Ichthyosis Prematurity Syndrome: A Rare Form but Easily Recognizable Ichthyosis
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ABSTRACT:
SUBMITTER: Al-Khenaizan S
PROVIDER: S-EPMC8525308 | biostudies-literature |
REPOSITORIES: biostudies-literature
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Project description:Ichthyosis prematurity syndrome (IPS) is an autosomal-recessive disorder characterized by premature birth and neonatal asphyxia, followed by a lifelong nonscaly ichthyosis with atopic manifestations. Here we show that the gene encoding the fatty acid transport protein 4 (FATP4) is mutated in individuals with IPS. Fibroblasts derived from a patient with IPS show reduced activity of very long-chain fatty acids (VLCFA)-CoA synthetase and a specific reduction in the incorporation of VLCFA into cellular lipids. The human phenotype is consistent with Fatp4 deficiency in mice that is characterized by a severe skin phenotype, a defective permeability barrier function, and perturbed VLCFA metabolism. Our results further emphasize the importance of fatty acid metabolism for normal epidermal barrier function illustrated by deficiency of a member in the FATP family of proteins.
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Project description:Ichthyosis uteri is an exceedingly rare condition in which the entire surface of the endometrium is replaced by stratified squamous epithelium. It is a benign lesion and its association with benign and malignant conditions has been reported in the literature (Bewtra, Xie, Hunter, Jurgensen (Arch Pathol Lab Med 29:e124-e125, 2005)). Originally described as an endometrial response to iatrogenically introduced caustic substances, similar changes have since been described in association with a variety of inflammatory conditions of the endometrium. It is concluded that a squamous cell carcinoma of the cervix extended proximally into the endometrium (Bagga, Jaswal, Datta, Mahajan (Indian J Pathol Microbiol 51:267-268, 2008)). The possibility of significant cervical pathology should be considered when plaques of squamous epithelium with low-grade dysplastic changes are identified in an endometrial biopsy or curettage.Supplementary informationThe online version contains supplementary material available at 10.1007/s13224-021-01472-3.
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Project description:The IFAP syndrome is a rare X-linked genetic disorder reported in nearly 40 patients. It is characterized by the triad of Ichthyosis Follicularis, Alopecia, and Photophobia from birth. Other features such as short stature, intellectual disability, and seizures may develop in the first few years of life. Skin histopathology is non-specific and consists of dilated hair follicles with keratin plugs extending above the surface of the skin, decreased or absent sebaceous glands, and decreased desmosomes in number and size. The disorder results from mutations in the MBTPS2 gene that impairs cholesterol homeostasis and the ability to cope with endoplasmic reticulum stress. Follicular hyperkeratosis can be treated using topical keratolytics, emollients and urea preparations. A moderate response to acitretin therapy has been noted in some patients. Intensive lubrication of the ocular surface is essential. Life expectancy in patients with IFAP syndrome can vary from death in the neonatal period to normal surviving. Cardiopulmonary complications remain the major cause of death.
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