| Autor: |
Yehonatan, Kaplan, Ofer, Sarig, Tom, Rabinowitz, Janan, Mohamad, Noam, Shomron, Eli, Sprecher, Ilan, Goldberg |
| Rok vydání: |
2020 |
| Předmět: |
|
| Zdroj: |
Harefuah. 159(1) |
| ISSN: |
0017-7768 |
| Popis: |
Mycosis fungoides (MF) is the most common type of primary cutaneous T cell lymphoma. Many clinicopathological variants of MF have been described in the literature, though only a few presented in a segmental pattern. There are several unique patterns of distribution of skin diseases, one of which is the Blaschko Lines. Congenital skin diseases develop in a Blaschkoid pattern due to mosaicism. In contrast, according to Happle, the development of acquired skin diseases in a similar pattern is explained by superimposed segmental manifestation - a process which involves mosaicism overlapping a preexisting congenital mutation. The theories by which previous case reports explained the segmental appearance of MF did not cover the molecular basis for their development. We report a case of a patient who presented with MF in a unique segmental distribution consistent with the Blaschko lines. The patient was found to have an acquired mosaic mutation in GNAS gene exclusively in the involved skin which represents a superimposed segmental manifestation according to Happle's theory. This case demonstrates the hidden potential of these rare cases which allows a better understanding of the pathogenesis by which acquired diseases develop. This is a basis for further research that could help identify new therapeutic targets for MF and other diseases that share its genetic etiology. |
| Databáze: |
OpenAIRE |
| Externí odkaz: |
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