TLDR A baby was diagnosed with IFAP syndrome due to a new genetic mutation, showing severe skin and developmental issues.
The document described a case of a three-month-old Caucasian male with IFAP syndrome, characterized by follicular ichthyosis, atrichia, and photophobia, confirmed by a novel missense mutation in the MBTPS2 gene. The patient exhibited universal alopecia, severe atopic dermatitis, dystrophic nails, developmental delays, and other clinical manifestations such as seizures and multiple organ anomalies. Despite treatment with moisturizers and topical steroids, the patient experienced persistent pruritic lesions. The study highlighted the phenotypic variability of IFAP syndrome and the significant impact on patients and their families, emphasizing the need for a multidisciplinary approach to manage the condition.
14 citations,
December 2010 in “Journal of human genetics” A Japanese patient with IFAP syndrome had a severe MBTPS2 gene mutation but showed milder symptoms than previously observed cases.
40 citations,
August 2005 in “JEADV. Journal of the European Academy of Dermatology and Venereology/Journal of the European Academy of Dermatology and Venereology” Acitretin moderately improved skin and eye issues but not hair loss or light sensitivity in a 3-year-old with IFAP syndrome.
75 citations,
September 1985 in “Archives of dermatology” Two boys had a rare skin condition needing to be differentiated from similar disorders, with unclear inheritance due to few cases.
14 citations,
December 2010 in “Journal of human genetics” A Japanese patient with IFAP syndrome had a severe MBTPS2 gene mutation but showed milder symptoms than previously observed cases.
The document describes a rare case of IFAP syndrome, a genetic condition with symptoms of hair loss, light sensitivity, and scaly skin.
December 2023 in “Clinical Cosmetic and Investigational Dermatology” An 8-year-old Saudi boy was diagnosed with a rare genetic disorder causing hair loss, skin issues, and light sensitivity.
3 citations,
January 2015 in “Indian journal of paediatric dermatology” Oral isotretinoin temporarily improved skin symptoms in a child with IFAP syndrome.
43 citations,
December 2013 in “Seminars in Cell & Developmental Biology” Genetic mutations can cause hair growth disorders by affecting key genes and signaling pathways.
