TLDR Early diagnosis and tailored treatments are crucial for managing ichthyosis syndromes with hair abnormalities.
The document reviewed various forms of ichthyosis syndromes with a focus on hair abnormalities, discussing their management, pathogenesis, and molecular genetics. It highlighted genetic mutations in genes like ST14, SPINK5, and MBTPS2, which affect processes such as profilaggrin processing and protease inhibition. Clinical features included follicular atrophoderma, hypotrichosis, and photophobia. Potential treatments discussed were acitretin and narrowband UVB phototherapy. The review emphasized the complexity of these syndromes, the importance of early diagnosis, and the need for tailored therapeutic strategies.
47 citations,
March 2016 in “Journal of dermatology” Understanding the genetics of rare inherited ichthyosis syndromes is key for better treatments and genetic counseling.
40 citations,
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3 citations,
September 2017 in “Archives of dermatological research” Early diagnosis and tailored treatments are crucial for managing ichthyosis syndromes with hair abnormalities.
75 citations,
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