Pachyonychia congenita (PC) is an autosomal dominant group of diseases characterized
by nail dystrophy and varying features of ectodermal dysplasia. Two clinical PC subtypes
have been described. Jadassohn and Lewandowsky, or PC-1 type (OMIM No. 167200), is
characterized by onychogryposis, hyperkeratosis of the palms, soles, knees, and elbows,
follicular hyperkeratosis, and leukoplakia of the oral mucous membranes. Jackson and
Lawler, or PC-2 variant (OMIM No.167210), shows no oral leukoplakia but has natal
teeth and multiple pilosebaceous cysts in addition to pachyonychia. PC-1 is caused
by mutations in keratin K16 or K6a [
1
,
2
], but in contrast, PC-2 is caused by mutations in K17 [
1
,
3
,
4
,
5
] or its expression partner, K6b [
[6]
]. Some steatocystoma multiplex families with little or no nail changes have also been
reported to have K17 mutations [
7
,
8
]. In addition, a rare case with overlapping clinical features of PC-1 and PC-2 with
a K6a mutation has been reported. PC is a rare genodermatosis, and there have only
been two searches for PC mutations in sporadic PC-2 cases in Japan [
9
,
10
]. Here, we report a Japanese family with PC-2 in which a missense mutation (G452A)
in K17 was identified.To read this article in full you will need to make a payment
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References
- Keratin 16 and keratin 17 mutations cause pachyonychia congenita.Nat Genet. 1995; 9: 273-278
- A novel mutation in the second half of the keratin 171A domain in a large pedigree with delayed-onset pachyonychia congenita type 2.J Invest Dermatol. 2004; 122: 892-895
- Identification of a germline mutation in keratin 17 in a family with pachyonychia congenital type 2.J Invest Dermatol. 1999; 113: 848-850
- Novel keratin 17 mutation in pachyonychia congenita type 2.J Invest Dermatol. 2001; 116: 806-808
- Novel and recurrent mutations in the genes encoding keratins K6a, K16 and K17 in 13 cases of pachyonychia congenital.J Invest Dermatol. 2001; 117: 1391-1396
- A mutation in human keratin K6b produces a phenocopy of the K17 disorder pachyonychia congenita type 2.Hum Mol Genet. 1998; 7: 1143-1148
- Missense mutations in keratin 17 cause either pachyonychia congenita type 2 or a phenotype resembling steatocystoma multiplex.J Invest Dermatol. 1997; 108: 220-223
- Keratin 17 mutations cause either steatocystoma multiplex or pachyonychia congenita type 2.Br J Dermatol. 1998; 139: 475-480
- Pachyonychia congenital type 2: keratin 17 mutation in a Japanese case.J Am Acad Dermatol. 1998; 38: 1007-1009
- A novel point mutation in the keratin 17 gene in a Japanese case of pachyonychia congenital type 2.J Invest Dermatol. 2002; 118: 545-547
Article info
Publication history
Accepted:
December 28,
2004
Received:
November 24,
2004
Identification
Copyright
© 2005 Japanese Society for Investigative Dermatology. Published by Elsevier Inc. All rights reserved.
