Papillon-Lefèvre syndrome

Silva, Thadeu Santos; Lacerda, Priscila Neri; Rêgo, Fernanda; Rêgo, Vitória Regina Pedreira de Almeida

doi:10.1590/abd1806-4841.20187896

Cited by 5 publications

(3 citation statements)

References 4 publications

(11 reference statements)

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“…Cat C knock-out in mice and the pharmacological inhibition confirmed the central role of Cat C in NSP activation and strongly supported the application of the therapeutic strategy of pharmacological Cat C inhibition in the diseases with high burden of neutrophils . In addition, loss-of-function mutations in the Cat C gene lead to autosomal recessive genetic diseases such as Papillon–Lefèvre syndrome (PLS) and Haim–Munk syndrome (HMS), which are characterized by palm and sole keratosis and severe periodontitis. − However, the incidence of marked immunodeficiency and recurrent viral infections in PLS and HMS patients does not increase, indicating that a transitory pharmacological inhibition of Cat C could well be a safe therapeutic strategy to regulate NSP activity . Due to its function in activating NSPs, Cat C is now regarded as an attractive drug target for various NSP-related diseases.…”

Section: Introductionmentioning

confidence: 76%

Discovery and In Vivo Anti-inflammatory Activity Evaluation of a Novel Non-peptidyl Non-covalent Cathepsin C Inhibitor

et al. 2021

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Cathepsin C (Cat C) participates in inflammation and immune regulation by affecting the activation of neutrophil serine proteases (NSPs). Therefore, cathepsin C is an attractive target for treatment of NSP-related inflammatory diseases. Here, the complete discovery process of the first potent "non-peptidyl non-covalent cathepsin C inhibitor" was described with hit finding, structure optimization, and lead discovery. Starting with hit 14, structure-based optimization and structure−activity relationship study were comprehensively carried out, and lead compound 54 was discovered as a potent drug-like cathepsin C inhibitor both in vivo and in vitro. Also, compound 54 (with cathepsin C Enz IC 50 = 57.4 nM) exhibited effective anti-inflammatory activity in an animal model of chronic obstructive pulmonary disease. These results confirmed that the non-peptidyl and non-covalent derivative could be used as an effective cathepsin C inhibitor and encouraged us to continue further drug discovery on the basis of this finding.

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Section: Introductionmentioning

confidence: 76%

Discovery and In Vivo Anti-inflammatory Activity Evaluation of a Novel Non-peptidyl Non-covalent Cathepsin C Inhibitor

et al. 2021

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“…[2][3][4] Currently, there is no curative treatment but acitretin, isotretinoin, phototherapy and methotrexate have been tried with variable success. [5][6][7][8][9] A 15-year-old girl, the daughter of non-consanguineous parents, presented since her first year of life with a history of palmoplantar hyperkeratosis, erythemato-squamous itching plaques (Figure 1a) and several periodontal problems. During her childhood, she also developed recurrent skin abscesses and severe periodontitis followed by extensive resorption of alveolar bone when she grew up (Figure 1b).…”

Section: Novel Compound Heterozygous Mutation In Ctsc Gene With Respo...mentioning

confidence: 99%

Novel compound heterozygous mutation in CTSC gene with response to ustekinumab

Latour-Álvarez

Ortega‐Ramírez

Alonso‐Serrano

et al. 2023

Acad Dermatol Venereol

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“…The changes in the skin begin to appear in the initial four years of life, which consist of keratotic lesions on the palms and soles. 4 The skin of the palms and soles show characteristic thickenings due to hyperkeratosis and usually is accompanied by foulsmelling. The periodontium is also affected early years in the form of loosening of teeth and severe periodontitis.…”

Section: Introductionmentioning

confidence: 99%

Dental Prosthetic Rehabilitation of Papillon-Lefèvre Syndrome: A Case Report

Patil

Metkari

Shetty

et al. 2020

Clinics and Practice

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Papillon-Lefèvre syndrome (PLS) is a rare disorder characterized by palmar plantar hyperkeratosis and rapidly progressive periodontitis with loss of deciduous and permanent dentition at an early age. It is reported to occur in 1 to 4 individuals per million people. This case report presents highlighting features of the rare PLS in a 17-year old male who complained of discomfort while mastication and it was accompanied with symmetrical, sharply demarcated erythematous plaques involving the skin of the palms and soles, which extended to the finger joints, elbows, and knees. Along with the rough and dry skin, hyperhidrosis of lesion with a foul odor and transverse grooving of nails were noted. The past dental history revealed normal eruption of deciduous teeth followed by pre-mature mobility and shedding in 4-6 months. Permanent teeth also showed normal eruption and early shedding in the next 4-5 years. Complete edentulous maxillary and mandibular arches led to a decrease in alveolar bone and facial heights. There was no similar disorder in the patient’s family but family history revealed the consanguineous marriage of the patient’s parents.

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Papillon-Lefèvre syndrome

Cited by 5 publications

References 4 publications

Discovery and In Vivo Anti-inflammatory Activity Evaluation of a Novel Non-peptidyl Non-covalent Cathepsin C Inhibitor

Discovery and In Vivo Anti-inflammatory Activity Evaluation of a Novel Non-peptidyl Non-covalent Cathepsin C Inhibitor

Novel compound heterozygous mutation in CTSC gene with response to ustekinumab

Dental Prosthetic Rehabilitation of Papillon-Lefèvre Syndrome: A Case Report

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