Ann Dermatol.  2018 Oct;30(5):633-635. 10.5021/ad.2018.30.5.633.

Huge Steatocystoma Multiplex with New Point Mutation in the Exon 1 of KRT 17 Gene

Affiliations
  • 1Department of Dermatology, School of Medicine, Kyungpook National University, Kyungpook National University Hospital, Daegu, Korea. weonju@knu.ac.kr

Abstract

No abstract available.


MeSH Terms

Exons*
Point Mutation*
Steatocystoma Multiplex*

Figure

  • Fig. 1 A) Huge multiple cysts on her back and right axilla and (B) improved status after operation.

  • Fig. 2 (A) A cyst covered by stratified squamous cells with adjacent sebaceous glands (H&E, ×100). (B) Immunohistochemistry was positive on the cyst wall and sebaceous glands (CK-17, ×200). (C) Missense mutation in exon 1 of KRT 17 gene (c. 425G>T).


Reference

1. Kamra HT, Gadgil PA, Ovhal AG, Narkhede RR. Steatocystoma multiplex-a rare genetic disorder: a case report and review of the literature. J Clin Diagn Res. 2013; 7:166–168.
2. Jeong SY, Kim JH, Seo SH, Son SW, Kim IH. Giant steatocystoma multiplex limited to the scalp. Clin Exp Dermatol. 2009; 34:e318–e319.
Article
3. Liu Q, Wu W, Lu J, Wang P, Qiao F. Steatocystoma multiplex is associated with the R94C mutation in the KRTl7 gene. Mol Med Rep. 2015; 12:5072–5076.
Article
4. 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.
Article
5. Irvine AD, McLean WH. Human keratin diseases: the increasing spectrum of disease and subtlety of the phenotype-genotype correlation. Br J Dermatol. 1999; 140:815–828.
Article
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