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.
Genetic testing can help diagnose skin conditions but needs more research for full effectiveness.
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September 2015 in “Serbian Journal of Dermatology and Venereology/Serbian Journal of Dermatology and Venerology” A 19-year-old male had two rare skin conditions causing scarring and permanent hair loss.
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September 2021 in “Experimental and Therapeutic Medicine” Early diagnosis of Keratosis pilaris atrophicans faciei can lead to better, personalized treatments.
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September 2016 in “Reviews in Endocrine and Metabolic Disorders” Skin health and diseases are closely linked to metabolic processes.
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January 2019 in “Pan African Medical Journal” Keratosis pilaris causes small skin bumps, mainly in women, and treatments offer only temporary relief.