Giant pilomatricoma in a patient with tuberous sclerosis, both diagnosed in the adult life

Resende, Cristina; Gomes, José Álvaro Pereira; Duarte, Maria da Luz; Brito, Celeste

doi:10.1136/bcr-2013-010382

Cited by 5 publications

(4 citation statements)

References 10 publications

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“…Pilomatrixoma is only rarely diagnosed in the phacomatoses: A report describes the diagnosis of a pilomatrixoma associated with the initial diagnosis of tuberous sclerosis (14). Another report is on the diagnosis of pilomatrixoma associated with a case of multiple epidermal nevi (15).…”

Section: Discussionmentioning

confidence: 99%

Pilomatrixoma of the Neck/Shoulder Region Mimicking a Rapidly Growing Neoplasm of Peripheral Nerve Sheath Origin in Neurofibromatosis Type 1

Friedrich

Schüller

Hagel

2017

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Neurofibromatosis type 1 (NF1) is an autosomal dominant hereditary disorder. Neurofibroma is the most common neoplasm of this disease. This lesion is characterized by circumscribed soft or knotty skin tumors derived from peripheral nerve sheath cells. Numerous other neoplasms have been described for this tumor predisposition syndrome. This case report adds the diagnostic and therapeutic procedures in the case of an NF1 patient in whom the rapidly growing, nodular, subcutaneous tumor initially led to the suspicion of a malignant neoplasm. The tumor proved to be pilomatrixoma, which closely adhered to a neurofibroma.

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Section: Discussionmentioning

confidence: 99%

Pilomatrixoma of the Neck/Shoulder Region Mimicking a Rapidly Growing Neoplasm of Peripheral Nerve Sheath Origin in Neurofibromatosis Type 1

Friedrich

Schüller

Hagel

2017

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“…Tuberous sclerosis is a disorder involving the formation of hamartomas in multiple organ systems, particularly in the brain, skin, heart, lungs, and kidney (Nguefack et al, 2012;Resende et al, 2013). Studies have identified the TSC1 gene, located on 9q34 (Fryer et al, 1987), as the etiological culprit in this disease.…”

Section: The Structure and Activity Of Hamartinmentioning

confidence: 99%

Hamartin: An Endogenous Neuroprotective Molecule Induced by Hypoxic Preconditioning

Ren

Stone

et al. 2020

Front. Genet.

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Hypoxic/ischemic preconditioning (HPC/IPC) is an innate neuroprotective mechanism in which a number of endogenous molecules are known to be involved. Tuberous sclerosis complex 1 (TSC1), also known as hamartin, is thought to be one such molecule. It is also known that hamartin is involved as a target in the rapamycin (mTOR) signaling pathway, which functions to integrate a variety of environmental triggers in order to exert control over cellular metabolism and homeostasis. Understanding the role of hamartin in ischemic/hypoxic neuroprotection will provide a novel target for the treatment of hypoxic-ischemic disease. Therefore, the proposed molecular mechanisms of this neuroprotective role and its preconditions are reviewed in this paper, with emphases on the mTOR pathway and the relationship between the expression of hamartin and DNA methylation.

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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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Giant pilomatricoma in a patient with tuberous sclerosis, both diagnosed in the adult life

Cited by 5 publications

References 10 publications

Pilomatrixoma of the Neck/Shoulder Region Mimicking a Rapidly Growing Neoplasm of Peripheral Nerve Sheath Origin in Neurofibromatosis Type 1

Pilomatrixoma of the Neck/Shoulder Region Mimicking a Rapidly Growing Neoplasm of Peripheral Nerve Sheath Origin in Neurofibromatosis Type 1

Hamartin: An Endogenous Neuroprotective Molecule Induced by Hypoxic Preconditioning

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

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