Others have suggested there is no objective definition of what constitutes macroglossia. Some propose a distinction between true macroglossia, when histologic abnormalities correlate with the clinical findings of tongue enlargement, and relative macroglossia, where histology does not provide a pathologic explanation for the enlargement. Common examples of true macroglossia are vascular malformations, muscular enlargement and tumors; whilst Down syndrome is an example of relative macroglossia. Pseudomacryglossia refers to a tongue that is of normal size but gives a false impression of being too large in relation to adjacent anatomical structures. The Myer classification subdivides macroglossia into generalized or localized. Treatment
Treatment and prognosis of macroglossia depends upon its cause, and also upon the severity of the enlargement and symptoms it is causing. No treatment may be required for mild cases or cases with minimal symptoms. Speech therapy may be beneficial, or surgery to reduce the size of the tongue (reduction glossectomy). Treatment may also involve correction of orthodontic abnormalities that may have been caused by the enlarged tongue. Treatment of any underlying systemic disease may be required, e.g. radiotherapy. Epidemiology
Macroglossia is uncommon, and usually occurs in children. Macroglossia has been reported to have a positive family history in 6% of cases. The National Organization of Rare Disorders lists macroglossia as a rare disease (fewer than 200,000 individuals in the US). References


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Congenital dyserythropoietic anemia type IV (CDA IV) has been described with typical morphologic features of CDA II but a negative acidified-serum test. Presentation
CDA type IV is characterized by mild to moderate splenomegaly. Hemoglobin is very low and patients are transfusion dependent. MCV is normal or mildly elevated. Erythropoiesis is normoblastic or mildly to moderately megaloblastic. Nonspecific erythroblast dysplasia is present. Genetics
Congenital dyserythropoietic anemia type IV is an autosomal dominant inherited red blood cell disorder characterized by ineffective erythropoiesis and hemolysis resulting in anemia. Circulating erythroblasts and erythroblasts in the bone marrow show various morphologic abnormalities. Affected individuals with CDAN4 also have increased levels of fetal hemoglobin. Diagnosis
Treatment
Treatment consists of frequent blood transfusions and chelation therapy. Potential cures include bone marrow transplantation and gene therapy. See also
Congenital dyserythropoietic anemia
Thalassemia
Hemoglobinopathy
List of hematologic conditions

References
Further reading
Congenital dyserythropoietic anemia at the US National Institutes of Health Home Genetic Reference]


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