Poikiloderma with neutropenia: An alternate presentation with dyspigmentation and novel USB1 mutation

Malina Yamashita Peterson; Brooke Hanson; Ingrid Polcari

doi:10.1111/pde.15007

Poikiloderma with neutropenia: An alternate presentation with dyspigmentation and novel USB1 mutation

Malina Yamashita Peterson, Brooke Hanson, Ingrid Polcari

Research output: Contribution to journal › Article › peer-review

Abstract

Two siblings presented with sun sensitivity and progressive dyspigmentation. A diagnosis of xeroderma pigmentosum was initially favored due to XPC mutations, although variants were not clearly diagnostic. However, new moderate neutropenia and homozygous suspected pathogenic variants in USB1 led to diagnosis of poikiloderma with neutropenia. This case highlights the importance of reevaluation of diagnosis due to significant phenotypic overlap in congenital disorders of photosensitivity with poikiloderma or dyspigmentation.

Original language	English (US)
Pages (from-to)	609-612
Number of pages	4
Journal	Pediatric Dermatology
Volume	39
Issue number	4
DOIs	https://doi.org/10.1111/pde.15007
State	Published - Jul 1 2022

Bibliographical note

Publisher Copyright:
© 2022 The Authors. Pediatric Dermatology published by Wiley Periodicals LLC.

Keywords

mutation
neutropenia/diagnosis
neutropenia/genetics
skin abnormalities/diagnosis
skin abnormalities/genetics

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10.1111/pde.15007

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title = "Poikiloderma with neutropenia: An alternate presentation with dyspigmentation and novel USB1 mutation",

abstract = "Two siblings presented with sun sensitivity and progressive dyspigmentation. A diagnosis of xeroderma pigmentosum was initially favored due to XPC mutations, although variants were not clearly diagnostic. However, new moderate neutropenia and homozygous suspected pathogenic variants in USB1 led to diagnosis of poikiloderma with neutropenia. This case highlights the importance of reevaluation of diagnosis due to significant phenotypic overlap in congenital disorders of photosensitivity with poikiloderma or dyspigmentation.",

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KW - neutropenia/genetics

KW - skin abnormalities/diagnosis

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Poikiloderma with neutropenia: An alternate presentation with dyspigmentation and novel USB1 mutation

Abstract

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Keywords

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