Multiple pilomatricomas in association with myotonic dystrophy and a family history of melanoma

Berberian, Brenda J.; Colonna, Todd M.; Battaglia, Mary; Sulica, V.I.

doi:10.1016/s0190-9622(97)80138-7

Cited by 31 publications

(17 citation statements)

References 11 publications

Supporting

Mentioning

Contrasting

Order By: Relevance

“…In our review of the literature (Table 1), we have identified 35 published cases, with multiple pilomatricomas present in 31 (89%) individuals [17–42]. In four families, multiple family members had both pilomatricoma and DM.…”

Section: Neoplasms In Dmmentioning

confidence: 99%

Hypothesis: neoplasms in myotonic dystrophy

Mueller

Hilbert

Martens

et al. 2009

Cancer Causes Control

View full text Add to dashboard Cite

Tumorigenesis is a multi-step process due to an accumulation of genetic mutations in multiple genes in diverse pathways which ultimately lead to loss of control over cell growth. It is well known that inheritance of rare germline mutations in genes involved in tumorigenesis pathways confer high lifetime risk of neoplasia in affected individuals. Furthermore, a substantial number of multiple malformation syndromes include cancer susceptibility in their phenotype. Studies of the mechanisms underlying these inherited syndromes have added to the understanding of both normal development and the pathophysiology of carcinogenesis. Myotonic dystrophy (DM) represents a group of autosomal dominant, multisystemic diseases that share the clinical features of myotonia, muscle weakness, and early-onset cataracts. Myotonic dystrophy type 1 (DM1) and myotonic dystrophy type 2 (DM2) result from unstable nucleotide repeat expansions in their respective genes. There have been multiple reports of tumors in individuals with DM, most commonly benign calcifying cutaneous tumors known as pilomatricomas. We provide a summary of the tumors reported in DM and a hypothesis for a possible mechanism of tumorigenesis. We hope to stimulate further study into the potential role of DM genes in tumorigenesis, and help define DM pathogenesis, and facilitate developing novel treatment modalities.

show abstract

Section: Neoplasms In Dmmentioning

confidence: 99%

Hypothesis: neoplasms in myotonic dystrophy

Mueller

Hilbert

Martens

et al. 2009

Cancer Causes Control

View full text Add to dashboard Cite

show abstract

“…It is more common at a young age, especially in the first two decades of life, with an onset below 10 years in 40% of cases [4,5]. Although multiple localizations have been described in literature [6,7], PM occurs as a solitary lesion on the face (47% of cases), neck [8] and upper trunk and can be associated to other diseases, e.g.…”

Section: Introductionmentioning

confidence: 99%

“…Although multiple localizations have been described in literature [6,7], PM occurs as a solitary lesion on the face (47% of cases), neck [8] and upper trunk and can be associated to other diseases, e.g. Steinert's Myotonic Dystrophy and Gardner Syndrome [4,7,9,10]. …”

Section: Introductionmentioning

confidence: 99%

Epithelioma of Malherbe: new ultrasound patterns

Solivetti

Elia

Drusco

et al. 2010

J Exp Clin Cancer Res

View full text Add to dashboard Cite

BackroundCalcifying epithelioma of Malherbe, or Pilomatricoma, is considered an uncommon cutaneous neoplasia, normally occurring in children as a solitary, firm, asymptomatic, hard, subcutaneous, slowly growing nodule on the face, neck, or proximal upper extremity. In literature, two Pilomatricoma ultrasound patterns are described: the totally calcified nodule and the hypoechoic nodule with internal calcific foci. High frequency ultrasound has not yet been applied for routine diagnosis of Pilomatricoma. The aim of the study was to retrospectively identify specific ultrasound features.MethodsWe retrieved 124 histologically Pilomatricoma cases: 28 patients with 32 lesions were preoperatively evaluated with ultrasound.Results22/32 have shown a solid formation, hypoechoic, with a sharp outline. Of these 22, 10 lesions were completely calcifying and 12 partially calcified. In 3/32 lesions with uncertain diagnosis, ultrasounds showed a complex/mixed pattern with pseudo-fluid areas and microspots. 7/32 lesions with US different diagnosis included 3 complex lesions, 2 cystic lesions and 2 solid nodular lesions.ConclusionIn addition to well-known ultrasound patterns (completely calcified and partially calcified) we identified three new, not yet described, patterns that constitute the 31% of the cases: complex, pseudocistyc and pseudotumoral.

show abstract

“…The most common site of involvement is the head and neck [7,21,22]. Multiple pilomatricomas can be associated with myotonic dystrophy, GS, or Turner and Rubinstein-Taybi syndromes [4][5][6][23][24][25]. At the molecular level, pilomatricomas demonstrate activating mutations of CTNNB1 (b-catenin gene) [26,27].…”

Section: Discussionmentioning

confidence: 99%

Orthokeratinized Odontogenic Cyst with an Associated Keratocystic Odontogenic Tumor Component and Ghost Cell Keratinization and Calcifications in a Patient with Gardner Syndrome

Argyris

Koutlas

2016

Head and Neck Pathol

View full text Add to dashboard Cite

Gardner syndrome (GS) is caused by mutations in the APC and besides adenomatous colorectal polyps includes such manifestations as osteomas, epidermoid cysts (ECs) and occasionally multiple pilomatricomas. More than 50 % of ECs in patients with GS exhibit pilomatricoma-like ghost cell keratinization. The latter may be explained by the fact that the development of both GS and pilomatricoma is driven by activation of the Wnt/b-catenin signaling pathway. A 62-year-old, Caucasian male with history of GS presented with a unilocular, mixed radiopaque/radiolucent mandibular lesion causing divergence and external root resorption of involved teeth. Histopathologically, the lesion was composed of two cystic components, an orthokeratinized odontogenic cyst (OOC) and a smaller one with characteristics of keratocystic odontogenic tumor (KCOT) featuring, focally, ghost cells and an epithelial morule-like structure. Dystrophic calcifications essentially similar to those seen in pilomatricomas were observed in the fibrous connective tissue wall. The KCOT and OOC epithelia revealed strong and diffuse cytokeratin (AE1/AE3) and b-catenin immunoreactivity. CD10 positive immunostaining was seen in the keratin and superficial spinous cell layers in both OOC and KCOT. The intraepithelial and mural ghost cells showed a cytokeratin (?), b-catenin and CD10 (-) immunophenotype. The diagnosis of OOC with ghost cell calcifications in association with KCOT was rendered. The patient was lost to follow-up. Although a coincidental co-existence cannot be excluded, ghost cell calcifications mimicking pilomatricoma-like changes in an unusual odontogenic cyst combining OOC and KCOT features as seen in this patient with GS may be explained by the common molecular mechanisms underlying the pathogenesis of cutaneous pilomatricomas and GS.

show abstract

Multiple pilomatricomas in association with myotonic dystrophy and a family history of melanoma

Cited by 31 publications

References 11 publications

Hypothesis: neoplasms in myotonic dystrophy

Hypothesis: neoplasms in myotonic dystrophy

Epithelioma of Malherbe: new ultrasound patterns

Orthokeratinized Odontogenic Cyst with an Associated Keratocystic Odontogenic Tumor Component and Ghost Cell Keratinization and Calcifications in a Patient with Gardner Syndrome

Contact Info

Product

Resources

About