TY - JOUR
T1 - A novel XPA splice-site mutation identified in a 4-year-old Filipino girl with xeroderma pigmentosum
AU - Reyes, Haider H.
AU - Lin, Yu Chen
AU - Hsu, Chao Kai
AU - Guevara, Bryan Edgar K.
N1 - Funding Information:
We extend our gratitude to Dr. Karen Lee P, Alabado-Laurel for her guidance, and Yu-Chen Lin and Chao-Kai Hsu of the Department of Dermatology, National Cheng Kung University Hospital, College of Medicine for their valuable input and for helping us out, especially in the genetic aspect of this case.
Publisher Copyright:
© 2023 Australasian College of Dermatologists.
PY - 2023/5
Y1 - 2023/5
N2 - We 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.
AB - We 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.
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U2 - 10.1111/ajd.14015
DO - 10.1111/ajd.14015
M3 - Article
C2 - 36866916
AN - SCOPUS:85149468703
SN - 0004-8380
VL - 64
SP - e165-e167
JO - Australasian Journal of Dermatology
JF - Australasian Journal of Dermatology
IS - 2
ER -