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Selected Heritable Skin Diseases of Domesticated Animals
Published in John P. Sundberg, Handbook of Mouse Mutations with Skin and Hair Abnormalities, 2020
Robert W. Dunstan, Robert A. Kennis
Comments — Although some clinical (absence of erythroderma and blistering) and ultrastructural (absence of perinuclear tonofilament shells) features distinguish the canine from the human disease, there are sufficient similarities to characterize the canine disease as an epidermolytic ichthyosis.4 In humans, three forms of epidermolytic ichthyoses are recognized: bullous ichthyotic erythroderma of Brocq, ichthyosis bullosa of Siemens, and ichthyosis hystrix of Curth-Macklin.4,5 In addition, forms of epidermolytic epidermal nevi have been recognized. Whether the canine disease can be categorized as one of these conditions remains to be defined. Recent studies have shown that human epidermolytic hyperkeratosis is associated with point mutations in the K1 and K10 genes. The mutation in the K10 gene is in the exact same arginine residue as the corresponding K14 mutation reported for human epidermolysis bullosa simplex.5–7 A fascinating investigation would be to determine if the same point mutations occur in canine epidermolytic ichthyosis.
Disorders of keratinization and other genodermatoses
Published in Ronald Marks, Richard Motley, Common Skin Diseases, 2019
Epidermolytic hyperkeratosis (EH) is a rare, autosomal dominant disorder of keratinization. As in NBIE, there is generalized erythema and the disorder is presaged by a collodion membrane at birth in some patients (see p. 265). The condition is characterized by the tendency to blister or develop erosions at the sites of trauma (Figs 18.8 and 18.9). The erythema and blistering improve with age. Scaling and hyperkeratosis is characteristically ridged or corrugated at flexures. EH is clinically heterogeneous and the most frequently encountered type is generalized all over the body. Other types include one with localization to the palms and soles and a type where the histological changes are seen only in epidermal naevi.
Principles of Clinical Diagnosis
Published in Susan Bayliss Mallory, Alanna Bree, Peggy Chern, Illustrated Manual of Pediatric Dermatology, 2005
Susan Bayliss Mallory, Alanna Bree, Peggy Chern
Williams ML, Elias PM. Enlightened therapy of the disorders of cornification. Clin Dermatol 2003; 21: 269–73 Epidermolytic hyperkeratosis
The use of isotretinoin for acne – an update on optimal dosing, surveillance, and adverse effects
Published in Expert Review of Clinical Pharmacology, 2020
Edileia Bagatin, Caroline Sousa Costa
Myalgia, with or without CPK increase, arthralgia, arthritis, tendinitis, backache, ligaments, and tendons calcification, bone density reduction, periostitis, and hyperostosis (disseminated idiopathic skeletal hyperostosis syndrome or DISH) and epiphysis premature closure. The last came up after a case report about a child treated for epidermolytic hyperkeratosis with a daily dose >1 mg/kg of isotretinoin, during 4 years and 6 months. In 2008, it was clarified that muscles and bone homeostasis can be influenced by isotretinoin when higher daily dose (>1 mg/kg) during a long period (>2 years) is used in children. Total dose is never so high when treating acne. Therefore, there is no risk of serious adverse effects on musculoskeletal system, including, epiphysis premature closure when treating acne [103].
Isotretinoin for acne vulgaris – an update on adverse effects and laboratory monitoring
Published in Journal of Dermatological Treatment, 2022
Haady Fallah, Marius Rademaker
Another issue that has been a source of concern has been the possible association between isotretinoin and premature epiphyseal closure. Milstone et al. reported a case of premature epiphyseal closure in the right knee of a 10-year-old patient taking isotretinoin for 4.5 years for epidermolytic hyperkeratosis (66). During the last 2.5 years of treatment, the dose of isotretinoin averaged 3.5 mg/kg/day. The patient was also taking vitamin A supplements. Marini reported the development of dense metaphyseal bands and growth arrest in a 9-year-old boy with fibrodysplasia ossificans progressiva after 5 months of treatment with very high dose isotretinoin (4–5mg/kg) (67). Cessation of isotretinoin led to a gradual decrease of the bands and resumption of clinical growth.