Autosomal recessive pachyonychia congenita

Haber, R. M.

doi:10.1001/archderm.122.8.919

Cited by 25 publications

(22 citation statements)

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“…In five of these (families [16][17][18][19][20] mutations were at the intron 1/exon 2 boundary of K6a; three different sequence changes were identified, all of which we have reported previously, 16 but at that time, owing to the unavailability of mRNA, we were unable to identify the mutations at the protein level. However, in this study we obtained mRNA from a skin biopsy from an affected individual from family 17 with mutation K6a c.541-2A>G. The resulting cDNA was amplified by PCR and cloned, and several clones were sequenced to identify the consequence of this mutation.…”

Section: Mutation Analysismentioning

confidence: 66%

“…In all cases, the mutations were heterozygous sequence changesmissense, nonsense, small deletion/insertion or splice-site mutations -confirming this is predominantly, if not exclusively, an autosomal dominant disorder. While there are a few case reports of recessive PC reported in the literature, 19 as yet there are no recessive cases with confirmed genetic testing. The majority of the mutations identified have been previously reported with some mutations, for example K6a p.Asn172del, K16 p.Asn125Ser, K16 p.Arg127Cys and K17 p.Asn92Ser occurring frequently.…”

Section: Discussionmentioning

confidence: 96%

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The molecular genetic analysis of the expanding pachyonychia congenita case collection

Wilson

O’Toole

Milstone

et al. 2013

Journal of Dermatological Science

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Section: Mutation Analysismentioning

confidence: 66%

Section: Discussionmentioning

confidence: 96%

The molecular genetic analysis of the expanding pachyonychia congenita case collection

Wilson

O’Toole

Milstone

et al. 2013

Journal of Dermatological Science

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“…Cette génodermatose est habituellement transmise sur le mode autosomique dominant avec liaison aux chromosomes 12q11 et 17q12 [42,132]. Des formes récessives ont été décrites [61].…”

Section: Porokératose Ponctuéeunclassified

“…Les lésions unguéales apparaissent classiquement pré-cocement, au cours des premiers mois, mais des formes à début tardif ont été rapportées [61,114]. Pour Lucker et al [96], la PC est caractérisée par une dystrophie de tous les ongles et des lésions dyskératosiques cutanées, la présence d'autres anomalies n'est pas nécessaire au diagnostic.…”

Section: Pachyonychie Congénitaleunclassified

Hereditary palmoplantar keratoderma

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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“…Çocukluktan sonra ortaya çıkan daha nadir olgular, pakianiki kongenita tarda olarak adlandırılmaktadır (6,7). Akraba evliliklerinden olan az sayıda çocukta otozornal resesif genetik geçiş bildirilmiştir (8,9 …”

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