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Disorders of Keratinization and Other Genodermatoses
Published in Ayşe Serap Karadağ, Lawrence Charles Parish, Jordan V. Wang, Roxburgh's Common Skin Diseases, 2022
Roselyn Stanger, Nanette Silverberg
Differential diagnosis: There are many ichthyoses, and there can be overlapping clinical presentations. These include lamellar ichthyosis, X-linked ichthyosis, xerosis, atopic dermatitis, and acquired ichthyosis.
Multiple sulfatase deficiency
Published in William L. Nyhan, Georg F. Hoffmann, Aida I. Al-Aqeel, Bruce A. Barshop, Atlas of Inherited Metabolic Diseases, 2020
Deficiency of arylsulfatase A would be consistent with clinical features of MLD. The deficiency of steroid sulfatase is responsible for the skin lesions of X-linked ichthyosis. Among the enzymes of mucopolysaccharide metabolism: (1) deficiency of iduronate sulfatase provides manifestations of Hunter syndrome; (2) deficiency of heparan sulfatase yields the impaired mental development and cerebral features of Sanfilippo A disease; (3) deficiency of N-acetylglucosamine-6-sulfatase, those of Sanfilippo B disease; (4) deficiency of N-acetylgalactosamine-6-sulfatase gives rise to features of Morquio disease; and (5) deficiency of N-acetylgalactosamine-4-sulfatase, also known as arylsulfatase B, causes features of Maroteaux-Lamy disease, including corneal clouding. Obviously, different degrees of deficiency or amounts of residual enzyme activity would be expected to lead to quite different phenotypes. A number of different clinical phenotypes have been delineated [4], including the classic late infantile form, a neonatal form, a juvenile form, and a Saudi variant.
Stratum Corneum Lipid Composition and Organization
Published in Heather A.E. Benson, Michael S. Roberts, Vânia Rodrigues Leite-Silva, Kenneth A. Walters, Cosmetic Formulation, 2019
Enamul Haque Mojumdar, Joke A. Bouwstra
Finally, recessive X-linked ichthyosis suffers from the elevated levels of CHOL sulphate in the SC due to the deficiency of the enzyme CHOL sulphatase (Rehfeld et al., 1988; Zettersten et al., 1998). An increment in CHOL sulphate resulted in a fluid phase formation in the lipid model mixtures, and therefore elevated cholesterol sulphate levels may contribute to a reduced skin barrier in this disease (Bouwstra et al., 1999).
Steroid sulfatase inhibitors: the current landscape
Published in Expert Opinion on Therapeutic Patents, 2021
Hanan S. Anbar, Zahraa Isa, Jana J. Elounais, Mariam A. Jameel, Joudi H. Zib, Aya M. Samer, Aya F. Jawad, Mohammed I. El-Gamal
STS deficiency contributes to several pathological conditions. The most distinct finding was the association of STS deficiency with X-linked ichthyosis. X-linked ichthyosis (XLI) is a dermatological condition considered as the second most common type of ichthyosis in males. X-linked ichthyosis found to be associated with STS deficiency which is either caused by deletions or mutations of STS gene [7]. As mentioned before, STS gene is located on Xp22.31, it was found in another study that the deletions on Xp22.31-p22.33 may cause Kallmann syndrome and STS deficiency [37]. XLI condition is characterized by adherent, dry, polygonal brown scales on the skin that are distributed everywhere including the scalp, ears, neck, and also the limbs [38]. These brown scales are resulted from the accumulation of cholesterol sulfate in the outer layers of the skin due to STS deficiency [39]. In previous studies, it was reported that XLI affects approximately 1:2000 to 1:6000 males worldwide,, while females were carriers to the disease as they do not manifest the condition[40].