X linked ichthyosis3/9/2023 The ichthyosis is life-long but hyperkeratosis and scaling may improve with age. Prognosis RXLI represents a benign form of ichthyosis. : good prognosis lesions usually disappear during adolescence References: X-linked ichthyosis Epidemiology : 1 in about every 6000 male births Etiology : X-linked recessive trait (transmitted only to males) → inherited deficiency of the (Outcomes/Resolutions) The prognosis of X-Linked Recessive Ichthyosis depends on the severity of the signs and symptoms Severe congenital cases have poor prognosis, while mild, acquired cases have a much better prognosis Additional and Relevant Useful Īlthough skin samples in mild cases may appear normal on histology, samples obtained from more severe cases show eosinophilic hyperkeratosis, with rete ridges, and a sparse infiltrate of perivascular and periappendageal lymphocytes and histiocytes. Genetic diagnosis of homozygotic XLI can be done with Polymerase chain reaction and Southern blot testing while multiplex quantitative fluorescent polymerase chain reaction (PCR), as well as, FISH are required to identify carriers and complete deletions. Antenatally, XLI can be diagnosed with fluorescence in situ hybridization ( FISH). Biochemical testing will confirm the deficiency of arylsulfatase C. ĭiagnosis of XLI can be confirmed postnatally with genetic analysis of STS activity assays of placental cells, cutaneous fibroblasts, keratinocytes, or lymphocytes. Slit-lamp examination in affected adult males and heterozygous females is likely to show comma-shaped corneal opacities in the posterior capsule and corneal stroma. A complete family history and physical examination are important before proceeding with confirmatory tests. Rarer clinical features include hypertrophic pyloric stenosis, short stature, and mental retardation.ĭiagnosis of XLI is based on the appearance of the classical scaly pattern of the skin in affected individuals. Cryptorchidism and testicular cancer cases have also been reported in XLI patients.Ītypical presentations with milder phenotypic manifestations like dermatitis or lower limb scaling alone can also occur. Corneal opacities have been reported in affected males as well as a late manifestation in heterozygous carriers. Hair and nails are normal in patients with XLI. They are more prominent in winter and cold weather and may present initially as erythroderma. Usually, the palms and the soles are unaffected.The scales are adherent, brown, polygonal and described as "dirty". With the progression of the disease in childhood, prominent scalp scaling extending to the preauricular region, posterior neck and involving the flexural aspects of the limbs is noted. Classically the infant has scales on the posterior aspect of the neck, trunk, extensor aspects of the limbs and scalp. Typically XLI starts at birth or in the neonatal period with some atypical cases presenting either later in childhood or with fewer phenotypic features. Although this condition is more commonly seen amongst men (X-linked), a few cases in heterozygous females (carriers) with corneal opacities has also been reported. Instead, they clump together leading to the classical appearance of scaly skin. Deficiency of this enzyme leads to accumulation of cholesterol sulfate in the cutaneous cells which adhere to each other strongly and do not exfoliate. X-linked ichthyosis (XLI) is an inherited disorder caused by the deficiency of the steroid sulfatase (STS) enzyme which maintains the integrity of the skin.
0 Comments
Leave a Reply.AuthorWrite something about yourself. No need to be fancy, just an overview. ArchivesCategories |