Papillon-Lefèvre syndrome

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Abstract

A 44-year-old Filipino woman was referred to the Jose R. Reyes Memorial Medical Center because of painful palmoplantar keratodermas of 35 years' duration. Her teeth began erupting at 1 year of age, but during her third year of life, her parents noted gingival bleeding and swelling, with the subsequent exfoliation of all deciduous teeth. During the ensuing years, the patient suffered similar losses of all permanent teeth, followed by gum healing. The patient is the fourth of seven children from a nonconsanguineous marriage, and no family member was recalled as having had a similar condition. Gestational and perinatal histories were uneventful.

Physical examination of the skin showed symmetrical, well-demarcated, rough, thick, compact, yellowish keratoderma involving the soles (Fig. 1), and scaling of the finger pads. There was hypohidrosis with a fetid odor, and marked varicosities on both lower extremities. Symmetric, erythematous, scaly plaques were noted on the elbows. The nails of all the fingers, and of some of the toes, were convex, and some terminal phalanges were claw-like. Hair growth was normal. Oral examination revealed the complete absence of teeth (Fig. 2).

An incision biopsy was taken from the sole. The epidermis was hyperplastic with a thick parakeratotic stratum corneum. The dermis was not seen. Radiological examinations of the skull and jaw disclosed no ectopic foci of calcification. A panoramic view of the mouth confirmed atrophy of the alveolar bone with remarkable resorption. X-Rays of the feet showed osteoporosis. Complete blood cell count, urinalysis, liver function tests, serum creatinine, blood urea nitrogen, and serum lipid profiles were all within normal ranges.

Oral etretinate at 1 mg/kg/day (40 mg/day) was given for 9 days, causing the lesions on the palms, soles, and elbows to improve gradually, with marked reduction in size noted after 2 weeks. The dose was tapered to 0.75 mg/kg/day (30 mg/day) for 20 days, which produced smooth, slightly pinkish skin on what was previously an erythematous, hyperkeratotic area. Nearly complete healing of the palmoplantar and extraplantar lesions was observed after 3 weeks. The patient discontinued medication due to financial reasons, and the lesions on the soles slowly recurred within 2 months, after which the patient was lost to follow-up.

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