Focal dermal hypoplasia (Goltz syndrome) with concurrent growth hormone deficiency and response to therapy.

Abstract

A toddler presented with failure to thrive and dysmorphic features since birth. On examination, she was found to have a cleft lip, syndactyly, hypopigmented patchy skin lesions and patchy alopecia. The baseline haematological evaluation was normal. Given the syndromic features, whole exome sequencing was performed and revealed a heterozygous pathogenic variant in exon 8 of the PORCN gene, associated with focal dermal hypoplasia. Despite adequate nutrition, no significant improvement was observed in height and weight. Further evaluation revealed growth hormone deficiency and the patient was initiated on growth hormone therapy. She displayed a good response to treatment on follow-up visits. Goltz syndrome is a rare form of ectodermal dysplasia and its association with growth hormone deficiency is exceedingly rare. Here, we report a case of focal dermal hypoplasia associated with growth hormone deficiency and its subsequent response to therapy.