Year : 2007 | Volume
: 18 | Issue : 4 | Page : 210--213
Papillon-Lefevre syndrome: Two case reports
Jigna Shah, Shweta Goel
Department of Oral Medicine and Radiology, G.D.C.H, Ahmedabad, Gujarat - 380 016, India
Department of Oral Medicine and Radiology, G.D.C.H, Ahmedabad, Gujarat - 380 016
Papillon-Lefevre syndrome is a rare autosomal recessive disorder in which there is palmoplantar keratinization and premature loss of both deciduous and permanent teeth. The palmoplantar keratoderma typically has its onset between the ages of 1 and 4 years and severe periodontitis starts at the age of 3 or 4 years. An early diagnosis of the syndrome can help preserve the teeth by early institution of treatment, using a multidisciplinary approach. We present two cases of the syndrome having all of the characteristic features.
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Shah J, Goel S. Papillon-Lefevre syndrome: Two case reports.Indian J Dent Res 2007;18:210-213
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Shah J, Goel S. Papillon-Lefevre syndrome: Two case reports. Indian J Dent Res [serial online] 2007 [cited 2022 Nov 27 ];18:210-213
Available from: https://www.ijdr.in/text.asp?2007/18/4/210/35834
Papillon-Lefevre syndrome (PLS) is a rare autosomal recessive disorder of keratinization, characterized by palmoplantar hyperkeratosis, periodontopathy and precocious loss of dentition. It was first described in 1924 by two French physicians, Papillion and Lefevre. ,
The palmoplantar keratoderma typically has its onset between the ages of 1 and 4 years. The sharply demarcated, erythematous keratotic plaques involve the entire surface of the palms and soles, sometimes extending onto the dorsal surface of the hands and feet. The lesions are punctate and diffuse, with dry scaly skin and vary in thickness from one to several millimeters. There may be associated hyperhidrosis of the palms and soles, which may cause a foul smell. These psoriasiform plaques may also be seen on the elbows and knees. The symptoms may worsen in winter and be associated with painful fissures. The keratosis of the plantar surface extends to the edges of the soles and occasionally onto the skin overlying the Achilles tendon and the external malleoli. Other sites that may be affected include the eyelids, cheeks, labial commissures, legs, thighs and axillae. The hair is usually normal but the nails, in advanced cases, may show transverse grooving and fissuring. Histopathologic examination reveals nonspecific hyperkeratosis, acanthosis, focal parakeratosis, psoriasiform hyperplasia, tortuous capillaries in dermal papillae and superficial lymphocytic infiltration. ,,
The second major feature of PLS, severe periodontitis, starts at the age of 3 or 4 years. The development and eruption of the deciduous teeth proceeds normally, but their eruption is associated with severe gingival inflammation in the absence of any local etiologic factor. The gingiva is bright red, edematous and bleeds easily. The periodontal pockets rapidly deepen, with severe loss of alveolar bone and marked fetor exoris. The resulting periodontitis is characteristically unresponsive to traditional treatment modalities. Although gingival inflammation and alveolar resorption is usually so severe that the alveolar process is completely destroyed, even during the most active phase of periodontal destruction, the rest of the oral mucous membrane is reported to be completely normal. Primary dentition is usually exfoliated prematurely by the age of 4 years. After exfoliation, the inflammation subsides and the gingiva appears healthy. With the eruption of permanent dentition, the whole process of gingivitis and periodontitis is repeated and there is subsequent premature exfoliation of the permanent teeth by the age of 13-16 years. Later, the third molars also undergo the same fate. Severe resorption of alveolar bone gives the teeth a 'floating-in-air' appearance on dental radiographs. ,,
In addition to the dermatologic and oral findings, patients may have decreased neutrophil, lymphocyte or monocyte functions and an increased susceptibility to bacterial infection, leading to recurrent pyogenic infections of the skin. Pyogenic liver abscess is a complication of PLS and is associated with impairment of the immune system.  Another feature of PLS is the presence of radiographic evidence of intracranial calcification in the choroid plexus and tentorium. ,, Although the results of laboratory tests in patients with this syndrome are all essentially within normal limits, they are nonetheless particularly valuable in distinguishing this syndrome from other conditions causing gingival inflammation and early loss of the deciduous and/or permanent teeth, such as leukocyte imbalances (neutropenia and leukemia), mercury and radiation toxicities, acatalasia, hypophosphatasia, Hand-Schuller-Christian disease, Letterer-Siwe disease and the periodontitis of juvenile diabetes and periodontosis. ,
A multidisciplinary approach is necessary in the management of patients with PLS. The skin manifestions are treated with emollients; salicylic acid and urea may be added to enhance the effect. Oral retinoids, including acitretin, etretinate and isotretionin, are the mainstay of treatment for both keratoderma and periodontitis. , The periodontal disease may be arrested by improving oral hygiene, extraction of severely diseased teeth, scaling, systemic antibiotics and long-term antimicrobial irrigation.  The use of implants could considerably enhance future therapeutic options for severely dentally compromised patients. ,
A 13-year-old male patient presented with the chief complaint of exfoliation of teeth since 3-4 years. The past dental history revealed that his deciduous teeth had erupted normally, but exfoliated gradually by the age of 4-6 years. Similarly, his permanent teeth too were lost prematurely after having erupted normally. At the age of 1 year his parents had noticed the presence of rough skin on the plantar surface of his feet, with subsequent involvement of the palmar surface of the hands by the age of 2-3 years. There was no family history of similar complaints. The lesions became worse during winters, with fissuring and bleeding from the fissures.
On examination, there were symmetrical, well-demarcated, keratotic and confluent plaques affecting the skin of the palms and soles, which extended to the dorsal surface of the finger joints [Figure 1],[Figure 2]. The skin was dry and rough on palpation. The hair and nails appeared normal. On intraoral examination it was found that patient's central incisors, mandibular lateral incisors, maxillary first premolars and all permanent first molars were missing [Figure 3],[Figure 4]. Mobility was present in all the permanent teeth that were present. The gingiva in relation to the still existing permanent teeth was red, soft and edematous, with deep periodontal pockets and bleeding on probing. Despite the severity of the periodontal involvement, no local factors (plaque and calculus) were present. The mucosa of the edentulous region was normal. OPG of the patient showed severe alveolar bone loss in relation to the existing permanent teeth up to the level of apical third of roots, giving the teeth a 'floating in air' appearance [Figure 5]. The skull X-ray was normal [Figure 6]. The skin lesions were treated by emollients and salicylic acid and the patient was prescribed antioxidants. Extraction of the teeth that had severe mobility, with subsequent prosthesis construction, was advised.
A 16-year-old female patient reported with the chief complaint of exfoliation of teeth. Her past dental history revealed that her deciduous teeth had erupted normally, but there had been early shedding, starting at age of 3 years and complete shedding of all deciduous teeth by the age of 6 years. There had been normal eruption of all permanent teeth, but gradually her teeth had started becoming mobile and this was followed by exfoliation of the teeth. When she was 3 years old, her parents had noticed thickening of the skin of her hands and feet. Since then there had been a gradually increasing involvement of the palmar and plantar surfaces, with increased fissuring, bleeding and pus discharge. These symptoms were worse during the winter season. Her family history was unremarkable, with her siblings being normal.
Cutaneous examination revealed increased keratinization of the skin of the palmar and plantar surfaces, as well as the skin over the dorsal surfaces of the joints of the hands; the keratinized skin was clearly demarcated from adjacent normal skin [Figure 7],[Figure 8]. Deep fissures were present on the soles of her feet. Her nails and hair were normal. On intraoral examination, the patient was found to be completely edentulous in the maxillary left quadrant. In the other quadrants, the permanent teeth that were missing were the first molars, the lateral incisors, the right maxillary and left mandibular first premolar, the right mandibular second premolar and the left mandibular canine [Figure 9],[Figure 10]. All the permanent teeth that were present exhibited marked mobility. The gingiva adjacent to the teeth appeared red, inflamed and edematous, with deep periodontal pockets from which there was bleeding. Gingival recession was present in all teeth. The mucosa of the edentulous area appeared normal. OPG showed severe alveolar bone loss up to the apical third region of the roots of all the permanent teeth that were present, giving them the characteristic 'floating-teeth' appearance [Figure 11]. Since all the teeth in this patient were severely involved, complete extraction with complete denture construction was advised. However, the patient did not come for follow-up.
PLS is a disorder of keratinization that is inherited in an autosomal recessive fashion. It is characterized by thickening of the skin of the palms and soles and is associated with periodontosis and frequent pyogenic skin infections. The onset of symptoms is between 1 and 4 years of age. In both of our cases, the skin and periodontal findings bore a striking resemblance to the classical descriptions of the syndrome. The skin lesions in these patients appeared in the first and second decades of life. These lesions worsened during the winter season, with deepening of fissures, bleeding and pyogenic infection. The dental history of the patients was also in accordance with the known symptoms of the syndrome, i.e, early exfoliation of all deciduous teeth commencing at 3 years of age, with complete exfoliation within 2-3 years.
Clinically, both the patients had the characteristic skin lesions: sharply demarcated keratotic plaques involving the entire surface of the palms and soles. The lesions were diffuse, with a dry, scaly surface; they varied in thickness and were rough on palpation. The hair and nails appeared normal in both the cases. Intraoral findings were remarkable in both cases, with the characteristic features of periodontosis, as has been described for PLS. Both patients had multiple permanent teeth missing. The permanent teeth that were present exhibited marked mobility, with all the signs and symptoms of gingival inflammation (such as redness and edema and deepening of periodontal pockets that bled on probing) but without evidence of local factors. Radiographs (OPG) of both patients showed extensive alveolar bone loss up to the level of the apical third of the roots of almost all the permanent teeth that were present, giving the teeth a 'floating-in-air' appearance. All these dental findings and the skin lesions are consistent with the characteristic features of PLS.
A multitude of etiologic factors appear to be involved in the causation of PLS. It has been reported to be due to mutation of the cathepsin-C gene, which is expressed in the commonly affected epithelial regions such as the palms, soles and knees and the keratinized oral gingiva. It is also expressed at high levels in various immune cells, including polymorphonuclear leukocytes, macrophages and their precursors.  The exact cause of periodontal disease in PLS has not been found, but it has been attributed to decreased neutrophil phagocytosis, bacterial infection and impaired reactivity to T- and B-cell mitogens.  Actinomyces actinomycetemcomitans, causing periodontal damage and alterations in the polymorphonuclear leukocyte functions, have been postulated as being a probable pathogenic mechanism. Gingival infection, abscess formation, loss of alveolar bone and destruction of periodontal ligament are probably the causative factors responsible for the shedding of teeth. ,,,
The skin manifestations of PLS are treated with emollients, with salicylic acid and urea added to enhance the effect. Oral retinoids including acitretin, etretinate and isotretinoin are the mainstay of treatment of both the keratoderma and the periodontitis associated with PLS. Normal dentition is observed with retinoids only when they are given before the onset of eruption of permanent teeth at 5 years of age. Treatment is more beneficial if it is started during the eruption and maintained during the development, of the permanent teeth. Frequent periodontal cleaning oral hygiene instruction and antibiotic therapy can, at best, only delay the shedding of teeth. Early extraction of teeth has also been advocated to prevent bone loss and allow preservation of a solid base for subsequent use in artificial dentures. , Hence, we suggest that if parents notice keratotic plaques on the palms or plantar surfaces of the feet of their child, they should consult a dermatologist. Histological examination of the lesions will enable an early diagnosis of PLS so that early treatment can be instituted with retinoids, which can prevent the development of more skin lesions and modulate the course of periodontitis and, thus, preserve the teeth.
We report two cases of the PLS with all the characteristic features of the syndrome. The dentist is usually the first member of the health team to see this interesting and challenging diagnostic problem and must differentiate it from other entities on the basis of the unique dermatologic findings and the absence of other symptoms. A diagnosis of the syndrome by the dentist at an early age, i.e, before the eruption of permanent teeth, can help preserve the teeth by institution of early treatment with retinoids. Even if the patient comes at a later stage, the dental surgeon can institute prompt periodontal treatment to preserve disease-free teeth, with early extraction of diseased teeth to prevent alveolar bone loss, preserving it for prosthesis or future implants.
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