Bernard Soulier Syndrome; A Rare Bleeding Disorder

Tripathi, Preeti; Karthika, K; Pati, Hara Prasad; Tyagi, Seema

doi:10.18311/ijmds/2018/18917

Cited by 3 publications

(1 citation statement)

References 9 publications

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“…El defecto subyacente es una deficiencia o disfunción de la glicoproteína GPIb-V-IX receptor para el factor de Von Willebrand, requerido para la hemostasia primaria. 45,46 Sus manifestaciones orales son equimosis, petequias en la piel y mucosas, epistaxis, y hemorragia severa en traumatismos y procedimientos quirúrgicos. 33…”

Section: Trombastenia De Glanzmannunclassified

Manifestaciones orales de trastornos hematológicos no neoplásicos

Ortega¹,

Ortega²

2020

Revista De La Asociación Dental Mexicana

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Hematological alterations may be the first sign in the oral cavity and symptoms vary depending on the cell line that is affected: Erythrocytes, leukocytes and platelets. The formation of blood cells are held in the bone marrow through a process called hematopoiesis, which is responsible for training, development and specialization in all its functional blood cells, they move from pluripotent stem cell to hematopoietic cells mature emerging to peripheral blood. The dentist must be able to identify the different signs in the oral cavity that could suggest that the patient has a haematological disorder, which could complicate dental treatment. The timely identification of these signs through a thorough physical examination and the complete clinical history prevents complications from occurring in the patient and may put their lives at risk, so when finding any sign suggestive of a hematological disorder should refer to the patient with the hematologist.

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Section: Trombastenia De Glanzmannunclassified

Manifestaciones orales de trastornos hematológicos no neoplásicos

Ortega¹,

Ortega²

2020

Revista De La Asociación Dental Mexicana

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Bernard-Soulier Syndrome: Diagnosis and Management

Ghasemi,

Dorgalaleh

2023

Congenital Bleeding Disorders

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Bernard Soulier syndrome: a rare, frequently misdiagnosed and poorly managed bleeding disorder

et al. 2021

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Bernard Soulier syndrome is a rare, congenital platelet bleeding disorder, with autosomal recessive inheritance. It is characterised by macrothrombocytopenia and platelet dysfunction, leading to mucocutaneous bleeding noted in early childhood. This entity poses an important diagnostic challenge, and blood smear and DNA sequencing are paramount for the correct diagnosis. Differential diagnosis includes May-Hegglin anomaly, Glanzmann Thrombasthenia and von Willebrand disease; it is also often misdiagnosed as idiopathic thrombocytopenic purpura. We report a 68-year-old man diagnosed with von Willebrand disease for three decades, admitted with gastrointestinal bleeding, anaemia and severe thrombocytopenia. Replacement with von Willebrand factor did not stop the haemorrhage, suggesting another aetiology for the bleeding disorder. Corticosteroids and intravenous immune globulin were also ineffective. Genetic sequencing showed a homozygous mutation in GP1BA gene, thus establishing the correct diagnosis.

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Bernard Soulier Syndrome; A Rare Bleeding Disorder

Abstract: ABSTRACT

Cited by 3 publications

References 9 publications

Manifestaciones orales de trastornos hematológicos no neoplásicos

Manifestaciones orales de trastornos hematológicos no neoplásicos

Bernard-Soulier Syndrome: Diagnosis and Management

Bernard Soulier syndrome: a rare, frequently misdiagnosed and poorly managed bleeding disorder

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