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

Malina Yamashita Peterson, Brooke Hanson, Ingrid Polcari

Research output: Contribution to journalArticlepeer-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 languageEnglish (US)
JournalPediatric Dermatology
DOIs
StateAccepted/In press - 2022

Bibliographical note

Publisher Copyright:
© 2022 Wiley Periodicals LLC.

Keywords

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

PubMed: MeSH publication types

  • Case Reports

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