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

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

doi:10.1093/bjd/ljag302

Key Points

To investigate the potential association between congenital epidermal differentiation disorders and the development of cutaneous T-cell lymphoma.
Reported three cases of patients with nonsyndromic epidermal differentiation disorder and a recurrent variant in NIPAL4.
All patients developed cutaneous T-cell lymphoma (Sézary syndrome).
Skin biopsy was suggested for patients exhibiting phenotypic change, pruritus, or treatment resistance.
All three patients developed Sézary syndrome, a type of cutaneous T-cell lymphoma.
Findings suggest a potential link between epidermal barrier defects and the onset of lymphoma.
Highlight the necessity for skin biopsy in NIPAL4-related epidermal differentiation disorder cases showing specific symptoms.

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Implication

Case report reveals a potential connection between epidermal barrier defects and lymphomagenesis in non-syndromic patients, suggesting clinical implications.

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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Cite This Study

Montai et al. (2026) studied this question.

synapsesocial.com/papers/6a630201395161722cd16771 https://doi.org/10.1093/bjd/ljag302

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

Key Points

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Implication

Abstract

Discussion

Cite This Study

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

Key Points

Ask about this paper

Implication

Abstract

Discussion

Cite This Study

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