Triad of Keratosis Pilaris, Ulerythema Ophryogenes, and 18p Monosomy: Zouboulis Syndrome

    May 2014 in “ Journal of dermatology ”
    Aikaterini I. Liakou, André Vicente Esteves de Carvalho, Л. П. Назаренко
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    TLDR Zouboulis syndrome is a rare condition that helps diagnose monosomy 18p early.
    The document reviewed five cases reported over 20 years that exhibited a combination of keratosis pilaris, ulerythema ophryogenes, and monosomy 18p, suggesting the existence of a new rare syndrome, termed Zouboulis syndrome. This syndrome, characterized by hereditary disorders of hair follicle keratinization and a chromosomal deletion, could aid in the early diagnosis of monosomy 18p.
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