Cutaneous T-cell lymphoma in the setting of NIPAL4-related nonsyndromic epidermal differentiation disorder: three cases

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ID: 321870
2026
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Abstract
We report three patients with nonsyndromic epidermal differentiation disorders associated with the same recurrent pathogenic NIPAL4 variantt who subsequently developed cutaneous T-cell lymphoma (Sézary syndrome in all cases). These observations suggest a possible link between congenital epidermal barrier defects and lymphomagenesis, and highlight the importance of considering skin biopsy in nEDD patients with phenotypic change, pruritus, or treatment resistance.
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Authors Quitterie Murat de Montai, Emmanuelle Bourrat, Gilles Battesti, G. Hickman, Pauline Bataille, S. Miskinyte, Asma Smahi, Hélène Moins-Teisserenc, C Grolleau, Smail Hadj-Rabia, C Ram-Wolff, Bouaziz Jd, Christine Bodemer, Judith Fischer, Alain Hovnanian, Maxime Battistella, A de Masson, Alizée Bozonnat
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Journal the british journal of dermatology
Year 2026
DOI
10.1093/bjd/ljag302
URL
https://doi.org/10.1093/bjd/ljag302
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