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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.
- Pituitary disorders
- Dermatology
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Footnotes
Contributors ND and JJ were responsible for drafting the text, sourcing and editing the clinical images, investigation of the results, drawing original diagrams and algorithms, and critical revision for important intellectual content. BA and SK gave final approval of the manuscript. BA is the guarantor and is responsible for the overall content.
Funding The authors have not declared a specific grant for this research from any funding agency in the public, commercial or not-for-profit sectors.
Case reports provide a valuable learning resource for the scientific community and can indicate areas of interest for future research. They should not be used in isolation to guide treatment choices or public health policy.
Competing interests None declared.
Provenance and peer review Not commissioned; externally peer reviewed.