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Case Reports
. 2021 Jul;38(4):919-925.
doi: 10.1111/pde.14636. Epub 2021 May 26.

A case report of PHF6 mosaicism: Beyond the classic Börjeson-Forssman-Lehmann syndrome

Cristina Garcia-Melendo  1 , Esther Roé  1 , Benjamín Rodríguez-Santiago  2 , Victòria Amat-Samaranch  1 , Xavier Cubiró  1 , Lluís Puig  1 , Susana Boronat  3
Affiliations
Case Reports

A case report of PHF6 mosaicism: Beyond the classic Börjeson-Forssman-Lehmann syndrome

Cristina Garcia-Melendo et al. Pediatr Dermatol. 2021 Jul.

Abstract

We report a 6-year-old female with linear skin hyperpigmentation on the axillae and groin, intellectual disability, dysplastic teeth and nails, and facial dysmorphism who was diagnosed with a novel PHF6 pathogenic splicing variant. Males with PHF6 mutations have been associated with the X-linked recessive disorder Börjeson-Forssman-Lehmann, but females have a distinct phenotype which is likely modulated by X-inactivation.

Keywords: genetic diseases/mechanisms; pigmentary disorders.

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