Пигментно-кератотический факоматоз: клинический случай.

Обоснование. Пигментно-кератотический факоматоз (ПКФ) — орфанный генодерматоз из группы синдрома эпидермального невуса. Заболевание вызвано соматическим мозаицизмом преимущественно в гене HRAS. Патогномоничным признаком ПКФ является сочетание врожденного линейного невуса сальных желез Ядассона и крапчатого лентигинозного невуса. Последний может дебютировать значительно позже. В ряде случаев наблюдаются признаки поражения нервной системы, скелетные нарушения, патология органов зрения. Описание клинического случая. Представлено описание пациента с ПКФ и мозаичным вариантом G469A в гене BRAF, ранее не описанным при этом заболевании. В клинической картине присутствуют типичные проявления синдрома и иммунологические нарушения, нехарактерные для пациентов с ПКФ. Проведен анализ возможных генотип-фенотипических корреляций по данным еще 16 ранее опубликованных наблюдений генетически верифицированного ПКФ. Заключение. Редкость синдрома, вариабельность его течения и особенности генетического тестирования пациентов определяют сложности диагностики ПКФ. Заболевание необходимо рассматривать не только в контексте дерматологических проявлений, но и учитывать сопутствующие нарушения. В план динамического наблюдения необходимо включать консультации детского онколога, невролога, офтальмолога, эндокринолога, ортопеда, кардиолога и иммунолога.

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