Clinical manifestations in 105 persons with nevoid basal cell carcinoma syndrome

Kimonis, Virginia; Goldstein, Alisa M.; Pastakia, Behram; Yang, Michelle; Kase, Ronald G.; DiGiovanna, John J.; Bale, Allen E.; Bale, Sherri J.

doi:10.1002/(sici)1096-8628(19970331)69:3<299::aid-ajmg16>3.0.co;2-m

Cited by 785 publications

(322 citation statements)

References 39 publications

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“…So erkranken etwa 5% der Patienten im Kindesalter an einem Medulloblastom des Kleinhirns [12,16]. Die gängige Therapie dieses hochmalignen Tumors umfasst neben der Operation und Chemotherapie eine kraniospinale Bestrahlung, die aufgrund der bei Patienten mit nävoidem Basalzellkarzinomsyndrom erhöhten Radio- …”

Section: Hereditary Tumor Syndromes Cutaneous Manifestations and Molunclassified

“…Ebenso müssen ionisierende Strahlen vermieden werden. Dieses gilt nach Mög-lichkeit auch für diagnostische Verfahren [12,16]. Eine kausale medikamentöse Therapie der Basalzellkarzinome ist momentan noch nicht möglich.…”

Section: Therapieunclassified

“…Die häufigsten benignen Tumoren sind Ovarialfibrome, die zumeist in der Adoleszenz manifest werden. Kimonis et al[16] stellten die in . Tabelle 2 aufgeführten Haupt-und Nebenkriterien zur Diagnose des nävoiden Basalzellkarzinomsyndroms auf.…”

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Heredit�re Tumorsyndrome

Reifenberger

2004

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Several hereditary tumor syndromes are associated with characteristic skin lesions which may facilitate an early diagnosis. We summarize clinical features and recent progress in understanding the etiology and pathogenesis of two selected tumor syndromes, namely nevoid basal cell carcinoma syndrome (Gorlin syndrome) and Cowden syndrome. Both are autosomal dominantly inherited disorders. Nevoid basal cell carcinoma syndrome is characterized by the early onset of multiple basal cell carcinomas as as well as developmental defects and a predisposition for other benign and malignant tumors. The syndrome is caused by germline mutations in the PTCH tumor suppressor gene. Cowden syndrome is associated with pathognomonic mucocutaneous lesions, such as facial trichilemmomas, acral keratoses, and mucocutaneous papillomatosis. In addition, Cowden patients are predisposed to carcinomas of the thyroid, breast and endometrium. Cowden syndrome is caused by germline mutations in the PTEN tumor suppressor gene. Identification of the genes causing hereditary tumor syndromes as well as generation of genetically engineered mouse models have greatly advanced our understanding of the molecular pathogenesis of these diseases. Furthermore, novel pathogenesis-based pharmacological strategies are being developed that promise to improve prevention and therapy.

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Section: Hereditary Tumor Syndromes Cutaneous Manifestations and Molunclassified

Section: Therapieunclassified

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Heredit�re Tumorsyndrome

Reifenberger

2004

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“…Während das Vorkommen von Rippenanomalien (Gabelung, Verschmelzung) in der Normalbevölkerung mit 3-6,2/1.000 beschrieben ist [14], werden sie bei Patienten mit BZNS mit einer Häufigkeit bis 45% angegeben [18].…”

Section: Diskussionunclassified

Hexadaktylie an Hand und Fuß bei einem Patienten mit Basalzellnävussyndrom

et al. 2002

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A 35-year-old male patient with hexadactyly on the right hand and both feet presented with multiple basal cell carcinomas of the skin. The results of further investigations led to the diagnosis of basal cell nevus syndrome (BCNS). The basal cell nevus syndrome (Gorlin-Goltz syndrome) characterized by multiple basal cell carcinomas, odontogenic cysts, skeletal abnormalities and associated neoplasms belongs to the group of genodermatoses. Reviewing the current literature we discuss aspects of the pathogenesis of the basal cell nevus syndrome as well as diagnosis criteria and treatment options.

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“…Okuläre Symptome sind Katarakte und Strabismus. Zu den häufigsten benignen und malignen Tumoren zählen Ovarialfibrome und Medulloblastome[15].Abb. 1 8 Basalzellkarzinome im Rahmen hereditärer Syndrome.…”

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Basalzellkarzinom

Reifenberger

2007

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Basal cell carcinoma is the most common human cancer. Its incidence is steadily increasing. The development of basal cell carcinoma is linked to genetic factors, including the individual skin phototype, as well as the cumulative exposure to UVB. The vast majority of basal cell carcinomas are sporadic tumors, while familial cases associated with certain hereditary syndromes are less common. At the molecular level, basal cell carcinomas are characterized by aberrant activation of sonic hedgehog signaling, usually due to mutations either in the ptch or smoh genes. In addition, about half of the cases carry mutations in the tp53 tumor suppressor gene, which are often UVB-associated C-->T transition mutations. Clinically, basal cell carcinomas may show a high degree of phenotypical variability. In particular, tumors occurring in atypical locations, showing an unusual clinical appearance, or imitating other skin diseases may cause diagnostic problems. This review article summarizes the current state of the art concerning the etiology, predisposition and molecular genetics of basal cell carcinoma. In addition, examples of unusual clinical manifestations are illustrated.

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Clinical manifestations in 105 persons with nevoid basal cell carcinoma syndrome

Cited by 785 publications

References 39 publications

Heredit�re Tumorsyndrome

Heredit�re Tumorsyndrome

Hexadaktylie an Hand und Fuß bei einem Patienten mit Basalzellnävussyndrom

Basalzellkarzinom

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