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Phacomatosis Pigmentokeratotica: Case Study

Background. Phacomatosis pigmentokeratotica (PPK) is an orphan genodermatosis from the epidermal nevus syndrome group. This disease is caused by somatic mosaicism predominantly in the HRAS gene. Pathognomonic PPK sign is combination of congenital linear nevus sebaceus of Jadassohn and speckled lenti...

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Principais autores: Ekaterina E. Zelenova, Tatiana S. Belysheva, Peter A. Vasiliev, Elena V. Sharapova, Vera V. Semenova, Elena V. Mikhaylova, Marina Yu. Dorofeeva, Timur T. Valiev, Tatiana V. Nasedkina
Format: Artigo
Sprog:Inglês
Udgivet: "Paediatrician" Publishers LLC 2025-09-01
Serier:Вопросы современной педиатрии
Fag:
пигментно-кератотический факоматоз
ген braf
соматический мозаицизм
генодерматоз
дети
орфанный
невус сальных желез ядассона
крапчатый лентигинозный невус
невус spilus
Online adgang:https://vsp.spr-journal.ru/jour/article/view/3817
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