This study investigated a large Pakistani family with 16 individuals affected by X-linked ichthyosis (XLI), including a rare occurrence of two homozygous female patients. The research identified a novel hemizygous nonsense mutation (c.287G > A; p.W96*) in exon 4 of the STS gene in all affected males, while the two affected females were homozygous for this mutation. Clinical manifestations included generalized dryness and scaling of the skin, with no extracutaneous features observed. The findings contributed to understanding the genetic basis of XLI, expanded the known mutational spectrum of the STS gene, and aided in the diagnosis of female carriers, providing valuable information for genetic counseling.
87 citations
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March 2014 in “Biochimica et Biophysica Acta (BBA) - Molecular and Cell Biology of Lipids” Cholesterol sulfate buildup due to a genetic mutation disrupts the skin barrier, leading to the scaling skin seen in X-linked ichthyosis.
6 citations
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January 2003 in “Dermatology” Men with X-linked recessive ichthyosis often experience male-pattern baldness.
The document describes a rare case of IFAP syndrome, a genetic condition with symptoms of hair loss, light sensitivity, and scaly skin.
2 citations
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March 2011 in “International Journal of Dermatology” An 18-year-old man was diagnosed with a rare genetic disorder causing hair loss, severe light sensitivity, and skin issues.
40 citations
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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
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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.
