Article
Severe early-onset manifestations of pseudoxanthoma elasticum resulting from the cumulative effects of several deleterious mutations in ENPP1, ABCC6 and HBB: transient improvement in ectopic calcification with sodium thiosulfate.
The British journal of dermatology - 1 Aug 2020
Omarjee L, Nitschke Y, Verschuere S, Bourrat E, Vignon M-D, Navasiolava N, Leftheriotis G, Kauffenstein G, Rutsch F, Vanakker O M, Martin L
Abstract excerpt
Pseudoxanthoma elasticum (PXE) is a rare disorder characterized by fragmentation and progressive calcification of elastic fibres in connective tissues. Overlap has been reported between the inherited PXE phenotype associated with ENPP1, ABCC6 or NT5E mutations and acquired PXE clinical manifestations associated with haemoglobinopathies induced by HBB mutations. No treatment is currently available for PXE. A young...
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