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Nonsyndromic epidermal differentiation disorders: New classification and nomenclature based on disease-associated genes leading to targeted therapy.
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Nonsyndromic epidermal differentiation disorders: New classification and nomenclature based on disease-associated genes leading to targeted therapy. The British journal of dermatology Akiyama, M., Choate, K., Hernandez-Martin, A., Aldwin-Easton, M., Bodemer, C., Gostynski, A., Hovnanian, A., Ishida-Yamamoto, A., Malovitski, K., O'Toole, E. A., Paller, A. S., Schmuth, M., Schwartz, J., Sprecher, E., Teng, J. M., Granier Tournier, C., Mazereeuw-Hautier, J., Tadini, G., Fischer, J. 2025Abstract
Epidermal differentiation disorders (EDDs) encompass inherited conditions characterized by abnormal epidermal differentiation, including nonsyndromic and syndromic subtypes with more extensive cutaneous involvement or palmoplantar keratodermas. Nonsyndromic EDDs (nEDDs) are defined as disorders that primarily affect large areas of skin and adnexal structures without alterations in extracutaneous tissues resulting from the underlying genetic change. To facilitate the development of targeted therapies and provide clinicians with clearer therapeutic guidance, we have recently developed a new nomenclature for EDDs that includes the causative altered gene and the nEDD subgroup designation, sometimes with a clinical or histological descriptor or acronym. Historically, many nEDDs have been named on the basis of phenotypic characteristics or associations that are now considered outdated or inappropriate. For example, the term "harlequin ichthyosis" evokes potentially stigmatizing images. Similarly, the word "ichthyosis" is derived from the Greek "ichthys", meaning fish, and the Greek "hystrix", meaning porcupine, further emphasizing the need to abandon derogatory terminology. As a result, the clinical relevance of the previous classification, which included eponymous and/or descriptive titles, has diminished. In the new, gene-based classification, old terms considered pejorative, such as ichthyosis, vulgaris, hystrix, and harlequin have been eliminated and eponyms have been replaced. Among the 53 genetically distinct nEDDs are conditions formerly known as autosomal recessive congenital ichthyosis, erythrokeratodermia variabilis et progressiva, Hailey-Hailey disease, and Darier-White disease. This review outlines the updated nomenclature and classifications of nEDDs, linked to detailed clinical descriptions and representative photographs to guide practitioners.
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