Generalized Epidermal Nevus and Acanthosis Nigricans Due to a Postzygotic FGFR3 Variant

Xiaoping Pei; Yuxiang Yao; Huijun Wang; Zhimiao Lin

doi:10.1001/jamadermatol.2025.4539

December 3, 2025JAMA Dermatology

Generalized Epidermal Nevus and Acanthosis Nigricans Due to a Postzygotic FGFR3 Variant

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Key Points

Severe achondroplasia was observed in a patient with a postzygotic fgfr3 variant, leading to significant developmental delay.
The presence of both generalized epidermal nevus and acanthosis nigricans was notable in the case presentation.
Assessment utilized genetic evaluation to identify the fgfr3 variant causing these phenotypic traits.
Highlights the need for further studies on postzygotic mutations and their implications for growth development in affected individuals.

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Implication

Case report shows postzygotic fgfr3 variant with developmental delay and achondroplasia, indicating potential implications for treatment.

Abstract

This case report describes a patient with a postzygotic FGFR3 variant leading to severe achondroplasia with developmental delay and acanthosis nigricans accompanied by both acanthosis nigricans and generalized epidermal nevus.

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Pei et al. (2025) studied this question.

synapsesocial.com/papers/694025912d562116f28fe94b https://doi.org/10.1001/jamadermatol.2025.4539

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Generalized Epidermal Nevus and Acanthosis Nigricans Due to a Postzygotic FGFR3 Variant

Key Points

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Implication

Abstract

Discussion

Cite This Study

Generalized Epidermal Nevus and Acanthosis Nigricans Due to a Postzygotic FGFR3 Variant

Key Points

Ask about this paper

Implication

Abstract

Discussion

Cite This Study

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