Papillon-Lefevre syndrome: a case report of two siblings and review of the literature.
Papillon-LefAvre syndrome is a rare autosomal recessive genodermatosis which is characterised by periodontitis palmoplantar keratoderma and predisposition to pyogenic infections and occurs due to cathepsin C gene mutation (located on chromosome11).The loss of primary teeth usually occurs by the age of 4 years and secondary teeth by second decade. The disorder is associated with significant cosmetic and functional disability.
Papillon-LefAvre syndrome periodontitis palmoplantar keratoderma.
Papillon-LefAvre syndrome is an extremely rare genodermatosis inherited as an autosomal recessive trait affecting children between the ages 1-4 years. It has a prevalence of 1-4 cases per one million. Males and females are equally affected and there is no racial predominance. The disorder is characterized by periodontosis resulting in severe gingivitis in children which leads to the loss of teeth by the age of 4-5 years unless treated. Permanent teeth may be lost in the same fashion. Transient palmoplantar keratoderma is an associated feature. The treatment is supportive and consists of retinoids in combination with antibiotics and dental care lessening the gingival inflammation and saving the teeth. Here we report the report the case of Papillon- LefAvre syndrome in two siblings and briefly review the literature.
A 21-year-old male student by occupation referred by a dental practitioner presented with chief complaints of thickening of skin of palms and soles since birth and loosening of teeth since the age of 5years.The skin lesions started as small localised areas of rough thick skin over the palms and gradually progressed to involve almost whole of the palms and similar lesions then appeared over the soles after an approximate period of 6-8months.There was history of aggravation of these lesions in winter months with increased roughening of the skin and painful fissuring. The patient gave history of pain during walking and difficulty in performing daily routine activities with hands. The patient also gave history of loosening of teeth since the age of 5 years. However there was no history of loss of teeth. The patient also gave history of similar skin and oral lesions in her elder sister. There was history of loss of both deciduous and permanent teeth in her which were replaced with artificial dentures.
There was history of consanguineous marriage. There was no other significant medical or surgical history.
On examination there were multiple bilaterally symmetrical yellowish hyperkeratotic plaques covered with adherent scales over the palms and soles (Figures 1 and 2). There were few hyperkeratotic plaques over the dorsa of both hands. Oral examination revealed multiple loose carious teeth especially the central incisors (Figure 3) canines and premolars. The teeth were abnormally mobile on manipulation. The gingivae in relation to teeth were soft and erythematous. The hair and nails were normal.
All the routine investigations were within normal limits. Biopsy of the skin lesions was performed which was consistent with keratoderma (Figure 4).
Papillon-LefAvre syndrome first described by two French physicians Papillon and LefAvre in 1924 is an extremely rare genodermatosis inherited as an autosomal recessive trait affecting children between the ages 1-4 years.
It has a prevalence of 1-4 cases per one million. Males and females are equally affected and there is no racial predominance.12
The disorder is characterized by periodontosis resulting in severe gingivitis in children which leads to the loss of teeth by the age of 4-5 years unless treated. Permanent teeth may be lost in the same fashion. Transient palmoplantar keratoderma preceded by erythema appears in the first year of life and spreads to the dorsal aspects and up the Achilles tendon. Psoriasiform plaques on the elbows and knees may be present but in a survey of 47 patients cutaneous involvement was not related to the severity of periodontal disease and did not correlate with the age.34
Virulent Gram negative organisms invade the alveolar socket usually including Actinobacillus actinomycetemcomitans. Frequent pyogenic infections of the skin and internal organs occur. Associated hyperhidrosis causes an unpleasant odour. The hair is usually normal but may be sparse. Dural calcification especially in the attachment of tentorium and choroid has been noted in some cases. Malignant melanoma has been reported as a complication.
Neutrophil phagocytosis and reactivity to T and B cell mitogens are impaired. Inheritance is autosomal recessive and the condition is characterised by homozygous mutation in the gene encoding the lysosomal protein cathepsin C. This finding explains the predisposition to pyogenic infections but the mechanism of keratoderma is not established.7
Histopathological changes are non-specific but shows hyperkeratosis with irregular parakeratosis and a moderate perivascular infiltrate. Electron microscopic findings include lipid-like vacuoles in the corneocytes and granulocytes reduction in tonofilaments and irregular keratohyalin granules. The treatment consists of retinoids in combination with antibiotics and dental care lessening the gingival inflammation and saving the teeth.8
1. Haneke E. The Papillon-LefAvre syndrome: Keratosis palmoplantaris with periodontopathy. Hum Genet. 1979;51:1-35.
2. Hart TC Shapira L. Papillon-LefAvre syndrome. Periodontol. 2000. 1994;6:88-100.
3. Gorlin RJ Sedano H Anderson VE. The syndrome of palmar-plantar hyperkeratosis and premature periodontal destruction of the teeth. J Pediatr. 1964;65:895-908.
4. Bach JN Levan NE. Papillon-LefAvre syndrome. Arch Dermatol. 1968;97:154-8.
5. Ullbro C Crossner CG Nederfors T et al. Dermatologic and oral findings in a cohort of 47 patients with Papillon-LefAvre syndrome. J Am Acad Dermatol. 2003;48:345-51.
6. Levoy Wollnier S Hachem-Zadeh S. Immunological study of patients with Papillon-LefAvre syndrome. Clin Exp Immunol. 1980;40:407-10.
7. Djawezi D. Deficient phagocytic function in Papillon-LefAvre syndrome. Clin Exp Immunol. 1980;40:407-10.
8. Siragusa M Romano C Batticane N et al. A new family with Papillon-LefAvre syndrome: effectiveness of etretinate treatment. Cutis. 2000;65:151-5.
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|Author:||Sajad, Peerzada; Hassan, Iffat; Imtiyaz, Syed|
|Publication:||Journal of Pakistan Association of Dermatologists|
|Date:||Mar 31, 2014|
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