| Autor: |
María del Carmen, Boente, Graciela, Nadra, Raúl, Asial, Rudolf, Happle |
| Rok vydání: |
2008 |
| Předmět: |
|
| Zdroj: |
Dermatology (Basel, Switzerland). 219(2) |
| ISSN: |
1421-9832 |
| Popis: |
A pronounced linear eruption with ulcerations and calcium extrusion present in a boy with a mild generalized rash clinically consistent with juvenile dermatomyositis or overlap syndrome is reported. Loss of heterozygosity (LOH) is a postzygotic mechanism by which a heterozygous somatic cell may become homozygous or hemizygous at a given gene locus. Such a mechanism can be suspected when a pronounced segmental manifestation of an acquired skin condition with a polygenic background is found to be superimposed on more or less symmetrically distributed nonsegmental lesions of the same disorder. Alternatively, such a segmental manifestation may reflect heterozygosity for a postzygotic mutation involving an additional gene locus. The severe linear lesions in our patient showed a Blaschko-linear arrangement and were superimposed on mild nonsegmental lesions of either amyopathic dermatomyositis or overlap syndrome. Either LOH or a postzygotic mutation at an additional gene locus may explain the pronounced linear involvement. |
| Databáze: |
OpenAIRE |
| Externí odkaz: |
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