Ghosal-type hematodiaphyseal dysplasia has been first described in 1986, as a steroid-dependant anemia with endosteal broadening of the long bone’s diaphyses and metaphaphyses, which makes a distinction with the peri...Ghosal-type hematodiaphyseal dysplasia has been first described in 1986, as a steroid-dependant anemia with endosteal broadening of the long bone’s diaphyses and metaphaphyses, which makes a distinction with the periosteal reaction in Camuratti- Engelmann’s disease and with Caffey’s disease. Extreme pallor is first noticed and leads to search for palpable thick long bones that are not always clinically obvious. The transmission of this rare entity seems to be autosomal recessive, with a common racial background from the Middle East and the Indian subcontinent. Anemia is considerably improved by steroids, which allow to avoid blood cells transfusions, but a minimum maintenance dose is necessary to keep the hemoglobin at a normal level probably during the whole life, involving iatrogen complications. The mechanism of anemia and the genetic cause of the disease are yet unknown.展开更多
文摘Ghosal-type hematodiaphyseal dysplasia has been first described in 1986, as a steroid-dependant anemia with endosteal broadening of the long bone’s diaphyses and metaphaphyses, which makes a distinction with the periosteal reaction in Camuratti- Engelmann’s disease and with Caffey’s disease. Extreme pallor is first noticed and leads to search for palpable thick long bones that are not always clinically obvious. The transmission of this rare entity seems to be autosomal recessive, with a common racial background from the Middle East and the Indian subcontinent. Anemia is considerably improved by steroids, which allow to avoid blood cells transfusions, but a minimum maintenance dose is necessary to keep the hemoglobin at a normal level probably during the whole life, involving iatrogen complications. The mechanism of anemia and the genetic cause of the disease are yet unknown.
