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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.
Krabbe disease/galactosylceramide lipidosis/globoid cell leukodystrophy
Published in William L. Nyhan, Georg F. Hoffmann, Aida I. Al-Aqeel, Bruce A. Barshop, Atlas of Inherited Metabolic Diseases, 2020
These patients often have microcephaly, but macrocephaly has been observed [18–21], as has hydrocephalus [22]. They have no hepatosplenomegaly or bony abnormalities. One patient had ichthyosis [20]. Protruding ears have been described as a feature of the disease [23].
Retinoids in Keratinization Disorders
Published in Ayse Serap Karadag, Berna Aksoy, Lawrence Charles Parish, Retinoids in Dermatology, 2019
Ichthyosis disorders are characterized by dryness with marked desquamation. Several types of ichthyosis exist (1). Congenital ichthyosis requires lifelong treatment. Current evidence about ichthyosis treatments with oral retinoids including acitretin, isotretinoin and also oral liarozole as retinoic acid metabolism blocking agent is limited. Topical therapies, such as 5% urea, 5% lactic acid, 20% propylene glycol, calcipotriol, and liarozole 5% cream, have demonstrated some therapeutic efficacy in ichthyoses (2–19).
Physiological and pathophysiological roles of hepoxilins and their analogs
Published in Drug Metabolism Reviews, 2023
Sara A. Helal, Fadumo Ahmed Isse, Samar H. Gerges, Ayman O. S. El-Kadi
Even though HXs mainly are produced from 12S-LOX, a novel LOX pathway in the normal epidermis was proposed in 2002 by Fischer and his colleagues who provided genetic evidence that established the role of LOX enzymes in the skin (Jobard et al. 2002). The analysis of the catalytic activities of 12 R-LOX and eLOX3 in the skin suggested that they can form HX metabolites (Brash et al. 2007). In addition, biochemical studies using recombinant enzymes found that the biochemical activities of the eLOX3 enzyme exhibit hydroperoxide isomerase activity and can convert 12 R-HpETE to specific hepoxilin-type derivatives (Yu et al. 2003). Genetic mutations of either arachidonate 12-lipoxygenase gene (ALOX12B) which encodes 12 R-LOX enzyme or arachidonate lipoxygenase-3 gene (ALOXE3) encoding eLOX3 enzyme result in deficiency of some HXs and can cause loss of the integrity of the epidermal water barrier. This is greatly associated with a skin disease called ichthyosis which is characterized by severe dehydration, infections, and chronic blistering of the skin (Muñoz-Garcia et al. 2014).
Portulaca oleracea extract relieves skin barrier damage induced by increased photosensitivity after GA peeling
Published in Cutaneous and Ocular Toxicology, 2022
Jing Wei, Qianghua Quan, Peiyu Wang, Yiming Wang, Tong Huo, Quan An
There are different kinds of acids used in chemical peeling, and alpha hydroxy acids (AHAs) are the most common. AHAs are natural substances extracted from various fruits, cane, yogurt, etc. In 1974, Scott and Yu1 reported that some AHAs have antikeratinogenic properties in patients with several types of ichthyosis. AHAs accelerate the shedding of stratum corneum cells by reducing adhesion and activating steroid sulfatase and serine proteases to degrade desmosomes, thereby speeding up the skin's metabolism2. In addition, their moisturizing and antioxidant properties have been described3. Besides epidermal effects, AHAs evoke dermal changes. Kim et al.4 performed in vitro studies using cultured human skin fibroblasts and showed a dose-dependent increase in cell proliferation and collagen production. The effect on fibroblast proliferation is also documented in other literature5,6. Owing to these characteristics, AHAs can be used for the treatment of ichthyosis, keratosis, scars, rosacea, chloasma, and other pigmentation diseases7. AHAs have been used as therapeutic agents for nearly half a century and are still commonly used8,9. Glycolic acid (GA), an AHA that is mainly extracted from sugarcane, has the smallest molecular weight among AHAs and is the most commonly used chemical peeling agent because of its permeability10,11.
Clinical considerations when treating neonatal aspiration syndromes
Published in Expert Review of Respiratory Medicine, 2019
Andrea Calkovska, Daniela Mokra, Vladimir Calkovsky, Katarina Matasova, Mirko Zibolen
Another rare condition leading to aspiration syndrome is congenital ichthyosis, which is a part of ichthyosis prematurity syndrome (IPS). It presents with skin changes at birth, ultrastructural abnormalities of the epidermis, and extracutaneous manifestations [52]. Prenatally, IPS is characterized by ultrasound findings of polyhydramnios, separation of chorionic and amniotic membranes, with an appearance of echo-free fluid in the chorionic cavity, and echogenic amniotic fluid [53]. The amniotic fluid may contain an abnormally high concentration of desquamated epithelial cells [54], which may enter the fetal respiratory tract either in utero during physiological fetal respiratory movements or at birth by gasping initiated due to fetal distress. Inhalation of such amniotic fluid is manifested by life-threatening neonatal asphyxia based on atypical pulmonary aspiration syndrome [54]. The severity of lung disease is correlated with the severity of ichthyosis: the diagnosis is made by clinical or radiological findings. Cytological analysis of broncho-alveolar lavage fluid reveals a high ratio of squamous cells [55], and keratin debris can be observed to fill the bronchial tree and alveoli at postmortem examination [52].