A Patient With Focal Dermal Hypoplasia Syndrome and Renal Involvement due to a Novel Mutation in the PORCN Gene

Luis E. Becerra-Solano, Liliana Chacon, Dinorah Morales-Mata, Efrain Monroy-Marquez, Eunice Lopez-Munoz, Jose E. Garcia-Ortiz


Focal dermal hypoplasia (FDH) is an uncommon X-linked dominant entity associated with mutations on the PORCN gene. FDH is characterized by cutaneous, skeletal, dental, ocular, and soft tissue defects. Here we report a female patient with an illustrative clinical case of FDH as well as renal malformations and a novel deleterious mutation on PORCN gene.

Int J Clin Pediatr. 2017;6(1-2):28-32
doi: https://doi.org/10.14740/ijcp277w


Focal dermal hypoplasia; Goltz-Gorlin syndrome; Genitourinary malformation; PORCN gene mutation

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