First Report of Pachyonychia Congenita Type PC-K6a in the Romanian Population

Anca Chiriac; Cristina Rusu; Alina Murgu; Anca E. Chiriac; Neil J. Wilson; Frances J. D. Smith

First Report of Pachyonychia Congenita Type PC-K6a in the Romanian Population

Anca Chiriac (Lead / Corresponding author), Cristina Rusu, Alina Murgu, Anca E. Chiriac, Neil J. Wilson, Frances J. D. Smith

Biological Chemistry and Drug Discovery

Research output: Contribution to journal › Article › peer-review

Abstract

Pachyonychia congenita (PC) is a rare autosomal dominant skin disorder, with unknown prevalence, although it is estimated there are between 2,000 and 10,000 cases of PC worldwide. The International PC Research Registry (IPCRR) has currently identified (as of November 2016) 746 individuals (in 403 families) with genetically confirmed PC. Heterozygous mutations, predominantly missense mutations, in any one of five keratin genes, KRT6A, KRT6B, KRT6C, KRT16, or KRT17 cause PC. The predominant clinical findings include plantar keratoderma, plantar pain and variable dystrophy of some or all toenails and/ or fingernails. Oral leukokeratosis, follicular hyperkeratosis, cysts of various types and natal teeth may also be present. We report the first case of genetically confirmed PC from Romania due to a mutation in KRT6A, p.Arg466Pro.

Original language	English
Pages (from-to)	123-126
Number of pages	4
Journal	Maedica
Volume	12
Issue number	2
Publication status	Published - Jun 2017

Keywords

Pachyonychia congenita
Oral leukokeratosis
Nail dystrophy
palmoplantar keratoderma
Plantar pain
Keratin mutation

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Cite this

@article{f8a47189fd334ce98cd5673a5c890354,

title = "First Report of Pachyonychia Congenita Type PC-K6a in the Romanian Population",

abstract = "Pachyonychia congenita (PC) is a rare autosomal dominant skin disorder, with unknown prevalence, although it is estimated there are between 2,000 and 10,000 cases of PC worldwide. The International PC Research Registry (IPCRR) has currently identified (as of November 2016) 746 individuals (in 403 families) with genetically confirmed PC. Heterozygous mutations, predominantly missense mutations, in any one of five keratin genes, KRT6A, KRT6B, KRT6C, KRT16, or KRT17 cause PC. The predominant clinical findings include plantar keratoderma, plantar pain and variable dystrophy of some or all toenails and/ or fingernails. Oral leukokeratosis, follicular hyperkeratosis, cysts of various types and natal teeth may also be present. We report the first case of genetically confirmed PC from Romania due to a mutation in KRT6A, p.Arg466Pro.",

keywords = "Pachyonychia congenita, Oral leukokeratosis, Nail dystrophy, palmoplantar keratoderma, Plantar pain, Keratin mutation",

author = "Anca Chiriac and Cristina Rusu and Alina Murgu and Chiriac, {Anca E.} and Wilson, {Neil J.} and Smith, {Frances J. D.}",

note = "This work was supported by the Pachyonychia Congenita Project and the Centre for Dermatology and Genetic Medicine at the University of Dundee [098439JZ/12/Z to W.H.I.Mclean].",

year = "2017",

month = jun,

language = "English",

volume = "12",

pages = "123--126",

journal = "Maedica",

issn = "1841-9038",

number = "2",

}

TY - JOUR

T1 - First Report of Pachyonychia Congenita Type PC-K6a in the Romanian Population

AU - Chiriac, Anca

AU - Rusu, Cristina

AU - Murgu, Alina

AU - Chiriac, Anca E.

AU - Wilson, Neil J.

AU - Smith, Frances J. D.

N1 - This work was supported by the Pachyonychia Congenita Project and the Centre for Dermatology and Genetic Medicine at the University of Dundee [098439JZ/12/Z to W.H.I.Mclean].

PY - 2017/6

Y1 - 2017/6

N2 - Pachyonychia congenita (PC) is a rare autosomal dominant skin disorder, with unknown prevalence, although it is estimated there are between 2,000 and 10,000 cases of PC worldwide. The International PC Research Registry (IPCRR) has currently identified (as of November 2016) 746 individuals (in 403 families) with genetically confirmed PC. Heterozygous mutations, predominantly missense mutations, in any one of five keratin genes, KRT6A, KRT6B, KRT6C, KRT16, or KRT17 cause PC. The predominant clinical findings include plantar keratoderma, plantar pain and variable dystrophy of some or all toenails and/ or fingernails. Oral leukokeratosis, follicular hyperkeratosis, cysts of various types and natal teeth may also be present. We report the first case of genetically confirmed PC from Romania due to a mutation in KRT6A, p.Arg466Pro.

AB - Pachyonychia congenita (PC) is a rare autosomal dominant skin disorder, with unknown prevalence, although it is estimated there are between 2,000 and 10,000 cases of PC worldwide. The International PC Research Registry (IPCRR) has currently identified (as of November 2016) 746 individuals (in 403 families) with genetically confirmed PC. Heterozygous mutations, predominantly missense mutations, in any one of five keratin genes, KRT6A, KRT6B, KRT6C, KRT16, or KRT17 cause PC. The predominant clinical findings include plantar keratoderma, plantar pain and variable dystrophy of some or all toenails and/ or fingernails. Oral leukokeratosis, follicular hyperkeratosis, cysts of various types and natal teeth may also be present. We report the first case of genetically confirmed PC from Romania due to a mutation in KRT6A, p.Arg466Pro.

KW - Pachyonychia congenita

KW - Oral leukokeratosis

KW - Nail dystrophy

KW - palmoplantar keratoderma

KW - Plantar pain

KW - Keratin mutation

M3 - Article

C2 - 29090033

SN - 1841-9038

VL - 12

SP - 123

EP - 126

JO - Maedica

JF - Maedica

IS - 2

ER -

First Report of Pachyonychia Congenita Type PC-K6a in the Romanian Population

Abstract

Keywords

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