Congenital factor X deficiency is a rare autosomal recessive bleeding disorder that presents with variable bleeding tendency and prolonged coagulation tests, prothrombin time, and partial thromboplastin time. Thromboembolic events have not been reported in patients with factor X deficiency yet. Herein, we report a patient with factor X deficiency who had recurrent venous thromboembolic events.

Congenital bleeding disorders account for approximately one in 10,000 births. Dentists are often anxious about delivering treatment to this special group of patients. In the Irish Republic, patients with inherited bleeding disorders have their dental care co-ordinated centrally at the National Centre for Hereditary Coagulation Disorders (NCHCD), St James's Hospital, Dublin. Dental care is norma...

BACKGROUND Hereditary angioedema is a rare autosomal dominantly inherited immunodeficiency disorder characterized by potentially life-threatening angioedema attacks. OBJECTIVE We aimed to investigate the clinical and genetic features of a family with angioedema attacks. METHODS The medical history, clinical features and C1-INH gene mutation of a Turkish family were investigated and outcomes...

primary immune thrombocytopenia is an acquired bleeding disorder with no clinically apparent cause of thrombocytopenia. clinical indicators of itp include easy bruising of the skin, prolonged bleeding on injury, mucocutaneous lesions such as petechiae and ecchymosis, epistaxis, gastrointestinal bleeding, hematuria and bleeding from the gums. it is important for a dentist to be aware of the clin...

Introduction: Maxillary osteomyelitis is a rare phenomenon. If it occurs, evaluation for underlying disease especially osteopetrosis must be considered. Osteomyelitis occurs as a complication in 10% of the cases of osteopetrosis. Case report: This is a case report of maxillary osteomyelitis presented in a 15-year old boy with osteopetrosis.  In this case, the disease represented mainly with ...

Hereditary hyperferritinaemia-cataract syndrome (HHCS) is a rare differential diagnosis of hereditary haemochromatosis. It should be suspected in patients with raised ferritin levels, but no evidence of iron overload, and in the absence of mutations in the HFE gene. Awareness of this condition prevents unnecessary liver biopsies and allows accurate genetic counselling since HHCS is an autosomal...

Hereditary angioedema is an autosomal dominant disorder of the complement system in which there is a deficiency of the inhibitor of the activated first component of complement. We have previously reported on three generations of a family with classic hereditary angioedema. Three members of this family have now developed IgA nephropathy. The association of hereditary angioedema with various immu...