TLDR A Brazilian male with IFAP syndrome has a unique genetic variant causing his condition.
This study reports on a Brazilian male patient diagnosed with IFAP syndrome, a rare X-linked genetic disorder characterized by ichthyosis follicularis, alopecia, and photophobia, along with additional anomalies such as severe congenital ichthyosis, cryptorchidism, limb malformation, and features of BRESHECK syndrome. The patient's condition was found to be caused by a rare missense variant in the MBTPS2 gene, identified through whole-exome sequencing. This variant was not present in other family members, making this the first documented case of IFAP syndrome in Brazil with a molecular investigation, thereby contributing to the understanding of the genetic variations associated with this syndrome.
71 citations
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January 2011 in “Orphanet Journal of Rare Diseases” IFAP syndrome is a rare genetic disorder causing skin, hair, and eye issues, with limited treatment options.
71 citations
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January 2011 in “Orphanet Journal of Rare Diseases” IFAP syndrome is a rare genetic disorder causing skin, hair, and eye issues, with limited treatment options.
66 citations
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June 2018 in “British Journal of Dermatology” European guidelines recommend regular eye and ear exams, skin care, vitamin D supplements, and cautious use of medications for managing congenital ichthyoses.
3 citations
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September 2017 in “Archives of dermatological research” Early diagnosis and tailored treatments are crucial for managing ichthyosis syndromes with hair abnormalities.
47 citations
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March 2016 in “Journal of dermatology” Understanding the genetics of rare inherited ichthyosis syndromes is key for better treatments and genetic counseling.
3 citations
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January 2015 in “Indian journal of paediatric dermatology” Oral isotretinoin temporarily improved skin symptoms in a child with IFAP syndrome.
The document describes a rare case of IFAP syndrome, a genetic condition with symptoms of hair loss, light sensitivity, and scaly skin.
