Late-onset Papillon-Lefèvre syndrome without alteration of the cathepsin C gene

Pilger, Ulrike; Hennies, Hans Christian; Truschnegg, Astrid; Aberer, Elisabeth

doi:10.1016/s0190-9622(03)01558-5

Cited by 38 publications

(31 citation statements)

References 13 publications

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“…The gene responsible for it has been localized to chromosome 11q14-21 where the cathepsin C gene is, encoding a lysosomal protease, in the interval between D11S4082 and D11S931. Subsequently, inactivating mutations were identified in this gene and an almost total loss of cathepsin C activity was shown in patients with Papillon-Lefevre syndrome (4)(5)(6). An interesting feature of the cathepsin C gene is that mutations in this gene also result in two other closely related conditions: the Haim-Munk syndrome, and prepubertal periodontitis.…”

Section: Discussionmentioning

confidence: 99%

“…An important point to note is that if retinoid therapy is started during the eruption of the permanent teeth, it can result in the development of normal dentition (2,(4)(5)(6)12,13). Thus both the dermatologist and dental professional can help to save the permanent dentition if they diagnose this disease during childhood.…”

Section: Discussionmentioning

confidence: 99%

“…The inheritance is autosomal recessive and consanguinity is a notable feature in many patients. Other features of the syndrome which have been reported less frequently, include psoriasiform plaques of the elbows and knees, nail changes, calcification of the dura, and recurrent pyogenic skin infections (1)(2)(3)(4)(5)(6). This disease usually has its onset between the ages of 1 to 4 years.…”

Section: Introductionmentioning

confidence: 99%

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Papillon Lefevre syndrome: Bridge between Dermatologist and Dentist

Singla¹,

Sheikh²,

Jindal³

et al. 2010

J Clin Exp Dent

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Papillon-Lefevre syndrome is a rare autosomal recessively inherited condition which shows features common to both dentistry and dermatology. This disease is characterized by palmoplantar hyperkeratosis and severe periodontitis. Therefore both the dentist and the dermatologist should be aware of the same because an early diagnosis of the syndrome can help to preserve the teeth by early institution of treatment, using a multidisciplinary approach. Here we present a case report of Papillon-Lefevre syndrome, along with a comprehensive review of the etiology, pathology, clinical features, differential diagnosis and management of the condition. .

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Section: Discussionmentioning

confidence: 99%

Section: Discussionmentioning

confidence: 99%

Section: Introductionmentioning

confidence: 99%

See 1 more Smart Citation

Papillon Lefevre syndrome: Bridge between Dermatologist and Dentist

Singla¹,

Sheikh²,

Jindal³

et al. 2010

J Clin Exp Dent

View full text Add to dashboard Cite

show abstract

“…There was no mutation in the cathepsin C gene. The authors suspect a different genetic cause responsible for this late-onset forms of PLS [63]. In some cases, the reason for considering late presentation of PLS is not clear as in the case of a 25-year-old Iranian edentulous woman who presented originally at 7 years of age with PPK and started to lose her permanent teeth at the age of 12 years [42].…”

Section: Atypical Plsmentioning

confidence: 99%

Syndromes That Include Both Palmoplantar Keratoderma And Severe Periodontitis: A Review

Dababneh¹

2013

Dentistry

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Palmoplantar keratodermas (PPK) include a heterogeneous group of disorders with overlapping clinical features. The main aspect of PPK is thickening and hyperkeratosis of the palmar and plantar skin, that may be hereditary or acquired; diffuse, focal, or punctuate; and transgrediens or progrediens. PPKs are further distinguished by their mode of inheritance and by the presence of certain associated clinical features. Periodontitis was reported in association with more than one syndrome characterized by PPK. An extensively reported one is the Papillon-Lefévre syndrome (PLS) which is characterized by early onset of PPK and periodontitis affecting the primary and secondary dentitions. In addition to PLS, Haim-Munk, HOPP, Variant Carvajal and Weary-Kindler are other syndromes manifested by PPK and reported in association with severe periodontitis. Atypical cases of PLS were also reported, such as partial expression or a late presentation of the syndrome. The aim of this article is to critically review the literature concerned with Papillon-Lefévre syndrome in its typical and atypical clinical presentation, in addition to other syndromes manifested at the same time by PPK and severe periodontitis.Thorough history and medical examination, together with periodontal, dermatologic, and genetic counseling, are important to exclude other existing medical conditions or other syndromes that might need special attention and care.

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“…Therefore, mutations in the CTSC gene are expected to lead to an increased frequency of infections [1,7,9,10]. Similarly in the skin, mutations in CTSC might affect the epithelial differentiation process and lead to hyperkeratosis [11]. …”

Section: Introductionmentioning

confidence: 99%

Evidence for a Founder Mutation in the Cathepsin C Gene in Three Families with Papillon-Lefèvre Syndrome

et al. 2009

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Background: Papillon-Lefèvre syndrome (PLS; OMIM 245000) is a rare autosomal recessive disorder. Clinically, PLS is characterized by hyperkeratosis involving the palms, soles, elbows and knees which is followed later on by periodontitis, destruction of alveolar bone and loss of primary and permanent teeth. The condition is caused by mutations in the cathepsin C (CTSC) gene. Methods: We analyzed the DNA of members from 3 consanguineous families for mutations in the CTSC gene by direct sequencing analysis. We then performed haplotype analysis. Results: We identified an identical recurrent missense mutation, R272P, in all 3 families. Microsatellite marker analysis around the CTSC gene revealed the same haplotype on the mutation-carrying allele in all 3 families. Conclusion: The presence of this common mutation in families from 2 different geographical areas provides evidence for a founder effect for CTSC mutations in PLS.

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Late-onset Papillon-Lefèvre syndrome without alteration of the cathepsin C gene

Cited by 38 publications

References 13 publications

Papillon Lefevre syndrome: Bridge between Dermatologist and Dentist

Papillon Lefevre syndrome: Bridge between Dermatologist and Dentist

Syndromes That Include Both Palmoplantar Keratoderma And Severe Periodontitis: A Review

Evidence for a Founder Mutation in the Cathepsin C Gene in Three Families with Papillon-Lefèvre Syndrome

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