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| http://dx.doi.org/10.14309/crj.0000000000000410 | DOI Listing |
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gene mutational spectrum and ocular features in Mexican patients with pseudoxanthoma elasticum-related angioid streaks.
Ophthalmic Genet
March 2025
Genetics Department, Institute of Ophthalmology "Conde de Valenciana, Mexico City, Mexico.
Objective: Angioid streaks (AS) are uncommon retinal lesions associated with significant risk of vision loss due to choroidal neovascularization. About half of AS cases have a concurrent disease, most commonly pseudoxanthoma elasticum (PXE), a recessively inherited disorder that affects the skin, the eye, and vascular system and caused by biallelic mutations in the gene. In this work, we describe the ocular phenotype and the mutational profile in a cohort of 17 AS Mexican patients.
View Article and Find Full Text PDFA severe ABCC6-induced generalized arterial calcification of infancy overshadowed by the EGFR-associated neonatal inflammatory skin and bowel disease 2 in a Roma girl.
J Dermatol
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Department of Pediatrics, Hospital in Poprad, Poprad, Slovak Republic.
Neonatal inflammatory skin and bowel disease 2 is an epidermal growth factor receptor (EGFR)-associated autosomal recessive early-infantile disease with inflammatory skin, alopecia, progeroid features, electrolyte imbalance, recurrent infections, and premature death. Pseudoxanthoma elasticum (PXE) is another autosomal recessive skin disorder with some ocular and cardiovascular alterations, caused by variations in the ATP binding cassette subfamily c member 6 (ABCC6) gene. However, ABCC6-deficiency is, rarely, also presented as as an early/late-infantile autosomal recessive generalized arterial calcification of infancy.
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Objective: Present the diagnosis and therapeutic approach in a patient with pseudoxanthoma elasticum and ocular involvement.
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