1997
DOI: 10.1001/archderm.133.12.1505
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A rule concerning the segmental manifestation of autosomal dominant skin disorders. Review of clinical examples providing evidence for dichotomous types of severity

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Cited by 78 publications
(92 citation statements)
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“…However, several recent reports indicate that exceptions to this rule exist. On rare occasions, the disorder may show a band-like or otherwise segmental arrangement reflecting mosaicism (4,5).…”
Section: Introductionmentioning
confidence: 99%
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“…However, several recent reports indicate that exceptions to this rule exist. On rare occasions, the disorder may show a band-like or otherwise segmental arrangement reflecting mosaicism (4,5).…”
Section: Introductionmentioning
confidence: 99%
“…According to a new genetic concept we postulated, 2 different types of segmental manifestation can be distinguished in autosomal dominant skin diseases ( Figure 1) (4,5). Type 1 reflects heterozygosity for a de novo postzygotic mutation occurring at an early stage of embryogenesis.…”
Section: Introductionmentioning
confidence: 99%
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“…MPNSTs/NF1, NF2 or schwannomatosis), the degree of involvement (generated by the supposed MPNST or (plexiform) schwannomas in the neck and thigh was very pronounced and superimposed on an ordinary trait (i.e. NF1, NF2 or schwannomatosis), thus resembling the so-called type 2 segmental manifestations of autosomal dominant traits [34,36] (i.e. a very pronounced (segmental) involvement limited to a restricted area of the body superimposed on the non-segmental phenotype vs. the type 1 segmental manifestations, which are characterised by a true mosaic/localised form of a disease) [35,64,67,68,70].…”
Section: Type 2 Segmental Manifestations Of Neurofibromatosis or Of Smentioning
confidence: 97%