Steatocystoma multiplex, oligodontia and partial persistent primary dentition associated with a novel keratin 17 mutation

Gass, Julia; Wilson, Neil; Smith, Frances J.D.; Lane, E. Birgitte; McLean, W.H. Irwin; Rytina, E.; Salvary, I.; Burrows, Nigel

doi:10.1111/j.1365-2133.2009.09383.x

Cited by 22 publications

(12 citation statements)

References 11 publications

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“…The KRT 17 gene is located on the long arm of chormosome 17, between positions 12 and 21 and the mutations in this gene interfere with the assembly of the keratin intermediate filament network. 15 Smith FJD have reported heterozygous missense mutations in K17 in two families who were diagnosed as steatocystoma multiplex. 16 In our case, the patient had no features of pachyonychia congenita type-2 such as hypertrophic nail dystrophy, focal keratoderma and multiple pilosebaceous cyst.…”

Section: Discussionmentioning

confidence: 99%

Steatocystoma Multiplex of Scortum- Rare Genetic Disorder: A Case Report and Review of Literature

Saha

Banik

et al. 2016

J. Bangladesh Coll. Phys.

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A 25 years old male attended the skin & VD outpatient department of Khulna Medical College Hospital on 16th June, 2013 with complaints of multiple asymptomatic small rounded firm, cystic nodules that are adherent to the overlying skin of scortum. The microscopic examination of the cystic nodules showed the features of steatocystoma multiplex. This disorder, although it is asymptomatic, is a cosmetic threat to the patient. Only a few cases of the patients with an autosomal dominant mutation, who had keratin 17; have been reported. We are reporting here a case of steatocystoma multiplex of scortum in a 25 years old male along with review of literature.J Bangladesh Coll Phys Surg 2015; 33(4): 218-221

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Section: Discussionmentioning

confidence: 99%

Steatocystoma Multiplex of Scortum- Rare Genetic Disorder: A Case Report and Review of Literature

Saha

Banik

et al. 2016

J. Bangladesh Coll. Phys.

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“…[12][13][14][15] It can be seen in syndromic patients as well as nonsyndromic individuals. Several studies disclosed that seven genes are currently known to have a potential for causing nonsyndromic oligodontia: PAX9 [16] (paired box gene 9), MSX1 [17] (muscle segment homeobo × 1), EDA [18] (ectodysplasin A), AXIN2 [16] (axis inhibition protein), NEMO [19] (NF-kappa-B essential modulator), KRT17 [20] (keratin 17), and EDARADD [16] (EDAR-associated death domain). These types of abnormal incidents accompanying by class II division 2 malocclusion were known to be infrequent.…”

Section: Discussionmentioning

confidence: 99%

Multiple tooth anomalies in a nonsyndromic patient with class II division 2 malocclusions: A case report and a literature review

İşman

Aktan

et al. 2015

Niger J Clin Pract

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Reports in the literature about the craniofacial characteristics of patients with class II division 2 malocclusions show a lot of different patterns accompanied by palatally displaced upper incisors, congenital missing teeth, polydiastema, fusion, germination, tooth impaction, peg-shaped lateral incisors, persistent teeth, hypodontia, persistent deciduous teeth, transpositions, and supernumerary teeth. The following case report focuses on the description of the clinical characteristics observed on a patient with a very unusual conjunction of dental and skeletal anomalies mentioned above, as well as a literature review on the related issues. Extra-intra-oral examinations, radiographic evaluations, orthodontic consultation, and reviewing the literature concluded that this nonsyndromic patient that refused to receive all dental treatment approaches is special with its uniqueness.

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“…A literature review of KRT17 gene mutations in SM pedigrees was performed through searches of PubMed ( http://www.ncbi.nlm.nih.gov/pubmed/ ), Ovid Medline ( http://ovidsp.tx.ovid.com/sp-3.16.0a/ovidweb.cgi ), EMBASE databases ( http://www.embase.com ) and China National Knowledge Infrastructure ( http://www.cnki.net/ ). To the best of our knowledge, only seven types of KRT17 gene mutation in nine SM pedigrees have been reported in the literature ( 2 , 3 , 5 – 17 ) ( Table I ).…”

Section: Methodsmentioning

confidence: 99%

Steatocystoma multiplex is associated with the R94C mutation in the KRTl7 gene

Qiao

et al. 2015

Molecular Medicine Reports

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Steatocystoma multiplex (SM) is an uncommon disorder, characterized by numerous skin-colored subcutaneous cysts. A number of SM pedigrees have been identified with mutations in the keratin 17 (KRT17) gene. The present study examined a four-generation Chinese pedigree with an autosomal dominant mode of inheritance and examined its genetic basis. A review of the literature on KRT17 gene mutations in the SM pedigree was also performed to investigate the KRT17 gene mutation and genotype-phenotype correlation. Exon 1 of the KRTl7 gene was amplified using polymerase chain reaction (PCR) from genomic DNA obtained, which was obtained from 25 family members in the selected Chinese pedigree and from 100 unrelated control individuals. The DNA was then subjected to automatic DNA sequencing. Genealogical investigations demonstrated an autosomal dominant pattern, and direct sequencing of the PCR product revealed a heterozygous mutation, c.280C/T (R94C), which was located in exon 1 of the KRT17 gene in all 10 affected family members. The mutation was not identified in the 15 unaffected family members or in the 100 unrelated control individuals. Therefore, the present study identified a causative mutation in the KRT17 gene in a large Chinese SM pedigree, exhibiting autosomal dominance. A review of the literature suggested that, in addition to the mutation factor, other modifying factors contribute to the phenotype of familial SM.

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Steatocystoma multiplex, oligodontia and partial persistent primary dentition associated with a novel keratin 17 mutation

Cited by 22 publications

References 11 publications

Steatocystoma Multiplex of Scortum- Rare Genetic Disorder: A Case Report and Review of Literature

Steatocystoma Multiplex of Scortum- Rare Genetic Disorder: A Case Report and Review of Literature

Multiple tooth anomalies in a nonsyndromic patient with class II division 2 malocclusions: A case report and a literature review

Steatocystoma multiplex is associated with the R94C mutation in the KRTl7 gene

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