Cleft Lip and Palate is Common in PORCN-Related Focal Dermal Hypoplasia in Asians: Three New Case Reports and Literature Review.
Joshua C K Chan, Phoebe K W Wu, Wing Chung Yiu et al.
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Case in brief
The report describes three patients with focal dermal hypoplasia, an X-linked dominant disorder caused by loss-of-function variants in PORCN and characterized by abnormalities involving ectodermal, skeletal, craniofacial, and ocular structures. Each patient had a de novo novel variant. The authors also reviewed reported clinical features in Asian patients and compared them with literature focused on Caucasian patients, noting differences in the reported frequency of cleft lip and palate.
What made this case unusual
Cleft lip and palate was frequently reported among Asian patients in the review, whereas it was not reported in the Caucasian-focused literature examined by the authors.
Diagnostic / clinical pearl
In focal dermal hypoplasia, consider the reported ethnic differences in craniofacial features, including cleft lip and palate in Asian patients; the report also identifies de novo PORCN variants in three cases.
Why it matters
The review highlights that descriptions of this disorder may differ across ethnic groups, which can inform interpretation of its clinical spectrum.