Easy bruising due to giant platelet (possibly MYH9-related/Sebastian) syndrome
نویسندگان
چکیده
منابع مشابه
Five (un)easy pieces: the MYH9-related giant platelet syndromes.
cytoplasmic inclusions were first noted by May almost 100 years ago.7 FTNS is distinguished by the additional clinical features of high-tone sensorineural deafness, cataracts, and nephritis. APSM is similar to FTNS except that Döhle-like inclusions have not been described and it is distinguished from the classical X-linked form of Alport syndrome in that COL4A5 gene mutations are not present. F...
متن کاملAn approach to investigation of easy bruising
Easy bruising presents several investigative dilemmas in primary and secondary practice, not least because it raises the spectre of physical abuse. When, and to what extent, should general paediatricians investigate before referral to a specialist? When can it be safely concluded that an underlying bleeding disorder has been excluded, so that further investigations can focus on ruling out suspe...
متن کاملMYH9-related platelet disorders.
Myosin heavy chain 9 (MYH9)-related platelet disorders belong to the group of inherited thrombocytopenias. The MYH9 gene encodes the nonmuscle myosin heavy chain IIA (NMMHC-IIA), a cytoskeletal contractile protein. Several mutations in the MYH9 gene lead to premature release of platelets from the bone marrow, macrothrombocytopenia, and cytoplasmic inclusion bodies within leukocytes. Four overla...
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Platelet function was evaluated in 12 patients with the attention deficit disorder and lifelong history of easy bruising. Aggregation and 14C-serotonin secretion studies in platelet-rich plasma in response to adenosine diphosphate (ADP), epinephrine, and arachidonic acid did not reveal striking abnormalities. Secretion of adenosine triphosphate (ATP), ADP, beta-hexosaminidase, and beta-glucuron...
متن کاملInvestigating easy bruising in a child.
life and more often associated with injury or severe illness) or of gingival or mucocutaneous bleeding (suggesting a platelet abnormality or severe Von Willebrand disease) • A history of prolonged bleeding after surgery such as circumcision or tooth extraction • Any pain or joint swelling or reluctance to move a limb (as seen with haemarthroses) • The age of onset of bruising, since bruising is...
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ژورنال
عنوان ژورنال: Indian Journal of Dermatology, Venereology, and Leprology
سال: 2015
ISSN: 0378-6323
DOI: 10.4103/0378-6323.168354