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© 2001 European Academy of Dermatology and Venereology

CAS E REPO R T

JEADV

(2001)

15

, 48–50

Blackwell Science, Ltd

Atypical familial Papillon–Lefèvre syndrome

H Serhat

Inalöz,†‡* M

Harman,§ S

Akdeniz,§ SS

Inalöz,¶ A Gulden

Isik**

†

Department of Dermatology, University of Wales College of Medicine, Cardiff, UK,

‡

Departments of Dermatology, and

¶

Histology and Embryology,

University of Gaziantep Faculty of Medicine, Gaziantep, Turkey,

§

Department of Dermatology, Dicle University Medical Faculty, Diyarbakir, Turkey,

**

Department of Periodontology, Istanbul University Dental Faculty, Istanbul, Turkey.

*

Corresponding author, Department of Dermatology, University

of Gaziantep Faculty of Medicine, Tıp Fakültesi Dekanlı4

ı, Kilis Yolu Üzeri, 27310 Gaziantep, Turkey, fax +90 342 3601617; +90 342 3601013;

E-mail: serhatinaloz@hotmail.com

ABSTRACT

The Papillon–Lefèvre syndrome is a rare autosomal recessive disorder. Consanguinity seems a notableprerequisite. Papillon–Lefèvre syndrome manifests in the first 6 months of life with rapidly progressiveperiodontitis and severe alveolar bone destruction leading to early loss of both the deciduous and permanentteeth in association with palmo-plantar hyperkeratosis. We present two unusual cases of familial Papillon–Lefèvre syndrome, one of whom has only late onset of mild skin lesions and the other has severe skinlesions and relatively mild periodontal disease. A number of other cases recently described have also hadatypical features.

Key words:

hyperkeratosis

,

Papillon–Lefèvre syndrome

,

periodontitis

,

psoriasiform lesions

,

retinoids

Received: 2 October 1999, accepted 18 July 2000

Introduction

Papillon–Lefèvre syndrome (PLS) is characterized by the

presence of both palmoplantar hyperkeratosis and severe

early-onset periodontitis that results in premature loss of

primary and permanent teeth. The disease occurs infrequently

with a prevalence of 1–4 per million in the general population.

PLS is considered to be transmitted as an autosomal recessive

trait and parental consanguinity has been noted in one-third

of cases studied.

1

To date, approximately 300 cases have been

reported and nearly half of the cases were familial.

Case reports

Case 1

A 14-year-old boy presented with slightly itchy hyperkeratosis

on palms and soles that had progressed on to the posterior

aspect of his ankle. The skin lesions were first observed

10 years before with mild hyperkeratosis involving on the

elbows, knees, palms and soles. The skin lesions had persisted

ever since and became more problematic 4 years before

presentation to us. The boy also had periodontal problems but

without loss of teeth. His medical history revealed no previous

serious illness and he was of normal intelligence. He was born

to a marriage between first cousins and one of his five siblings

has had a late-onset palmoplantar hyperkeratosis.

Skin examination revealed bilateral, symmetrical and well-

demarcated hyperkeratotic plaques on the palms and soles,

with erythema and fissuring on the soles (fig. 1). Symmetrical

psoriasiform lesions were noticed on knees and elbows.

Dental history indicated normal eruption and exfoliation of

the primary teeth along with the normal eruption of the per-

fig. 1 Bilateral, symmetrical and well-demarcated hyperkeratosis on soles

which had progressed onto the posterior aspect of his ankle.

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Atypical familial Papillon–Lefèvre syndrome

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© 2001 European Academy of Dermatology and Venereology

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, 48–50

manent dentition. Intraoral examination revealed a bright red,

inflamed and swollen gingiva associated with heavy plaque

and calculus accumulation but there was no premature loss of

permanent teeth (fig. 2).

Radiological screen was compatible with the chronological

age of our patient. Posterior–anterior skull radiographs showed

no evidence of ectopic intracranial calcification of the falx

cerebri, duramater and choroid plexus. Routine haematological

investigations, including polymorphonuclear (PMN) count

and urinalysis, were within normal limits.

A diagnosis of PLS was made after dermatological and dental

examinations. Oral retinoid treatment was started and the

patient’s skin condition has remained well-controlled with

low-dose intermittent acitretin therapy (10 mg/day).

Case 2

The 16-year-old brother of case 1 also presented at the age of

14 years with ‘thickening and scaling of the palms and soles’.

Clinical examination showed hyperkeratotic plaques on the

dorsum of hands and feet. The remainder of the examination

revealed no other medical disorders. On dental examination,

there was no conspicuous clinical periodontal finding. He was

of normal intelligence. He had never suffered from increased

susceptibility to infection and had no history of periodontal

disease.

A radiological examination of the skull and jaw revealed

no ectopic calcification or alveolar bone atrophy. Routine

haematological and urine investigations were within

normal limits. His skin condition is also under controlled

with low-dose intermittent acitretin therapy at a dosage of

10 mg/day.

Discussion

The clinical presentation of PLS can be variable. Patients can

have psoriasiform lesions on the knees and elbows and are at

increased susceptibility to infection. A number of neurological

complications have also been described and patients may have

intracranial calcification of the falx cerebri or choroid plexus

and develop mental retardation. The cutaneous lesions on the

palms and soles usually manifest when the periodontal lesions

develop in the first year. In most cases the onset of the

cutaneous lesion occurs between the ages of 6 months and

4 years coinciding with the eruption of the primary teeth.

However, the first case of late-onset periodontal disease

with early-onset palmoplantar keratoderma was reported in

1985.

2

Since then, there has been an increase in the number of

atypical PLS cases in the literature that do not fit the classical

disease descriptions.

3,4

We also observed two unusual cases of

familial PLS, one of whom had only late onset of mild skin

lesions and the other has severe skin lesions and relatively

mild periodontal disease. Genetic heterogeneity may explain

the late-onset variation of this syndrome.

In a group study faulty collagen formation has been

suggested as the cause of the tooth loss in PLS.

5

Moreover,

increased collagen synthesis by gingival fibroblasts derived

from a PLS patient has been observed.

6

Overall, the hereditary

defect may lead to an acroectodermal problem that is primarily

observed in the mouth and palmoplantar region. This

morphological alteration leads to immunological impairment

that results in altered host response in susceptible individuals.

Impaired PMN activity has been shown in early-onset PLS

patients,

7

involving mainly chemotactic and phagocytic activity

as well as reduced production of superoxide radicals that are

essential for PMN cells to kill

Staphylococcus aureus

.

Retinoid administration has been suggested to be the most

effective treatment for the skin condition in PLS.

8–10

Moreover,

abnormal keratins found in PLS have been recovered from

skin following the normalization of lesions with oral retinoid

therapy.

9

Furthermore, retinoid therapy was also found to

improve not only the keratodermas, but also the pyodermas

on both keratotic and non-keratotic skin in PLS.

10

Our cases

also highlight the good response to treatment with systemic

retinoids and the late-onset manifestations of PLS.

References

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fig. 2 Bright red, inflamed and swollen gingiva associated with heavy

plaque and calculus accumulation.

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