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Molecular Medicine Reports Oct 2015Steatocystoma multiplex (SM) is an uncommon disorder, characterized by numerous skin‑colored subcutaneous cysts. A number of SM pedigrees have been identified with...
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.
Topics: Adult; Asian People; Base Sequence; Case-Control Studies; Exons; Female; Gene Expression; Genes, Dominant; Heterozygote; Humans; Keratin-17; Male; Molecular Sequence Data; Pedigree; Phenotype; Point Mutation; Steatocystoma Multiplex
PubMed: 26165312
DOI: 10.3892/mmr.2015.4063 -
Journal of Cosmetic and Laser Therapy :... Nov 2016Steatocystoma multiplex is a well-recognized condition in which subjects develop dermal cysts generally inherited in an autosomal dominant fashion, though these can...
Steatocystoma multiplex is a well-recognized condition in which subjects develop dermal cysts generally inherited in an autosomal dominant fashion, though these can occur sporadically. This case report describes the successful treatment of a 51-year-old woman with steatocystomata limited to the face, who after two treatments with a fractionated ablative carbon dioxide laser remained free of cysts for three years. We conclude that this treatment should be considered as an efficient and effective treatment option for patients with steatocystoma multiplex.
Topics: Carbon Dioxide; Face; Female; Humans; Laser Therapy; Middle Aged; Patient Satisfaction; Steatocystoma Multiplex; Treatment Outcome
PubMed: 27183246
DOI: 10.1080/14764172.2016.1188212 -
Biopreservation and Biobanking Aug 2016Biobanks are increasingly powerful tools used in translational research, and disease advocacy organizations (DAOs) are making their presence known as research drivers...
Biobanks are increasingly powerful tools used in translational research, and disease advocacy organizations (DAOs) are making their presence known as research drivers and partners. We examined DAO approaches to biobanking to inform how the enterprise of biobanking can grow and become even more impactful in human health. In this commentary, we outline overarching approaches from successful DAO biobanks. These lessons learned suggest principles that can create a more participant-centric approach and illustrate the key roles DAOs can play as partners in research initiatives. DAO approaches to biobanking for translational research include the following: be outcome driven; forge alliances that are unexpected-build bridges to enhance translation; come ready for success; be nimble, flexible, and adaptable; and remember that people matter. Each of these principles led to particular practices that have increased the translational impact of biobank collections. The research practices discussed can inform partnerships in all sectors going forward.
Topics: Biological Specimen Banks; Humans; Specimen Handling; Translational Research, Biomedical
PubMed: 27058463
DOI: 10.1089/bio.2015.0053 -
Acta Dermato-venereologica Jan 2015
Topics: Biopsy; Female; Genetic Predisposition to Disease; Heredity; Humans; Phenotype; Steatocystoma Multiplex; Young Adult
PubMed: 24816583
DOI: 10.2340/00015555-1890 -
Indian Journal of Dermatology,... 2020
The rationale of ideal pulse duration and pulse interval in the treatment of steatocystoma multiplex using the carbon dioxide laser in a super-pulse mode as opposed to the ultra-pulse mode.
Topics: Humans; Laser Therapy; Lasers, Gas; Male; Middle Aged; Steatocystoma Multiplex
PubMed: 32362600
DOI: 10.4103/ijdvl.IJDVL_154_19 -
Chinese Medical Journal Feb 2016
Topics: Child, Preschool; Dermoid Cyst; Eyebrows; Female; Humans; Steatocystoma Multiplex
PubMed: 26831248
DOI: 10.4103/0366-6999.174493 -
Clinical, Cosmetic and Investigational... 2024Pachyonychia congenita (PC) is a group of rare hereditary disorders, characterised by hypertrophic nails and palmoplantar keratoderma (PPK), particularly localised to...
Pachyonychia congenita (PC) is a group of rare hereditary disorders, characterised by hypertrophic nails and palmoplantar keratoderma (PPK), particularly localised to the pressure areas of the feet. At a molecular level, it is caused by mutations in genes encoding KRT6A, KRT6B, KRT6C, KRT16, or KRT17. To identify the underlying gene mutation in a Chinese family with PC presenting with disabling palmoplantar keratoderma and subsequent associated acral melanoma. Genomic DNA was extracted from peripheral blood samples of three available individuals in the Chinese family, which included the patient and his two unaffected sisters. The index patient presented with severe palmoplantar keratoderma as well as a newly diagnosed acral malignant melanoma (MM). Whole-exome sequencing (WES) was carried out with amplification of exon 1 of KRT16 by polymerase chain reaction (PCR). PCR products were then sequenced to identify potential mutations. We identified the proline substitution mutation p.Arg127Pro (c.380G>C) in our patient's 1A domain of KRT16. The same mutation was not found in his sisters or unrelated healthy controls. The mutation (p.Arg127Pro (c.380G>C)) in KRT16 has been reported in Dutch patients with PC. However, it is the first such report of a patient with a PC of Chinese origin. In addition, the acral MM occurred under the background of genetic PPK caused by KRT16 mutation in this patient.
PubMed: 38770089
DOI: 10.2147/CCID.S462273 -
Anales de Pediatria (Barcelona, Spain :... Mar 2016
Topics: Adolescent; Humans; Keratin-18; Male; Pachyonychia Congenita
PubMed: 26724900
DOI: 10.1016/j.anpedi.2015.08.002 -
Acta Dermato-venereologica Mar 2015
Topics: Cell Line; DNA Mutational Analysis; Female; Genetic Predisposition to Disease; Humans; Keratin-17; Keratinocytes; Middle Aged; Mutation; Phenotype; Polycystic Kidney, Autosomal Dominant; Polymerization; Steatocystoma Multiplex; TRPP Cation Channels; Transfection
PubMed: 25111597
DOI: 10.2340/00015555-1934