Pseudoxanthoma elasticum veiled as vasculitis: shedding light on an uncommon disorder and an in-depth review of the literature.

Pseudoxanthoma Elasticum (PXE) is a rare genetic disorder caused by an autosomal recessive mutation in the ABCC6 gene. It manifests with distinctive clinical symptoms impacting the skin, eyes, and cardiovascular system, along with an elevated risk of cardiovascular diseases. We present a case of a 34-year-old male patient who was initially referred to the rheumatology clinic for evaluation due to suspected large vessel vasculitis. The patient's primary complaint was severe hemifacial pain radiating to the neck and upper limb. Radiological imaging studies unveiled substantial vascular narrowing and collateral vessel formation, prompting further investigation to exclude systemic vasculitis. Intriguingly, the patient also exhibited cutaneous manifestations, which were later confirmed via skin biopsy as consistent with PXE. An ophthalmological examination further revealed the presence of the classic PXE findings of angioid streaks. Given the rarity of PXE and its multifaceted clinical presentation, it can be particularly challenging to diagnose and manage. As such, cases like the one presented here may necessitate a referral to a rheumatologist for evaluation of potential systemic involvement. To provide a comprehensive perspective on PXE, we conducted a systematic review of case reports published in the past decade in English, collected from PubMed, Scopus, and the Directory of Open Access databases. The analysis of these cases will be discussed to shed light on the diversity of PXE's clinical features and the diagnostic and management dilemmas it poses and to facilitate ongoing exploration and research into this intricate condition, ultimately leading to improved care for individuals affected by PXE.

Clouston Syndrome: Report of a Jordanian Family with GJB6 Gene Mutation.

Ectodermal dysplasias (ED) encompass a collection of conditions wherein the development of two or more structures derived from the ectoderm exhibits abnormal patterns. One example of such a rarity within the spectrum of ectodermal dysplasias is hidrotic ectodermal dysplasia, also known as Clouston syndrome. This particular variant is distinguished by a triad of clinical characteristics, which encompass partial-to-complete alopecia, nail dystrophy, and palmoplantar hyperkeratosis. It stands as a scarcely encountered autosomal-dominant inherited disorder, resulting from a mutation in the GJB6 gene that encodes the gap junction protein connexin 30. We hereby document the case of a forty-five-year-old Jordanian woman who presented with alopecia affecting the scalp, eyebrows, and eyelashes, in addition to nail dystrophy. Interestingly, she did not manifest palmoplantar keratoderma. It is worth mentioning that several members of her extended family also manifested similar clinical features. Subsequent genetic testing conclusively established the diagnosis of Clouston syndrome. In light of this diagnosis, comprehensive counseling was extended to the patient.

Risk of Covid-19 infection after resection of high grade transitional cell carcinoma with renal impairment.

INTRODUCTION AND IMPORTANCE: Covid-19 pandemic has had huge impact on health care system and put the health care system under strain, so efforts made to minimize the elective surgeries however some surgeries especially those for high risk malignant tumors cannot be postponed.The aim of this case report is to highlight the importance of screening cancer patients and those with co-morbidities such as renal impairment for Covid-19 and encouraging them to get vaccinated before undergoing elective surgeries. CASE PRESENTATION: We report a case of an 80 year old male patient with renal impairment who developed Covid-19 infection after transurethral resection of high grade transitional cell carcinoma of urinary bladder. CLINICAL DISCUSSION: Although intra-hospital contagion of Covid-19 is not rare, increased risk of acquiring Covid-19 among cancer patient particularly if they have co-morbidities like renal impairment should be kept in mind and strict protective measures for Covid-19 for those patients should be done before, during and after the procedure. CONCLUSION: We theorized that patients with high grade transitional cell carcinoma of urinary bladder should be screened for Covid-19 and get vaccinated before the procedure.