Abstract
Systemic elastorrhexis is a multisystem genetic disorder characterised by dystrophic mineralization of soft connective tissues in a number of organs, including the skin, the eyes and the arterial blood vessels. Although the eye and skin findings have for years attracted the attention of ophthalmologists and dermatologists, the systemic nature of the disorder has not received sufficient attention among internists and many patients with this disorder have undoubtedly been unrecognized. We reported a case of systemic elastorrhexis redressing the diagnosis of vascular leucoencephalopathy of an unknown aetiology for many years.
Highlights
Systemic elastorrhexis, Gronblad-Strandberg-Touraine syndrome or pseudoxanthoma elasticum is a rare systemic inherited autosomal recessive disease, causing progressive mineralization and fragmentation of the elastic fibres, characterized by its clinical heterogeneity and various affected tissues, the most affected being cutaneous, ocular, and arterial [1].Patient and observationA 58 year-old-man, with past family history of consanguinity, hypertension and a personal history of idiopathic hypertension for 10 years was admitted at the department of neurology, Hassan II University Hospital Center for status epilepticus with demential and tetrapyramidal syndromes
Resonance magnetic imaging of the brain revealed a vascular leucoencephalopathy with numerous supraprotuberantial lesions of low intense signal T1 and hypersignal T2 and flair
The diagnostic of systemic elastorrhexis was suspected and confirmed by the biopsy of the affected skin showing in the middermis a degenerated, fragmented and irregularly clumped elastic fibers of a granular appearance (Figure 2)
Summary
Gronblad-Strandberg-Touraine syndrome or pseudoxanthoma elasticum is a rare systemic inherited autosomal recessive disease, causing progressive mineralization and fragmentation of the elastic fibres, characterized by its clinical heterogeneity and various affected tissues, the most affected being cutaneous, ocular, and arterial [1]. The cytologic, bacteriologic, treponema serology and cerebrospinal fluid pressure were normal. During his hospitalization a dermatological exam for lesions in the patient's neck was required and found multiples small yellowish papules with size ranging from 1 to 5 mm, organized in reticulated pattern on the posterolateral side of the neck (Figure 1). The age of their appearance wasn't precise. The diagnostic of systemic elastorrhexis was suspected and confirmed by the biopsy of the affected skin showing in the middermis a degenerated, fragmented and irregularly clumped elastic fibers of a granular appearance (Figure 2). The genetic study was not done because of the lack of molecular biology's specialized laboratory in our country
Sign-in/Register to view highlights & summary Talk to us
Join us for a 30 min session where you can share your feedback and ask us any queries you have
Schedule a callDisclaimer: All third-party content on this website/platform is and will remain the property of their respective owners and is provided on "as is" basis without any warranties, express or implied. Use of third-party content does not indicate any affiliation, sponsorship with or endorsement by them. Any references to third-party content is to identify the corresponding services and shall be considered fair use under The CopyrightLaw.
