Multiple Pilomatricomas and Myotonic Dystrophy

Street, Marcy L.; Rogers, Roy S.

doi:10.1111/j.1524-4725.1991.tb03426.x

Cited by 21 publications

(10 citation statements)

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“…Pilomatricoma usually appears as an asymptomatic (it is associated with pain only in cases of inflammation and ulceration) deeply seated, firm, nontender, subcutaneous mass and adherent to skin but not fixed to underlying tissue. Stretching the skin over the tumour may show the ''tent sign'', with multiple facets and angles [35]. A characteristic feature of pilomatricoma is the blue-red discolouration of the skin which allows us to exclude the possibility of the existence of epidermal inclusion and dermoid cysts.…”

Section: Discussionmentioning

confidence: 99%

Pilomatricoma in childhood: a retrospective study from three European paediatric centres

et al. 2005

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Section: Discussionmentioning

confidence: 99%

Pilomatricoma in childhood: a retrospective study from three European paediatric centres

et al. 2005

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“…Pilomatricomas (or calcifying epitheliomas of Malherbe) are benign epithelial neoplasms with hair cell derivation and differentiation, frequently occurring in the first two decades of life, mostly on the upper part of the body (13,16,17). They may have familial occurrence, and the association of familial pilomatricomas with myotonic dystrophy, an autosomal dominant disorder with peculiar transmis- sion, is weil known (18)(19)(20)(21). Six reports in the world literature describe the familial piiomatricomas in otherwise healthy persons (16,(22)(23)(24)(25).…”

Section: Discussionmentioning

confidence: 99%

Multiple Pilomatricomas in Rubinstein‐Taybi Syndrome; A Case Report

Cambiaghi

Ermacora

Brusasco

et al. 1994

Pediatric Dermatology

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Rubinstein-Taybi syndrome is a multisystem developmental disorder due to an autosomal dominant mutation. It is clinically defined by the presence of peculiar facies, mental retardation, and broad thumbs and first toes. Important dermatologic findings include hirsutism, keloids, hemangiomas, and dermatoglyphic abnormalities. We report a 12-year-old girl with the typical phenotype of Rubinstein-Taybi syndrome, associated with numerous pilomatricomas. These are benign epithelial neoplasms with hair cell differentiation that may have a familial transmission. Pilomatricomas have not been reported in patients with Rubinstein-Taybi syndrome, although their association with myotonic dystrophy, another autosomal dominant disorder, is well known. Possibilities to explain the association include contiguous gene syndrome, the action of a pleiotropic gene, predisposition to malformations, and mere coincidence.

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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.

830

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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Multiple Pilomatricomas and Myotonic Dystrophy

Cited by 21 publications

References 10 publications

Pilomatricoma in childhood: a retrospective study from three European paediatric centres

Pilomatricoma in childhood: a retrospective study from three European paediatric centres

Multiple Pilomatricomas in Rubinstein‐Taybi Syndrome; A Case Report

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.

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