Wolfram Syndrome Type 2: A Systematic Review of a Not Easily Identifiable Clinical Spectrum

Background: Wolfram syndrome (WS) is a rare autosomal recessive disorder that is characterized by the presence of diabetes mellitus, optic atrophy and hearing loss, all of which are crucial elements for the diagnosis. WS is variably associated with diabetes insipidus, neurological disorders, urinary tract anomalies, endocrine dysfunctions and many other systemic manifestations. Since Wolfram and Wagener first described WS in 1938, new phenotypic/genotypic variants of the syndrome have been observed and the clinical picture has been significantly enriched. To date, two main subtypes of WS that associated with two different mutations are known: WS type 1 (WS1), caused by the mutation of the wolframine gene (WS1; 606201), and WS type 2 (WS2), caused by the mutation of the CISD2 gene (WS2; 604928). Methods: A systematic review of the literature was describe the phenotypic characteristics of WS2 in order to highlight the key elements that differentiate it from the classic form. Conclusion: WS2 is the rarest and most recently identified subtype of WS; its clinical picture is partially overlapping with that of WS1, from which it traditionally differs by the absence of diabetes insipidus and the presence of greater bleeding tendency and peptic ulcers.

Axenfeld-Rieger Syndrome: A Case Report with Literature Review

Axenfeld–Rieger syndrome (ARS) is a rare autosomal dominant disorder that has both systemic and ocular anterior segment dysgenesis. The ocular manifestations include posterior embryotoxon, iris and anterior angle abnomalies with a high risk of glaucoma and blindness. The systemic manifestations can include craniofacial abnomalies such as maxillary hypoplasia, hypodontia, oligodontia and microdont.

Morning Glory Syndrome associated with Autosomal Dominant Alport Syndrome with a Heterozygous COL4A4 Mutation

Morning glory syndrome (MGS) is a rare congenital optic disc anomaly with a characteristic fundal finding with severe visual impairment. It may occur in association with various systemic manifestations, even though most of the reported cases were isolated. A 6-year-old male visited the nephrology clinic with a history of microscopic hematuria and at the age of 12 years, he was diagnosed thin glomerular basement membrane nephropathy by kidney biopsy. After the following years, the patient had progressive deterioration of visual acuity, and diagnosed as MGS. Whole Exome Sequencing of this patient and his mother revealed heterozygous COL4A4 mutations [c.81_86del (p.Ile29_Leu30del)]. It is more reasonable to consider MGS seen in this patient as a coincidental finding of autosomal dominant Alport syndrome. To our knowledge, this case represents the first case report of autosomal dominant Alport syndrome associated with MGS.

Clinico-Epidemiological Profile of Patients with Psoriasis in a Tertiary Care Hospital of Western Nepal

INTRODUCTION: Psoriasis is a common, chronic, inflammatory and proliferative condition of the skin which poses a significant health problem in general population. It is clinically characterized by erythematous plaques covered by silvery white scales, associated with systemic manifestations in many organ systems. MATERIAL AND METHODS: This is a descriptive study conducted at the Department of Dermatology, Universal College of Medical Sciences, Bhairahawa, Nepal. All psoriasis patients who gave consent were clinically examined and proforma documentation including patient’s clinical and demographic details was studied. RESULTS: Fifty two psoriasis patients were studied. The median age was 40 years and male: female ratio was 1.7:1 with 33 (63.5%) male and 19 (36.5%) female psoriasis patients. The most common clinical type of psoriasis observed according to morphology was chronic plaque psoriasis 45 (86.54%) and according to involvement of anatomical site was nail psoriasis 33 (63.5%). This study showed that 30 (57.7%) had no symptoms of pruritus and pain and 29 (55.8%) of psoriatic cases had seasonal variation. The commonest treatment modality was a combination of oral and topical medication 29 (55.8%). CONCLUSION: Psoriasis is a common skin disorder associated with systemic manifestations seen by dermatologists. This study outlines the clinico-epidemiological profile of patients with psoriasis which can provide further guidance for taking appropriate measures in diagnosing, providing adequate treatment, and undertaking various preventive measures among psoriasis patients.

Rosai-Dorfman Disease of Bone and Soft Tissue

Context.— Rosai-Dorfman disease is a rare histiocytic proliferative disorder of unknown pathogenesis that may be diagnostically difficult in extranodal sites. It is commonly an unsuspected diagnosis when arising in bone and soft tissue, especially when it presents without associated lymphadenopathy. Its variable clinical presentation and nonspecific imaging findings make the diagnosis quite challenging, particularly in small biopsies. The problem is compounded by its less-characteristic histomorphologic features in comparison with nodal disease. Awareness of the potential diagnostic pitfalls in Rosai-Dorfman disease of bone and soft tissue should raise the degree of diagnostic accuracy. Objective.— To review the clinical manifestations, imaging characteristics, and histomorphologic features of Rosai-Dorfman disease of bone and soft tissue along with a brief discussion of its differential diagnosis, pathogenesis, and current management. Data Sources.— Thorough review of the literature with focus on clinical manifestations, imaging findings, key histomorphologic features, pathogenesis, and treatment. Conclusions.— The diagnosis of Rosai-Dorfman disease of bone and soft tissue may be quite challenging because of its variable clinical presentation and nonspecific imaging findings. It may be asymptomatic without systemic manifestations or associated lymphadenopathy. The definitive diagnosis relies on histopathologic identification of the characteristic S-100–positive histiocytes demonstrating emperipolesis. Bone and soft tissue lesions tend to have lower numbers of characteristic histiocytes and less conspicuous emperipolesis and often demonstrate areas of fibrosis or storiform spindle cell areas resembling fibrohistiocytic lesions. Awareness of these unusual features is necessary in order to consider Rosai-Dorfman disease in the differential diagnosis when confronting these rare and often misleading lesions.

A clinical study of skin manifestations in diabetes at a tertiary hospital in Kerala

<p class="abstract"><strong>Background:</strong> Though extensive data is available on diabetes and its systemic manifestations, research about the skin lesions in those afflicted with diabetes is scarce. The aim of this study was to understand dermatological manifestations in diabetes.</p><p class="abstract"><strong>Methods:</strong> A hospital based cross sectional study was carried out among 100 randomly selected diabetic patients afflicted with skin lesions due to diabetes.<strong></strong></p><p class="abstract"><strong>Results:</strong> Out of 73 patients having cutaneous infections, 71.2% were having fungal infections. Out of 18 having bacterial infections, 38.9% were having furuncles. Out of 52 having fungal infections, 63.5% were having dermatophytosis. Out of 14 cases of candidal infections, the most common was intertrigo in 35.7%. Out of 33 cases of dermatophytosis, <em>T. cruris</em> was the most common in 54.5%. Out of 82 patients in whom we suspected dermatoses strongly associated with diabetes, the most common condition was pruritus in 36.6% of the cases.</p><p class="abstract"><strong>Conclusions:</strong> Bacterial skin infections and dermatophytosis were the most common diabetic dermatological lesions in the present study.</p>

The pediatric common variable immunodeficiency — from genetics to therapy: a review

Common variable immunodeficiency (CVID) is the most prevalent antibody deficiency, characterized by remarkable genetic, immunological, and clinical heterogeneity. The diagnosis of pediatric CVID is challenging due to the immaturity of the immune response and sustained actively developing antibody affinity to antigens and immunological memory that may overlap with the inborn error of immunity. Significant progress has been recently done in the field of immunogenetics, yet a paucity of experimental and clinical studies on different systemic manifestations and immunological features of CVID in children may contribute to a delayed diagnosis and therapy. In this review, we aimed at defining the variable epidemiological, etiological, and clinical aspects of pediatric CVID with special emphasis on predominating infectious and non-infectious phenotypes in affected children.Conclusion: While pediatric CVID is a multifaceted and notorious disease, increasing the pediatricians’ awareness of this disease entity and preventing the diagnostic and therapeutic delay are needed, thereby improving the prognosis and survival of pediatric CVID patients. What is Known:• CVID is an umbrella diagnosis characterized by complex pathophysiology with an antibody deficiency as a common denominator.• It is a multifaceted disease characterized by marked genetic, immunological, and clinical heterogeneity.. What is New:• The diagnosis of pediatric CVID is challenging due to the immaturity of innate and adaptive immune response.• Increasing the pediatricians’ awareness of CVID for the early disease recognition, timely therapeutic intervention, and improving the prognosis is needed.

Multimodal Imaging of Waldenstrom Macroglobulinemia-Associated Hyperviscosity-Related Retinopathy Treated with Plasmapheresis

While plasmapheresis is well known to significantly improve both retinal findings and systemic manifestations associated with Waldenstrom macroglobulinemia, few reports exist documenting changes in optical coherence tomography angiography (OCT-A). The authors present a case of a patient with Waldenstrom macroglobulinemia who had resolution of white-centered peripheral retinal lesions and parafoveal outer nuclear layer hyperreflective material following plasmapheresis. Applying image analysis software to before and after OCT-A images, the authors were able to show an objective decrease in retinal capillary and large vessel density following plasmapheresis. This technique can be used to guide treatment and surveillance for patients with hyperviscosity-related retinopathy.

Clinical determinants of coronavirus disease COVID-19 manifestation

The article presents the review of modern publications on the assessment of the factors which have impact on susceptibility, clinical course and outcomes of COVID-19 infection. Statistical data on rate of increased blood pressure and adverse clinical signs of infection disease in different populations are shown. The important role of angiotensin-converting enzyme 2 as functional cellular receptor for coronavirus and its participation in multiple systemic manifestations of COVID-19 are presented. The mechanisms of damage effects of cigarette smoking in virus pneumonia have been described. According to literature data, the relationship between metabolic disorders related to obesity and risk of severe coronavirus course is emphasized. From a pathophysiological point of view, an explanation is given for the occurrence of threatening complications in patients with a new coronavirus infection in the presence of diabetes mellitus — massive lung damage, acute respiratory distress syndrome, prothrombotic condition, venous and arterial thrombosis.