Severe Early-Onset Manifestations of Pseudoxanthoma Elasticum Resulting from the Cumulative Effects of Several Deleterious Mutations in the ENPP1, ABCC6 and HBB Genes: Transient Improvement in Ectopic Calcification with Sodium Thiosulfate.

Severe Early-Onset Manifestations of Pseudoxanthoma Elasticum Resulting from the Cumulative Effects of Several Deleterious Mutations in the ENPP1, ABCC6 and HBB Genes: Transient Improvement in Ectopic Calcification with Sodium Thiosulfate. Br J Dermatol. 2019 Oct 24;: Authors: Omarjee L, Nitschke Y, Verschuere S, Bourrat E, Vignon MD, Navasiolava N, Leftheriotis G, Kauffenstein G, Rutsch F, Vanakker OM, Martin L Abstract 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 available for PXE to date. A young boy presented with severe early-onset systemic calcifications occurring in the skin as elastosis perforans serpiginosa (EPS) and in the arteries causing mesenteric and limb ischemia. Molecular and functional analyses revealed deleterious ABCC6, ENPP1 and HBB mutations. The diagnosis of severe PXE was retained and we coined the term of "PXE+ syndrome" to report the cumulative effects of the various mutations in this uncommon phenotype. Given severity, rapid progression and a potentially fatal prognosis, intravenous sodium thiosulfate (STS) was initiated at 25g 3-times/week for six months. Numerous side effects ...
Source: The British Journal of Dermatology - Category: Dermatology Authors: Tags: Br J Dermatol Source Type: research