Erbliche Aplasien, Hyperplasien und Tumoren (mit Ausnahme von Gefäßtumoren)

Korn-Heydt, Gunthild Elisabeth

doi:10.1007/978-3-662-28637-1_9

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Familial Occurrence Of Multiple Nonsyndromic Basal Cell Carc1

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2000

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“…Other authors observed multiple BCC in patients who had one or several sibs with solitary BCC [Rimbaud et al, 1956; Korn‐Heydt, 1966]. However, because BCC is a very common tumor, such cases may also be explained by chance alone, and the same is true for the reports of familial solitary BCC [Spillmann and Watrin, 1935; Madsen, 1941; Oettle, 1956; Korn‐Heydt, 1966].…”

Section: Familial Occurrence Of Multiple Nonsyndromic Basal Cell Carcmentioning

confidence: 94%

Nonsyndromic type of hereditary multiple basal cell carcinoma

Happle

2000

Am. J. Med. Genet.

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An autosomal dominant phenotype characterized by multiple superficial basal cell carcinomas (BCC) without associated anomalies is postulated on the ground of the following data. There are several reports on multiple BCC occurring in two generations of a family, including male-to-male transmission. There are also three reports of a strictly unilateral manifestation of multiple superficial BCC, suggesting mosaicism. The father of one of the patients with unilateral involvement was affected with multiple disseminated BCC, which suggests a type 2 segmental manifestation in the son, reflecting loss of heterozygosity that occurred at an early stage of embryogenesis. The three cases of unilateral arrangement would be difficult to explain without the assumption that multiple nonsyndromic superficial BCC may occur as a distinct mendelian trait.

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Section: Familial Occurrence Of Multiple Nonsyndromic Basal Cell Carcmentioning

confidence: 94%