The inherited platelet disorders are a heterogeneous collection of rare diseases that are infrequently encountered in clinical practice. They are, however, fascinating abnormalities, which have taught us a great deal about normal platelet biochemistry and physiology. In this section of the presentation we will review disorders of the platelet membrane, platelet granule packaging disorders, the ...

Gingival fibromatosis is a rare and heterogeneous group of disorders that develop as slowly progressive, local or diffuse enlargements within marginal and attached gingiva or interdental papilla. In severe cases, the excess tissue may cover the crowns of the teeth, thus causing functional, esthetic, and periodontal problems, such as bone loss and bleeding, due to the presence of pseudopockets a...

Adults with bleeding disorders may present to their family physician with minor bleeding symptoms or hematologic laboratory abnormalities discovered during evaluation for surgery or another purpose. Identifying the small proportion of adults who have an underlying bleeding disorder as the cause for such signs or symptoms may be challenging. In cases of asymptomatic hematologic laboratory abnorm...

BACKGROUND Though rare in occurrence, patients with rare bleeding disorders (RBDs) are highly heterogeneous and may manifest with severe bleeding diathesis. Due to the high rate of consanguinity in many caste groups, these autosomal recessive bleeding disorders which are of rare occurrence in populations across the world, may not be as rare in India. OBJECTIVES To comprehensively analyze the ...

Hereditary hemorrhagic telangiectasia is an autosomal dominant disease in which arteriovenous communications are typically seen in the skin, mucosal surfaces, lungs, brain and gastrointestinal tract. This disease typically presents as epistaxis, gastrointestinal bleeding and arteriovenous malformations (in the brain and lungs). Although the epistaxis and gastrointestinal bleeding can result in ...

Ectodermal dysplasias (EDs)are a heterogenous group of hereditary disorders characterized by certain shared structural and functional abnormalities in tissues derived from the ectoderm [1]. They are characterized by deficient function of at least 2 ectodermal derivatives such as skin, hair, teeth and sweat glands. Although more than 170 different subtypes of ectodermal dysplasia have been ident...

AIM The aim of this report is to present a case of Glanzmann thrombasthenia (GT) with oral manifestations requiring periodontal management along with a discussion of the clinical, hematologic, and molecular level features of the disease. BACKGROUND GT is a rare hematological disorder with oral manifestations affecting platelets and clotting. It is characterized by spontaneous bleeding from mu...

Rare bleeding disorders account for about 3–5% of all inherited disorders. Due to the rarity and complexity diagnosing these disorders, their prevalence estimates vary greatly. There is currently no national registry rare across country has not been studied yet. Aim: estimate coagulation among Russian children. For this multicenter study, we used retrospective anonymous patient data collected d...

Congenital dyserythropoietic anaemias (CDAs) are very rare, heterogeneous hereditary red blood cell disorders characterized by ineffective erythropoiesis, erythroblast morphological abnormalities, haemolysis, and hypoglycosylation of red-blood-cell membrane proteins and lipids. There are four types (I-IV) of the disease identified, and all of them are associated with abnormal maturation and div...