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

Liu Q, Wu W, Lu J, Wang P, Qiao F - Mol Med Rep (2015)

Bottom Line: 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.

View Article: PubMed Central - PubMed

Affiliation: Department of Dermatology, Hainan Provincial Hospital of Skin Disease, Haikou, Hainan 570206, P.R. China.

ABSTRACT
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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Four generation pedigree (I–IV) of the family comprising a number of individuals affected with SM. The squares indicate male family members and the circles indicate female family members. Black symbols indicate individuals exhibiting symptoms of SM, whereas white symbols indicate healthy, unaffected individuals. The proband (III-13) in the present study is indicated by an arrow. * indicates individuals from whom DNA was not obtained. SM, steatocystoma multiplex.
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f1-mmr-12-04-5072: Four generation pedigree (I–IV) of the family comprising a number of individuals affected with SM. The squares indicate male family members and the circles indicate female family members. Black symbols indicate individuals exhibiting symptoms of SM, whereas white symbols indicate healthy, unaffected individuals. The proband (III-13) in the present study is indicated by an arrow. * indicates individuals from whom DNA was not obtained. SM, steatocystoma multiplex.

Mentions: A four-generation Chinese SM pedigree with an autosomal dominant mode of inheritance was examined. The genealogical tree of this SM pedigree is shown in Fig. 1. The proband (III-13) was a 26-year-old male of Chinese Han-nationality, with the symptom of a gradual appearance of multiple skin-colored nodules on his whole body for >20 years. The lesions gradually developed in size and number at infancy, and became severe and obvious during puberty. The lesions were asymptomatic, however, were of cosmetic concern. When punctured, the cysts discharged yellowish, oily material and healed with a scar. The proband was in good general health and his routine laboratory investigations were within normal limits. On physical examination, multiple, skin-colored, firm, globoid nodules, measuring between 2 and 30 mm in diameter on the face, neck, chest, abdomen, arms and legs of the proband were identified (Fig. 2). The nail, palmoplantar areas, mouth, tongue and teeth were all normal. Histological examination of these lesions revealed that the cyst wall was composed of several layers of epithelial cells, accompanied by sebaceous gland lobules (Fig. 3). On the basis of these findings, the diagnosis of SM was made. Another nine affected members of his family reported a similar history, namely, his grandfather (I-1), father (II-3), uncle (II-9), three sisters (III-12,16,17), two nieces and one nephew (IV-23,24,25). None of these affected individuals exhibited any nail changes or any other skin, hair or mucosal abnormalities. The conditions of the patients varied and the condition of the female patients were comparatively milder in this family. The remaining members of this family had no history of SM.


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

Liu Q, Wu W, Lu J, Wang P, Qiao F - Mol Med Rep (2015)

Four generation pedigree (I–IV) of the family comprising a number of individuals affected with SM. The squares indicate male family members and the circles indicate female family members. Black symbols indicate individuals exhibiting symptoms of SM, whereas white symbols indicate healthy, unaffected individuals. The proband (III-13) in the present study is indicated by an arrow. * indicates individuals from whom DNA was not obtained. SM, steatocystoma multiplex.
© Copyright Policy - open-access
Related In: Results  -  Collection

License
Show All Figures
getmorefigures.php?uid=PMC4581757&req=5

f1-mmr-12-04-5072: Four generation pedigree (I–IV) of the family comprising a number of individuals affected with SM. The squares indicate male family members and the circles indicate female family members. Black symbols indicate individuals exhibiting symptoms of SM, whereas white symbols indicate healthy, unaffected individuals. The proband (III-13) in the present study is indicated by an arrow. * indicates individuals from whom DNA was not obtained. SM, steatocystoma multiplex.
Mentions: A four-generation Chinese SM pedigree with an autosomal dominant mode of inheritance was examined. The genealogical tree of this SM pedigree is shown in Fig. 1. The proband (III-13) was a 26-year-old male of Chinese Han-nationality, with the symptom of a gradual appearance of multiple skin-colored nodules on his whole body for >20 years. The lesions gradually developed in size and number at infancy, and became severe and obvious during puberty. The lesions were asymptomatic, however, were of cosmetic concern. When punctured, the cysts discharged yellowish, oily material and healed with a scar. The proband was in good general health and his routine laboratory investigations were within normal limits. On physical examination, multiple, skin-colored, firm, globoid nodules, measuring between 2 and 30 mm in diameter on the face, neck, chest, abdomen, arms and legs of the proband were identified (Fig. 2). The nail, palmoplantar areas, mouth, tongue and teeth were all normal. Histological examination of these lesions revealed that the cyst wall was composed of several layers of epithelial cells, accompanied by sebaceous gland lobules (Fig. 3). On the basis of these findings, the diagnosis of SM was made. Another nine affected members of his family reported a similar history, namely, his grandfather (I-1), father (II-3), uncle (II-9), three sisters (III-12,16,17), two nieces and one nephew (IV-23,24,25). None of these affected individuals exhibited any nail changes or any other skin, hair or mucosal abnormalities. The conditions of the patients varied and the condition of the female patients were comparatively milder in this family. The remaining members of this family had no history of SM.

Bottom Line: 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.

View Article: PubMed Central - PubMed

Affiliation: Department of Dermatology, Hainan Provincial Hospital of Skin Disease, Haikou, Hainan 570206, P.R. China.

ABSTRACT
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.

Show MeSH
Related in: MedlinePlus