Ann Dermatol.  2013 Nov;25(4):508-510. 10.5021/ad.2013.25.4.508.

A Novel Missense Mutation of Keratin 17 Gene in a Chinese Family with Steatocystoma Multiplex

• Ha WW
• Wang J
• Wang W
• Fu HY
• Tang HY
• Tang XF
• Zhu J
• Yin XY
• Yang S
• Zhang XJ

• KMID: 2265077
• DOI: http://doi.org/10.5021/ad.2013.25.4.508

Abstract

No abstract available.

MeSH Terms

Asian Continental Ancestry Group*
Humans
Keratin-17*
Mutation, Missense*
Steatocystoma Multiplex*
Keratin-17

Figure

• 

  Fig. 1 (A, B) Steatocystoma multiplex lesions located on the chest and neck of the proband in pedigree 1. (C) The phenotype consisting of myriads of cysts on the abdomen of the prohand's father. (D) Pathological changes of cystic modules from the chest of the proband (H&E, ×400).

• 

  Fig. 2 (A, B) Heterozygous double peaks of nucleotide C and T at nucleotide 71 in patients of pedigree. (C) Normal sequence.

Reference

1. Moritz DL, Silverman RA. Steatocystoma multiplex treated with isotretinoin: a delayed response. Cutis. 1988; 42:437–439.

2. Smith FJ, Corden LD, Rugg EL, Ratnavel R, Leigh IM, Moss C, et al. Missense mutations in keratin 17 cause either pachyonychia congenita type 2 or a phenotype resembling steatocystoma multiplex. J Invest Dermatol. 1997; 108:220–223.

3. Covello SP, Smith FJ, Sillevis Smitt JH, Paller AS, Munro CS, Jonkman MF, et al. Keratin 17 mutations cause either steatocystoma multiplex or pachyonychia congenita type 2. Br J Dermatol. 1998; 139:475–480.

4. McLean WH, Rugg EL, Lunny DP, Morley SM, Lane EB, Swensson O, et al. Keratin 16 and keratin 17 mutations cause pachyonychia congenita. Nat Genet. 1995; 9:273–278.

5. Smith FJ, Jonkman MF, van Goor H, Coleman CM, Covello SP, Uitto J, et al. A mutation in human keratin K6b produces a phenocopy of the K17 disorder pachyonychia congenita type 2. Hum Mol Genet. 1998; 7:1143–1148.