TLDR Treatment with moisturizers improved the skin condition of a girl with a rare genetic skin disorder.
This case report described a 10-year-old girl with lamellar ichthyosis, a rare genetic skin disorder due to a TGM 1 gene mutation. She had generalized scales, ectropion, and eclabium since birth. Treatment with emollients and supportive therapy significantly improved her skin condition in six weeks. The report noted that the disorder involved excessive water loss through the skin and risk of secondary infections, with treatment aimed at managing symptoms and enhancing the skin barrier.
June 2006 in “British Journal of Dermatology” The document reports unique growth lines in a child after Stevens-Johnson syndrome, skin reaction from parsnips and sun in a girl, and itchy skin with xanthomas in a boy with Alagille syndrome.
21 citations
,
July 2022 in “Orphanet journal of rare diseases” New treatments for ichthyosis, like protein replacement and gene therapy, show promise and may become standard care.
81 citations
,
June 2012 in “European journal of human genetics” Inherited ichthyoses cause widespread skin scaling and thickening due to gene mutations.
16 citations
,
September 2015 in “International Journal of Molecular Sciences” A specific gene variant causes severe skin issues and increases infection risk, requiring careful medical monitoring.
66 citations
,
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.
