A novel XPA splice‐site mutation identified in a 4‐year‐old Filipino girl with xeroderma pigmentosum

Author:

Reyes Haider H.1ORCID,Lin Yu‐Chen2,Hsu Chao‐Kai2,Guevara Bryan Edgar K.13ORCID

Affiliation:

1. Department of Dermatology Southern Philippines Medical Center Davao City Philippines

2. Department of Dermatology, National Cheng Kung University Hospital, College of Medicine National Cheng Kung University Tainan Taiwan

3. Brokenshire College School of Medicine Davao City Philippines

Abstract

AbstractWe herein report a case of a 4‐year‐old Filipino girl initially seen through online consultation from a general physician. She was born to a 22‐year‐old primigravid mother, with no birth complications nor a history of consanguinity in the family. During the 1st month of life, she developed hyperpigmented macules over the face, neck, upper back, and limbs, which were exacerbated by sun exposure. At 2 years old, she developed a solitary erythematous papule on the nasal area, which gradually enlarged within one year and developed into an exophytic ulcerating tumor extending to the right supra‐alar crease. Xeroderma pigmentosum and squamous cell carcinoma were confirmed by whole‐exome sequencing and skin biopsy, respectively.

Publisher

Wiley

Subject

Dermatology

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