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Case Reports
. 2022 Jul;39(4):609-612.
doi: 10.1111/pde.15007. Epub 2022 May 6.

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

Malina Yamashita Peterson  1 , Brooke Hanson  2 , Ingrid Polcari  2   3
Affiliations
Case Reports

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

Malina Yamashita Peterson et al. Pediatr Dermatol. 2022 Jul.

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.

Keywords: mutation; neutropenia/diagnosis; neutropenia/genetics; skin abnormalities/diagnosis; skin abnormalities/genetics.

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Conflict of interest statement

No conflict of interest.

Figures

FIGURE 1
FIGURE 1
Male patient has diffuse macular hyper‐ and hypopigmentation on sun‐exposed areas including the dorsal hand (A) and elbow (B) and sun‐protected areas including the abdomen (C)
FIGURE 2
FIGURE 2
Female patient has diffuse generalized macular hyper‐ and hypopigmentation including her lower extremities (2A) and thickened nails with slightly raised nail beds (2B)
See this image and copyright information in PMC

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