ABSTRACT
Pseudoxanthoma elasticum (PXE) is an autosomal recessive multisystem disorder showing phenotypic heterogeneity giving rise to complex comorbidities. The most 'visible' signs are dermatological; however, these may be subtle and hidden from the view of an affected individual. Ophthalmic signs can be easily missed, and here we highlight the importance of a multisystem assessment. We report a patient who developed advanced sight loss due to maculopathy whose underlying PXE aetiology went unnoticed until subtle skin signs were noticed on the lateral aspect of his neck. He was aware of the skin changes. Careful review of his previous retinal imaging showed the presence of 'angioid streaks' and anatomic alteration at the outer retina-Bruch membrane associated with his prior history of choroidal neovascularisation. The diagnosis was subsequently confirmed by skin biopsy and genetic testing. This case highlights the subtlety of both dermatological and ophthalmic signs in PXE.
Subject(s)
Angioid Streaks , Pseudoxanthoma Elasticum , Angioid Streaks/complications , Angioid Streaks/diagnosis , Biopsy , Humans , Male , Pseudoxanthoma Elasticum/complications , Pseudoxanthoma Elasticum/genetics , Pseudoxanthoma Elasticum/pathology , Skin/pathologyABSTRACT
OBJECTIVE: Zuckerkandl's tubercle (ZT), when present, is an anatomical landmark by which surrounding structures such as the recurrent laryngeal nerve (RLN) can be identified intraoperatively. This study aimed to investigate the prevalence and anatomical characteristics of Zuckerkandl's tubercle by combining cadaveric dissection with a meta-analysis. METHODS: Through October 2016, an extensive search of PubMed, CNKI, ScienceDirect, EMBASE, BIOSIS, SciELO, and Web of Science was completed. Extracted data, along with the findings from our cadaveric dissections, were pooled into a meta-analysis to assess the prevalence and size of ZT and its relationship to the RLN. RESULTS: The pooled prevalence estimate of a ZT was 70.2% in the general population, 65.0% of which were considered Grade 0 tubercles (<1.0cm) and 35.0% Grade 1 (≥1.0cm). The RLN ran posteromedially to the ZT in 82.7% of cases, laterally to it in 8.7%, and on top of it in 8.6% of hemilarynges. CONCLUSION: RLN palsy is a common postoperative complication and cause for litigation following neck surgery. The ZT is a common component of the thyroid gland and with proper knowledge, surgeons can use it to reliably and quickly identify the RLN during operative procedures.
