Pilomatricomas associated with myotonic dystrophy

Chiaramonti, A.

doi:10.1001/archderm.114.9.1363

Cited by 35 publications

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“…Haper [7] reported the first case of a familial occurrence of both diseases in 1971, stressing that the condition was not merely a coincidence but related to both diseases. Chiaramonti and Gilgor [2] supported their idea and suggested that patients with myotonic dystrophy have a predisposition to pilomatricomas.…”

Section: Introductionmentioning

confidence: 92%

Pilomatricomas: Association with Myotonic Dystrophy

Aso¹,

Shimao²,

Takahashi³

1981

Dermatology

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Section: Introductionmentioning

confidence: 92%

Pilomatricomas: Association with Myotonic Dystrophy

Aso¹,

Shimao²,

Takahashi³

1981

Dermatology

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“…At least 18 myotonic dystrophy patients have been described with pilomatrixomas, tumors arising from hair follicle cells (Cantwell and Reed 1965;Kopeloff et al 1992). Multiple pilomatrixomas, very rare in the general population, have been described in dystrophic individuals and in their otherwise asymptomatic relatives (Harper 1971;Chiaramonti and Gilgor 1978;Street and Rogers 1991;Kopeloff et al 1992). Myotonic dystrophy patients have also been described with neuroendocrine tumors of neural crest origin (Reimund et al 1992) including neurofibromatosis (Kissel and Amould 1954;Ichikawa et al 1981;Rosenberg et al 1988), multiple endocrine adenomatosis type 2A (Rosenberg et al 1988), parathyroid adenomas (Harada et al 1987), and multiple carcinoid tumors of the small bowel (Reimund et al 1992).…”

Section: Genes and Developmentmentioning

confidence: 99%

The Drosophila tumor suppressor gene warts encodes a homolog of human myotonic dystrophy kinase and is required for the control of cell shape and proliferation.

Justice

Zilian²,

Woods³

et al. 1995

Genes Dev.

828

626

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Homozygous loss of the warts (wts) gene of Drosophila, caused by mitotic recombination in somatic cells, leads to the formation of cell clones that are fragmented, rounded, and greatly overgrown compared with normal controls. Therefore, the gene is required for the control of the amount and direction of cell proliferation as well as for normal morphogenesis. The absence of wts function also results in apical hypertrophy of imaginal disc epithelial cells. Secretion of cuticle over and between the domed apical surfaces of these cells leads to a honeycomb-like structure and gives the superficial wart-like phenotype of mitotic clones on the adult. One wts allele allows survival of homozygotes to the late larval stage, and these larvae show extensive imaginal disc overgrowth. Because of the excess growth and abnormalities of differentiation that follow homozygous loss, we consider wts to be a tumor suppressor gene. The wts gene is defined by the breakpoints of overlapping deficiencies in the right telomeric region of chromosome 3, region 100A, and by lethal P-element insertions and excisions. It encodes a protein kinase that is most similar to human myotonic dystrophy kinase, the Neurospora cot-1 protein kinase, two cell-cycle regulated kinases of yeast, and several putative kinases from plants. These proteins define a new subfamily of protein kinases that are closely related to but distinct from the cyclic AMP-dependent kinases. Although myotonic dystrophy is defined by a neuromuscular disorder, it is sometimes associated with multiple pilomatrixomas, which are otherwise rare epithelial tumors, and with other tumors including neurofibromas and parathyroid adenomas. Our results raise the possibility that homozygous loss of the myotonic dystrophy kinase may contribute to the development of these tumors.[Key Words: Tumor suppressor genes; myotonic dystrophy; epithelia; protein kinases; Drosophila] Received November 24, 19941 revised version accepted January 27, 1995.The origin and progression of human tumors involves a series of genetic changes including the activation of oncogenes and the loss or inactivation of tumor suppressor genes (Schmandt and Mills 19931. The importance of tumor suppressor genes is now well recognized with the molecular identification of many of them and the demonstration of normal allele loss in many types of tumors (Knudson 1993). The products of tumor suppressor genes include cell adhesion proteins, signal transduction molecules, transcription factors, and molecules involved in the control of the cell cycle and of apoptotic cell death (Knudson 1993). 3This work resulted from an equal contribution by these authors.

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“…The association of the following tumors with MyDhas been reported: pilomatricoma, parathyroid adenoma, neurofibromatosis and intestinal carcinoid tumor (15)(16)(17)(18)(19)(20)(21). Because the number of CTGrepeats in the tumors is higher than that of other normal tissues, as in our patient, it may be possible to attribute the instability to the processes of DNAstrand misalignment described by Wooster et al in non MyDcases (22).…”

Section: Discussionmentioning

confidence: 99%

Myotonic Dystrophy Associated with Insulinoma.

et al. 1999

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Wedescribe a 51-year-old man with myotonic dystrophy (MyD) associated with insulinoma. In addition to the typical symptomsof MyD,he showedhypoglycemicattacks after meals. The radiological examination and selective blood sampling revealed an insulinoma in the head of the pancreas. The tumor was resected and histopathologically diagnosed as an insulinoma. In Southern blot analysis, CTGrepeat of the myotonin protein kinase gene in the insulinoma showed the longest expansion, followed by normal tissue of the pancreas, muscle and white blood cells. Therefore, microsatellite instability was the most prominent in the tumor cells. (Internal Medicine 38: 504-506, 1999)

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Pilomatricomas associated with myotonic dystrophy

Cited by 35 publications

References 0 publications

Pilomatricomas: Association with Myotonic Dystrophy

Pilomatricomas: Association with Myotonic Dystrophy

The Drosophila tumor suppressor gene warts encodes a homolog of human myotonic dystrophy kinase and is required for the control of cell shape and proliferation.

Myotonic Dystrophy Associated with Insulinoma.

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