The Duchenne Muscular Dystrophy (DMD) gene variants are associated with the disease phenotypes. The pathogenic mutation, c.2293-1G>C, was detected in DMD gene in the proband and the fetus, which has not been reported in the literature.The minigene expression in vitro confirmed that c.2293-1G>C is responsible of aberrant splicing.

SLE is a chronic autoimmune disease characterized by multisystem inflammation, Vesiculobullous (VB) are different groups of oral disorders characterized by the formation of bullae. The aim of this report is to describe a case of a vesiculobullous disease in SLE.

Ectopic origin of the right coronary artery from the left sinus of Valsalva is an extremely rare anomaly of coronary arterial morphology, often incidentally discovered and clinically silent. We, hereunder, experienced a case of ectopic origin of the right coronary artery from the left sinus of Valsalva.

Injectable bleomycin is infrequently used for recalcitrant warts despite its efficacy, acceptable safety profile, and high patient satisfaction compared to other treatment modalities. We present an immunocompromised patient with a large recalcitrant wart successfully treated with intralesional bleomycin to provide greater clinical exposure, training, and practice with intralesional bleomycin.

Bronchogenic Cysts are embryologic malformations of the foregut and are rarely found head and neck region. Here we present a case of an upper scapular/lower posterior neck cystic mass which was initially suspicious for lymphatic malformation but confirmed by pathology to be a ectopic bronchogenic cyst.

This case report presents one important aspect of promoting ACP in Japanese culture, which is different from Western cultures. The report suggests the possibility that legal support contributes to the promotion of ACP, while considering differences in cultural contexts.

We described a rare case of nadroparin-induced skin necrosis with thrombocytopenia.LMWH therapy is used in thrombosis prophylaxis, it is important to recognize that skin necrosis can be a part of HIT early in its course and change heparin or LMWH to non-heparin anticoagulants such as director thrombin III inhibitors.

A total of 89 children had their urinary catheters removed 4 weeks after the operation.The children, diagnosed with urine leakage, were successfully repaired after the leakage occurred one year later at one time.The one-time success rate of this operation was 87.6% and the incidence of the urethral fistula was 12.6%

One of the most recently identified types is Leukocyte chemotactic factor 2 amyloidosis (LECT 2) which was found to be common in certain ethnic backgrounds. It is suggested that the diagnosis of this type is vital to prevent any therapy-related complications when it is erroneously diagnosed as AL amyloidosis.

Our case series showed that eculizumab is efficacious and safe in treating atypical hemolytic-uremic syndrome, as well as it has positive effects on quality of life. Further extensive studies are required to develop unified treatment guidelines.

A 75-year-old male presented with an immediately threatened grade IIb acute ischemia of the left leg due to thrombosis of a femoro-infrapopliteal prosthetic bypass graft. After an urgent Computed Tomography Angiography, an urgent graft thrombectomy was performed using a 5 Fr Fogarty catheter, which had a troublesome distal passage.

COVID 19 has created one of the world’s worst pandemics and is associated with various life-threatening complications, such as Cytomegalovirus (CMV) co-infection. We present a life-threatening CMV viremia co-infection in a none-immunocompromised COVID 19 patient to highlight our management approach and a comprehensive literature review.

Post-operative polyuria due to Diabetes Insipidus is a commonly reported complication of pituitary surgery. However, central DI post abdominal surgery is rare and may be related to pre-existing DI or prolonged surgery with intraoperative blood loss. A thorough workup needs to be done to exclude central DI in such patients.

The IDUA gene (MIM 252800) provides instructions for producing alpha-L-iduronidase, which is essential for the breakdown of glycosaminoglycans (GAGs). Mutations in the IDUA gene have been found to cause mucopolysaccharidosis type I (MIM 607014). This leads to the accumulation of GAGs within lysosomes causing different organs to be dysfunctional.

Combined large cell neuroendocrine carcinoma (LCNEC) and squamous cell carcinoma (SCC) of the H&N is exceptionally rare. We present the case of combined p16 negative SCC and LCNEC of the oropharynx treated with combination chemotherapy. This is the third reported case of combined neuroendocrine carcinoma and SCC of the oropharynx.

The clinical and radiographic dilemma of fibrous dysplasia versus osteomyelitis is highlighted in this case of a 4-year-old girl with a bony hard swelling over in mandiblular body and ramus. Differences between histopathological appearance and radiographic presentation with the possible differential diagnosis were discussed and compared with previous studies.

Periodontal Ehlers-Danlos syndrome type VIII (pEDS) is rare and caused by mutation in complement 1 subunit. Lack of attached gingiva, pretibial plaques, joint mobility, skin fragility, and easy bruising consolidate the diagnosis. We describe a case of de novo-mutation of pEDS with generalized periapical cemento dysplasia (PCD) and leukoencephalopathy.

Drug reaction with eosinophilia and systemic symptoms (DRESS) is part of Severe cutaneous adverse reactions. Allopurinol, an uric acid-lowering drug, had been incriminated in several cases of Allopurinol-induced Dress syndrome.Through this paper, we present a case of Allopurinol-induced DRESS syndrome with initial oral mucosal involvement.