Papillon-Lefèvre Syndrome Ultrastructural Study and Successful Treatment With Acitretin

Nazzaro, V.; Blanchet-Bardon, C; Mimoz, C; Revuz, J.; Puissant, A

doi:10.1001/archderm.1988.01670040035018

Cited by 59 publications

(31 citation statements)

References 14 publications

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“…Furthermore, some authors believe that if treatment is started at an early age, patients would possibly have normal adult dentition [55]. One of the studied cases (7P) is only 18-months-old, and will be under treatment and observation to avoid serious complications.…”

Section: Discussionmentioning

confidence: 99%

Identification of novel mutation in cathepsin C gene causing Papillon-Lefèvre Syndrome in Mexican patients

et al. 2013

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BackgroundPapillon-Lefèvre Syndrome (PLS) is a type IV genodermatosis caused by mutations in cathepsin C (CTSC), with a worldwide prevalence of 1–4 cases per million in the general population. In México, the prevalence of this syndrome is unknown, and there are few case reports. The diagnosis of twenty patients in the state of Sinaloa highlights the need to characterize this syndrome in Mexicans.MethodsTo understand the basis of PLS in Mexicans, the gene expression, enzymatic activity and mutational analysis of CTSC were assayed in nine PLS patients and their relatives. Frequencies of CTSC gene polymorphisms and HLA alleles were determined in these patients, their relatives, and the population.ResultsPatients showed normal CTSC gene expression, but a deep reduction (up to 85%) in enzymatic activity in comparison to unrelated healthy individuals. A novel loss-of-function mutation, c.203 T >; G (p.Leu68Arg), was found in all patients, and some carried the polymorphism c.458C >; T (p.Thr153Ile). Allelic frequencies in patients, relatives and controls were 88.89%, 38.24% and 0.25% for G (c.203 T >; G); and 11.11%, 8.82% and 9.00% for T (c.458C >; T). HLA-DRB1*11 was found significantly more frequent (P = 0.0071) in patients than controls (33.33% vs. 7.32%), with an estimated relative risk of 6.33.ConclusionsThe novel loss-of function mutation of CTSC gene (c.203 T >; G) found in patients correlated with their diminished enzymatic activity, and HLA-DRB1*11 was found to be associated with PLS. The study of more PLS patients may give more insights into the etiology of the disease as well as its prevalence in México.

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Section: Discussionmentioning

confidence: 99%

Identification of novel mutation in cathepsin C gene causing Papillon-Lefèvre Syndrome in Mexican patients

et al. 2013

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“…commun.]. In Papillon-Lefèvre syndrome, ultrastructural studies have revealed lipid-containing vacuoles in stratum corneum cells [21]. It seems speculative to relate the decreased amounts of total ceramides or the increased level of free sterols to these stratum corneum lipids.…”

Section: Discussionmentioning

confidence: 99%

Lipid Composition of Outer Stratum corneum in Hereditary Palmoplantar Keratodermas

Küster¹,

Melnik

Traupe

et al. 2003

Dermatology

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Background: The analysis of lipid composition of the outer stratum corneum is a promising approach to study the pathophysiology of inherited disorders of keratinization. Objective: The purpose of the study was the search for biochemical alterations of stratum corneum lipids in hereditary palmoplantar keratoderma (PPK). Methods: Using high-performance thin-layer chromatography, we performed an analysis of all major stratum corneum lipid classes in scales of 29 patients with 8 different types of hereditary PPK. Results: In comparison to the controls, slight differences in the lipid pattern were found in all keratodermas. Reduced amounts of total ceramides and increased levels of free fatty acids were noted in nearly all types. Conclusions: The study indicates that the abnormal composition of stratum corneum lipids in PPK is probably not caused by genetic defects of the epidermal lipid metabolism, but it appears to represent an epiphenomenon of a disturbed cornification.

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“…Les lésions érythèmato-squameuses palmoplantaires sont diffuses, symétriques, bien limitées, plus ou moins fissuraires, et plus ou moins épaisses. Cette KPP est extensive et transgrédiente débordant sur les faces laté-rales et dorsales des mains et des pieds, sur le tendon d'Achille et sur les malléoles externes [106,136]. Des placards érythemato-kératosiques psoriasiformes peuvent être observés au niveau des coudes et des genoux [106,136], plus rarement au niveau des jambes, des bras, du tronc [106], ou au niveau des pavillons des oreilles et des conduits auditifs externes [106].…”

Section: Le Syndrome De Papillon-lefèvreunclassified

“…Une hyperhidrose palmoplantaire malodorante est fréquente, parfois il existe une anhidrose. Des lésions unguéales ont été rapportées, à type d'onychodystrophie, d'onychogryphose, de striations transversales ou longitudinales et de ponctuations unguéales [106].…”

Section: Le Syndrome De Papillon-lefèvreunclassified

“…Il réalise une hyperkératose, parfois avec parakératose, une hypergranulose, une acanthose et une papillomatose. Le derme superficiel est le siège d'un infiltrat péri-vasculaire modéré lympho-histiocytaire [34,106]. L'examen ultrastructural montre des vacuoles pseudolipidiques au niveau des cornéocytes et des granulocytes, des granules de kératohyaline irréguliers et une réduction des tonofilaments [106].…”

Section: Le Syndrome De Papillon-lefèvreunclassified

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Les kératodermies palmo-plantaires héréditaires

Mokni¹,

Triki²,

Guedamsi³

et al. 2005

Med Chir Pied

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Les kératodermies palmo-plantaires (KPP) sont un groupe hétérogène de maladies cutanées, caractérisées par une hyperkératose des paumes et des plantes, parmi lesquelles on distingue trois groupes : KPP héréditaires, génodermatoses avec KPP et KPP acquises. Les KPP héré-ditaires sont classées selon le mode de transmission, l'aspect clinique et le type d'hyperkératose (diffus, focal ou ponctué), l'atteinte d'autres structures ectodermales, la présence ou l'absence de symptômes associés non ectodermaux, les données histologiques et la physiopathologie. Nous présentons un bilan des connaissances actuelles sur les principales KPP héréditaires.Abstract: Palmoplantar keratoderma (PKK) refers to a genetically heterogenous group of skin diseases characterised by hyperkeratosis of the palms and soles. They can be subdivided into three groups: hereditary PPK, genodermatosis with PPK and aquired PPK. Hereditary forms are classified on the basis of the morphology, distribution of the kyperkeratosis (diffuse, focal or punctate), associated symptoms, mode of inheritance and histopathologic findings. We report a review of the principal hereditary PPK.

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Papillon-Lefèvre Syndrome Ultrastructural Study and Successful Treatment With Acitretin

Cited by 59 publications

References 14 publications

Identification of novel mutation in cathepsin C gene causing Papillon-Lefèvre Syndrome in Mexican patients

Identification of novel mutation in cathepsin C gene causing Papillon-Lefèvre Syndrome in Mexican patients

Lipid Composition of Outer Stratum corneum in Hereditary Palmoplantar Keratodermas

Les kératodermies palmo-plantaires héréditaires

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