papillon–lefèvre syndrome mimicking psoriasis – a rare case report

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    i n d i a n j o u r n a l o f d e n t i s t r y 4 ( 2 0 1 3 ) 2 1 1e2 1 4Available online at wjournal homepage: www.elsevier .com/locate/ i jdCase ReportPapilloneLefevre syndrome mimicking psoriasis eA rare case reportK. Ramesh a,*, Maya Ramesh b, Karthik Venkataraghavan c

    a Professor Department of Pedodontics & Preventive Dentistry, VMSDC, Salem, IndiabReader, Department of Oral Pathology VMSDC, Salem, IndiacProfessor & HOD, College of Dental Sciences, Ahmadabad, Gujarat, indiaa r t i c l e i n f o

    Article history:

    Received 1 March 2012

    Accepted 16 May 2013


    PapilloneLefevre syndrome



    Psoriasis* Corresponding author. 144, Andal Street, T9791842343 (mobile).

    E-mail address: (K0975-962X/$ e see front matter 2013 India b s t r a c t

    PapilloneLefevre syndrome is a rare disease characterized by skin lesions caused by palmar-

    plantar hyperkeratosis and severe periodontal destruction involving both the primary and

    permanent dentitions. It is transmitted as an autosomal recessive condition and consan-

    guinity of parents is evident in about one third of the cases. This paper reports a unique case

    of a patient with PapilloneLefevre syndrome (PLS) that was earlier mistaken for psoriasis.

    The examination revealed severe hyperkeratosis on the hands and feet with associated se-

    vere periodontal conditions. The patient was diagnosed with PapilloneLefevre syndrome

    and suitable treatment was initiated.

    2013 Indian Journal of Dentistry. All rights reserved.1. Introduction and to the volar wrists. Involvement of the soles extends toPapilloneLefevre syndrome (PLS) was first described in the

    literature by Papillon and Lefevre in 1924. More than 200 cases

    have been reported till today. The syndrome is a rare auto-

    somal recessive trait with an incidence between one and four

    persons per million. 20e40% of the cases show parental con-

    sanguinity.1 No gender predilection is detected till date.2

    PapilloneLefevre syndrome is characterized by palmar-

    plantar hyperkeratosis, and rapid destruction of the alveolar

    bone and periodontium of both the primary and permanent

    dentitions, commencing at the time of tooth eruption. Skin

    lesions usually present from 6 months to 3 years of age,

    approximating the time of tooth eruption. These may start as

    diffuse red and scaly patches on the palms of the hands and

    soles of the feet. Lesions are well demarcated and predomi-

    nantly affect the palms extending to the thenar eminenceshirumal Nagar, Alagapur

    . Ramesh).n Journal of Dentistry. Althe Achilles tendon. There can be occasional involvement of

    the eyelids, cheeks, labial commissures, knees, elbows,

    thighs, externalmalleoli, toes and dorsal fingers. The soles are

    frequently affected more severely than the other regions,

    which makes walking difficult.1,2 Periodontal effects appear

    almost immediately after tooth eruption when gingivae

    become erythematous and edematous. Plaque accumulate in

    the deep crevices and halitosis can be present. The primary

    incisors are usually affected first and display marked mobility

    by the age of 3 years. By the age of 4e5 years, all the primary

    teeth are exfoliated and the gingival health comes back to

    normal. But the same process is repeated as the permanent

    dentition starts to erupt.1 Themajority of the permanent teeth

    are lost by the age of 14e15. There is dramatic alveolar bone

    destruction, often resulting in atrophied jaws.2 The case

    described below is of a 4-year-old girl served to illustrate theam, Salem, Tamil Nadu 636004, India. Tel.: 91 427 2444886, 91

    l rights reserved.


  • i n d i a n j o u rn a l o f d e n t i s t r y 4 ( 2 0 1 3 ) 2 1 1e2 1 4212periodontal effects of PapilloneLefevre syndrome on the pri-

    mary dentition.Fig. 2 e Hyperkeratosis of the soles of the feet.2. Case report

    A 4-year-old girl reported to the dental clinic with a chief

    complaint of loose teeth and discomfort while eating. On

    clinical examination all anterior teeth were mobile & skin le-

    sions were present.

    Family history revealed a consanguineous marriage of the

    parents (first cousins), neither ofwhomappeared affected. The

    mother reported that the skin lesions started appearing by the

    end of one year after birth. They had presumed this to be pso-

    riasis & started treatment but did not achieve the desired re-

    sults. The patient was referred by a practitioner for a thorough

    examination, proper diagnosis and treatment of the condition.

    Extra oral examination revealed hyperkeratosis of the palms of

    the hands, soles of the feet and the knees (Figs. 1 and 2).

    Intraoral examination revealed that all the primary teeth were

    present. Oral hygiene was poor. The upper and the lower an-

    teriors showed plaque accumulation, gingival recession, juve-

    nile periodontitis and mobility (Figs. 3 and 4). Periodontal

    abscesses were seen associated with the lower right and left

    first and second primary molars (Figs. 5 and 6). Radiographic

    examination (orthopantomogram) confirmed the presence of

    generalized destruction of the alveolar bone around the pri-

    mary dentition with generalized horizontal bone loss. Tooth

    buds of permanent teeth were seen below the deciduous teeth

    (Fig. 7). From the presenting conditions, a diagnosis was made

    of PapilloneLefevre syndrome. Because of the severe peri-

    odontal destruction, periodontal treatment was initiated. The

    patientwasput undermedications andwas recalled for scaling

    and curettage. The patient is currently kept under periodic re-

    view to initiate suitable treatment at an appropriate time.3. Discussion

    PapilloneLefevre syndrome is evident in 1e4 persons per

    million population and the disease carriers are thought to be

    2e4 per thousand persons.3 In most cases, dermatologicFig. 1 e Hyperkeratosis of the palms of the hand.manifestations become evident in the first three years of life.

    Some patients describe worsening of the symptoms in winter

    mimicking the manifestations of psoriasis.

    The oral manifestations consist of advanced periodontitis

    involving both deciduous and permanent dentitions and

    develop soon after the eruption of teeth. A rapid loss of

    attachment is seen with the teeth lacking osseous support.

    Radiographically teeth appear to float in soft tissues. Without

    aggressive therapy, loss of teeth is inevitable. Alveolarmucosa

    becomes normal when teeth are absent. Aggregatibacter acti-

    nomycetemcomitans has been related to the periodontal

    destruction. Although a hereditary component and leukocyteFig. 3 e Plaque accumulation and gingival recession in

    upper anteriors.

  • Fig. 4 e Plaque accumulation and gingival recession in

    lower anteriors.

    Fig. 6 e Periodontal abscesses in relation to lower right first

    and second primary molars.

    i n d i a n j o u r n a l o f d e n t i s t r y 4 ( 2 0 1 3 ) 2 1 1e2 1 4 213dysfunction can be demonstrated, it appears that an infection

    with A. actinomycetemcomitans is necessary for the periodontal

    component to develop. Leukocyte dysfunction may be

    induced by infectionwithA. actinomycetemcomitans, secondary

    to the generated leukotoxins.33.1. Histopathology

    Sloan et al studied the gingiva of a 3-year-old Iranian boy

    suffering from PapilloneLefevre syndrome was examined by

    light and electron microscopy. Deep pockets associated with

    predominantly Gram-negative plaque were present. The

    gingival lesionwas dominated by plasma cells, many of whichFig. 5 e Periodontal abscesses in relation to lower left first

    and second primary molars.were degenerate. Russell bodies were a prominent feature. No

    defect of epithelium was detected.4 As this patient was not

    willing for incisional biopsy, the histopathologic picture of

    this patient is not available.3.2. Pathophysiology

    In subjects with PapilloneLefevre syndrome there is defective

    cathepsin C production. The gene for cathepsin C lies on

    chromosome 11. Cathepsin C is a lysosomal protease and it is

    distributed to many tissues. Cathepsin C is involved in the

    activation of T cells. The exact biochemical defect leading to

    periodontal disease is still unclear. In 1942, Wannenmacher

    suggested that PapilloneLefevre syndrome was due to a

    combination of ecto and mesodermal malformations. Saaha-

    net al suggested that a functional imbalance of collagenolytic

    activity in the periodontal ligament was responsible for peri-

    odontitis in PapilloneLefevre syndrome. In 1984, VanDyke

    suggested that neutrophils from an individual with Papil-

    loneLefevre syndrome exhibit decreased receptor affinity for

    chemotaxins such as formyl peptides. Page RC et al in sug-

    gested defective cementum formation to be the cause for

    periodontitis in PapilloneLefevre syndrome. PapilloneLefevre

    syndrome is associated with myeloperoxidase deficiency, lo