas, some ofwhich subsided with scar formation.

In addition to these features, the male sibling alsosuffered from recurrent pyogenic liver abscesses.Oguskurt and Tanyal (5) reported two cases of pyogenicliver abscess in association with PLS and suggested ahematogenous spread of gingival infection to the liver inpredisposed individuals as a cause of this interesting as-sociation. However, the patient reported by Tosti et al.(6) developed liver abscesses following etretinatetherapy for palmoplantar keratoderma. They postulatedthat retinoids inhibit neutrophil chemotaxis, thereby pre-cipitating severe infections such as hepatic abscess inpatients with PLS. Our patient, on the other hand, pre-sented with liver abscesses prior to retinoid therapy.

Treatment of this disorder is multidisciplinary, includ-ing dental management and rehabilitation in the form ofroot planing and dental prosthesis. Oral retinoids have

been found to be useful in treating palmoplantar kerato-dermas and periodontosis (11). Both our patients showeda dramatic response to acitretin therapy with no adverseeffects.

REFERENCES

1. Ohkawara A, Miura Y, Sapporo JI. Papillon–Lefe`vre syn-drome. Arch Dermatol 1974;109:726–728.

2. Haim S, Munk J. Keratosis palmo-plantaris congenita withperiodontosis, arachnodactyly and peculiar deformity ofthe terminal phalanges. Br J Dermatol 1965;77:42–54.

3. Griffiths WAD, Leigh IM, Marks R. Disorders of kerati-nization. In: Champion RH, Burton JL, Ebling FJG, eds.Textbook of dermatology, 5th ed. Oxford: Blackwell Sci-entific, 1992:1377–1379.

4. Zeligman I. Palmar and plantar hyperkeratosis. In: DemisDJ, Dobson RL, McGuire J, eds. Clinical dermatology.Hangerstown: Harper & Row Publishers, 1980.

5. Oguskurt P, Tanyal FC. Increased risk of pyogenic liverabscess in children with Papillon–Lefe`vre syndrome. J Pe-diatr Surg 1996;31:955–956.

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7. Hart TC, Bowden DW, Ghaffar KA, et al. Sublocalizationof the Papillon–Lefe`vre syndrome locus on 11q14-q21.Am J Med Genet 1998;79:134–139.

8. Clerehugh V, Drucker DB, Seymour SJ, Bird PS. Micro-biologic and serologic investigations of oral lesions in Pap-illon–Lefevre syndrome. J Clin Pathol 1996;49:255–257.

9. Firatli E, Turan B, Efeuglir A. Analysis of neutrophil che-motaxis. J Periodontol 1996;67:617–620.

10. Firatli E, Surel N, Efeuglir A. Clinical and immunologicfindings in 2 siblings with Papillon–Lefe`vre syndrome. JPeriodontol 1996;67:1210–1215.

11. Kressin S, Herforth A, Preis S. Papillon–Lefe`vre syn-drome—successful treatment with a combination of reti-noid and concurrent systematic periodontal therapy: casereport. Quintessence Int 1995;26:795–803.

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