Giant pilomatricoma and psoriasis vulgaris with myotonic dystrophy

Nakai, Kozo; Yoneda, Kozo; Maeda, Reiko; Yokoi, Isao; Fujita, Nobuko; Munehiro, Asuka; Moriue, Tetsuya; Kubota, Yasuo

doi:10.1684/ejd.2009.0713

Cited by 7 publications

(5 citation statements)

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“…However, we did not observe statistical evidence of an increased risk of these cancers. Several studies have reported benign neoplasms observed in patients with myotonic dystrophy, especially pilomatricomas 22,23 and thymoma, [24][25][26][27][28][29] but data on benign neoplasms were not available in our patients with myotonic dystrophy to quantify their risks.…”

Section: Discussionmentioning

confidence: 99%

Increased Cancer Risks in Myotonic Dystrophy

Win

Perattur

Pulido

et al. 2012

Mayo Clinic Proceedings

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Section: Discussionmentioning

confidence: 99%

Increased Cancer Risks in Myotonic Dystrophy

Win

Perattur

Pulido

et al. 2012

Mayo Clinic Proceedings

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“…An association between pilomatricoma and some genetic conditions has been suggested, with tumorigenesis linked to genes responsible for these genetic conditions via beta-catenin regulation in the Wnt signaling pathways. A number of patients with pilomatricoma(s) in the presence of concurrent genetic conditions have been reported, including Gardner syndrome [ 2 – 4 ], Rubinstein-Taybi syndrome [ 5 – 10 ], myotonic dystrophy [ 11 – 16 ], Turner syndrome [ 17 – 22 ], Kabuki syndrome [ 23 , 24 ], tuberous sclerosis [ 25 , 26 ], constitutive mismatch repair deficiency [ 27 ], Sotos syndrome [ 28 , 29 ], neurofibromatosis I [ 30 ], Stickler syndrome [ 22 ], MYH-associated polyposis [ 31 ], partial trisomy 9 [ 32 ], and tetrasomy 9p syndrome [ 33 , 34 ]. The CTNNB1 gene (OMIM∗116806) on chromosome 3p22.1 encodes beta-catenin, a 92 kD cytoplasmic protein that plays an important role in the creation and maintenance of epithelial cell layers by regulating cell growth and adhesion between cells.…”

Section: Introductionmentioning

confidence: 99%

“…Kabuki syndrome [23,24], tuberous sclerosis [25,26], constitutive mismatch repair deficiency [27], Sotos syndrome [28,29], neurofibromatosis I [30], Stickler syndrome [22], MYH-associated polyposis [31], partial trisomy 9 [32], and tetrasomy 9p syndrome [33,34]. The CTNNB1 gene (OMIM * 116806) on chromosome 3p22.1 encodes betacatenin, a 92 kD cytoplasmic protein that plays an important role in the creation and maintenance of epithelial cell layers by regulating cell growth and adhesion between cells.…”

Section: Introductionmentioning

confidence: 99%

No Evidence of Abnormal Expression of Beta-Catenin and Bcl-2 Proteins in Pilomatricoma as One Clinical Feature of Tetrasomy 9p Syndrome

Charalsawadi

Trongnit

Jaruthamsophon

et al. 2021

International Journal of Pediatrics

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Background. Little is currently known about the genetics of pilomatricoma. A number of studies have reported some evidence that this disease may have a genetic association with mutations of CTNNB1 gene or expression of the beta-catenin protein. In this study, we reviewed literatures involving 30 patients with various genetic syndromes that have been linked to pilomatricoma and found that somatic mutations of the CTNNB1 gene were reported in 67% of patients. Pilomatricoma has been reported in patients with chromosome 9 rearrangements, including 4 patients with tetrasomy 9p syndrome and one patient with partial trisomy 9. In addition to beta-catenin, the expression of bcl2 was observed in pilomatricoma. Objectives. To report an additional case of tetrasomy 9p syndrome with concurrent pilomatricoma and to examine whether abnormal protein expressions of the CTNNB1 and/or BCL2 genes were present. Methods. Cytogenetic analysis was carried out on peripheral blood, biopsied skin, and pilomatricoma tissue obtained from a patient with tetrasomy 9p syndrome. Immunohistochemical staining was performed on the pilomatricoma tissue, using beta-catenin and bcl2 monoclonal antibodies. Results. SNP microarray revealed nonmosaic gain of the short arm of chromosome 9. A nonmosaic isodicentric chromosome 9 was identified in the peripheral blood but this rearranged chromosome was detected in only 8.3% of the skin fibroblasts. Chromosomal abnormalities were not detected in the pilomatricoma nor expression of beta-catenin or bcl2 proteins in our patient. Conclusion. Pilomatricoma could be a new clinical feature associated with tetrasomy 9p syndrome; however, we found no evidence of tetrasomy 9p or abnormal beta-catenin or bcl2 proteins of the CTNNB1 and BCL2 genes in our pilomatricoma patient.

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“…Sehr geehrte Herausgeber, ein Pilomatrixom ist ein gutartiger Hauttumor, der typischerweise als subkutaner Knoten, mit einer Größe zwischen 0,5 und 3 cm, an Kopf, Nacken oder den oberen Extremitäten auftritt [ [2,3]. Der Tumor wird häufig bei Kindern beobachtet; mehr als 60 % der Fälle treten während der ersten beiden Lebensdekaden auf [1,2]. Ungewöhnliche klinisch-pathologische Varianten des Pilomatrixoms wurden berichtet, wie bullös, anetodermisch, exophytisch, perforierend/ulzerierend, riesig und lymphangiekatisch [4].…”

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