Case report illustrates a variant in the ABCC6 gene linked with autosomal recessive pseudoxanthoma elasticum, emphasizing multidisciplinary assessment.
We present a case of a 23-year-old female with characteristic skin papules and angioid streaks characteristic of pseudoxanthoma elasticum (PXE), an autosomal recessive disorder of elastic fiber mineralization. Genomic sequencing revealed a heterozygous variant in the ABCC6 gene. Despite the absence of biallelic mutations, the clinical phenotype aligns with PXE. Our focus in this report is to highlight the importance of multidisciplinary assessment, genotype-phenotype correlation, and the diagnostic role of ophthalmic findings in patients with atypical or partial PXE presentations.
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Nagarajan et al. (2025) studied this question.
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