Keratoderma-hypotrichosis-leukonychia Totalis Syndrome: A New Case Report of an Exceptional Entity
DOI:
https://doi.org/10.2340/actadv.v105.43168Keywords:
Ichthyosis, Keratoderma-hypotrichosis-leukonychia totalis, Erythrokeratodermia variabilis et progressivaDownloads
References
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Wang H, Cao X, Lin Z, Lee M, Jia X, Ren Y, et al. Exome sequencing reveals mutation in GJA1 as a cause of keratoderma-hypotrichosis-leukonychia totalis syndrome. Hum Mol Genet 2015; 24: 243–250.
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Boyden LM, Craiglow BG, Zhou J, Hu R, Loring EC, Morel KD, et al. Dominant de novo mutations in GJA1 cause erythrokeratodermia variabilis et progressiva, without features of oculodentodigital dysplasia. J Invest Dermatol 2015; 135: 1540–1547.
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https://doi.org/10.1111/1346-8138.13220 DOI: https://doi.org/10.1111/1346-8138.13220
Sprecher E, Ishida-Yamamoto A, Schwartz J, Akiyama M, Aldwin-Easton M, Choate K, et al. Palmoplantar epidermal differentiation disorders: a new classification towards pathogenesis-based therapy. Br J Dermatol 2025 Mar 19 [Online ahead of print].
https://doi.org/10.1093/bjd/ljaf054 DOI: https://doi.org/10.1093/bjd/ljaf054
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Copyright (c) 2025 Carlos Gutiérrez-Cerrajero, Nerea Gestoso-Uzal, Nelmar Valentina Ortiz-Cabrera, Rogelio González-Sarmiento, Ángela Hernández-Martín
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