Papillon–Lefèvre syndrome

Reyes, Violetta O.; King-Ismael, Daisy; Abad‐Venida, Luisa

doi:10.1046/j.1365-4362.1998.00235.x

Cited by 10 publications

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“…Clinical findings such as liver abscesses[2122] and cranial calcifications[23] have been reported in many cases, were absent in current cases. Given the high rate of parental consanguinity reported for PLS cases, it is possible these rarer findings are the result of the high degree of homozygosity of another alleles in addition to the CTSC locus.…”

Section: Discussionmentioning

confidence: 77%

Papillon-lefevre syndrome: Case series and review of literature

Bhavsar

Brahmbhatt

Sahayata

et al. 2013

J Indian Soc Periodontol

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Papillon-lefevre syndrome (PLS) belongs to a heterogeneous group of skin diseases that are characterized by hyperkeratosis of palms and soles. It is a type IV palmoplantar keratosis (PPK) while the palmoplantar keratodermas share some features of PPK, they are etiologically heterogeneous. PLS differs from other types of PPK by the presence of severe and early onset periodontitis. Genetic studies have shown that mutation in the major gene locus of chromosome 11q14 with the loss of function of cathepsin-C (CTSC) gene is responsible for PLS. CTSC gene mutations are causative for PLS. The resultant loss of CTSC function is responsible for the severe periodontal destruction seen clinically. This report represents two siblings with classical signs and symptoms of PLS.

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Section: Discussionmentioning

confidence: 77%

Papillon-lefevre syndrome: Case series and review of literature

Bhavsar

Brahmbhatt

Sahayata

et al. 2013

J Indian Soc Periodontol

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“…The aggressive inflammatory periodontal process then re-triggers itself after the eruption of the permanent teeth, and in general all or most of the permanent dentition is lost during the teenage years [ 7 ]. Radiographic features are characterized by generalized loss of alveolar bone [ 3 ] and intracranial calcification [ 17 ]. A well-documented case series of PLS among five siblings in a family is presented.…”

Section: Introductionmentioning

confidence: 99%

Papillon–Lefèvre syndrome: a series of five cases among siblings

et al. 2016

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BackgroundPapillon–Lefèvre syndrome is a rare autosomal recessive disorder characterized by palmoplantar hyperkeratosis and aggressively progressing periodontitis leading to premature loss of deciduous and permanent dentition. The etiopathogenesis of the syndrome is relatively obscure, and immunologic, genetic, or possible bacterial etiologies have been proposed.Case presentationA series of five cases of Papillon–Lefèvre syndrome among the siblings in a family is presented here: a 3-year-old Arab girl, a 4-year-old Arab boy, a 11-year-old Arab boy, a 12-year-old Arab boy, and a 14-year-old Arab boy. The patients presented with severe gingival inflammation and mobility of teeth. The clinical manifestations were typical of Papillon–Lefèvre syndrome and the degree of involvement of the oral and skin conditions varied among them.ConclusionsThis case series stresses the consanguinity in the family as an etiologic factor. All siblings in the family were affected with Papillon–Lefèvre syndrome which makes this a rare case. A multidisciplinary approach with the active participation of a dental surgeon, dermatologist, and pediatrician is essential for the management of cases of Papillon–Lefèvre syndrome.

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“…There are three criteria for diagnosis: (i) transgradient PPK; (2) periodontal disease leading to shedding of primary and secondary dentition; and (iii) recurrent cutaneous and systemic pyodermas 8 . Other presentations with lower frequency include psoriasiform plaques of the elbows and knees, dural calcifications, 7 and hearing loss 9 . Associated hyperhidrosis causes an unpleasant odor 10 .…”

Section: Discussionmentioning

confidence: 99%

Late‐onset Papillon–Lefevre syndrome with pyogenic liver abscesses: report of one case

Yazdanfar

Farahnaki

2008

Int J Dermatology

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A 25‐year‐old woman living in Hamedan, Iran, presented originally at 7 years of age with erythematous, hyperkeratotic lesions on the palms and soles with extension to the dorsal side of the hands and feet. Involvement of the elbows and knees was also seen. From 12 years of age, she started to lose her teeth. At the same age, she experienced fever, chills, malaise, myalgia, and right upper quadrant abdominal pain. With a diagnosis of pyogenic liver abscesses, the patient underwent successful surgical treatment. Examination revealed erythematous, hyperkeratotic, scaling plaques on the palms and soles, dorsal side of the hands and feet (Fig. 1), elbows and knees. All the teeth were missing from the mouth (Fig. 2), and she used a dental prosthesis. A surgical scar was observed on the right upper quadrant of the abdomen (Fig. 3). Skull X‐ray and computed tomography scan were normal. Skin biopsy of the dorsal right hand demonstrated hyperkeratosis, focal parakeratosis, hypergranulosis, and acanthosis with a mild inflammatory infiltrate around the vessels (Fig. 4). 1 Hyperkeratotic plaques on the hands and feet 2 Loss of permanent teeth 3 Surgical scar on the right upper quadrant of the abdomen and hyperkeratotic plaques on the hand 4 Hyperkeratosis, focal parakeratosis, hypergranulosis, and acanthosis (hematoxylin and eosin, ×40)

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Papillon–Lefèvre syndrome

Cited by 10 publications

References 0 publications

Papillon-lefevre syndrome: Case series and review of literature

Papillon-lefevre syndrome: Case series and review of literature

Papillon–Lefèvre syndrome: a series of five cases among siblings

Late‐onset Papillon–Lefevre syndrome with pyogenic liver abscesses: report of one case

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