Hereditary thrombocytopenias are rare bleeding disorders, which cause a deficiency of platelets in early infancy. This group of disorders is sometimes associated with abnormal phenotypes, like absence of radius. Diagnosis of this type of thrombocytopenia is usually difficult; other causes of thrombocytopenia, such as immune disorders and infections, must be ruled out. The symptoms of hereditary...

A hemophilic pseudotumor is one of the rarer complications of hemophilia that results from repetitive bleeding resulting in an encapsulated mass of clotted blood and necrosed tissue. These have become rarer over the years with better treatment modalities for bleeding disorders like factor replacement. In this case report, we describe the natural history and clinical course of a patient with hem...

gastrointestinal (gi) bleeding in pediatric patients has several causes. vascular malformation of the small bowel is a rare disease leading to pediatric gi bleeding. to our knowledge, few reports describe ultrasound and computed tomography findings of venous malformations involving the small bowel. we present a case of long-segmental and circumferential vascular malformation that led to gi blee...

A mistaken diagnosis of child abuse can occur in a number of medical conditions, many of which can be readily diagnosed by experienced paediatricians. Bleeding disorders offer a greater challenge, especially when court proceedings may demand their exclusion. Some of these disorders are rare but more prevalent in areas which have a high incidence of consanguinity. We advocate two stages of labor...

Severe thrombocytopenia with bleeding is rarely reported in children with brucellosis, and recurrent epistaxis is extremely rare. Brucellosis with hemorrhage should be differentiated from viral hemorrhagic fever, malignancy, and other blood disorders. Bone marrow aspiration (BMA) is mandatory to differentiate from other blood diseases. An 8-year-old boy was admitted with recurrent epistaxis, pe...

Von Willebrand disease and haemophilia A are the two most common inherited bleeding disorders. Despite the relatively high frequency of those two bleeding disorders in the general population, reports of their coexistence together or of combined coagulopathies in general are rare. We describe a 1-year-old male with confirmed mild haemophilia A co-existing with mild type 1 VWD. The 1year old male...

The coagulation factor genes were among the first to be cloned and sequenced, beginning in the early 1980s. Now, in 2013, the detailed genetic structure of all of the identified constituents of the hemostatic process is well documented. The purpose of this minireview is to highlight current knowledge and the potential translational utility of genetic sequence information for 3 categories of ble...

Background: Congenital factor XIII (FXIII) deficiency is one of the rarest bleeding disorders with a prevalence of one per 2 million in the general population. The disorder is accompanied by a high rate of life-threatening bleeding. Due to normal results of routine coagulation tests, diagnosis of the disorder is challenging, but molecular methods can be used for precise diagnosis. Direct mutati...

Necrotizing gingival disorders are rare conditions of the gingival tissues. Patients typically present with severe discomfort, halitosis, bleeding, and ulcerated oral tissues. This condition will typically present in patients who are under psychological stress, malnourished, and/or who are immunosuppressed. This case report will present a patient with acute ulcerative necrotizing gingivitis (AN...