Background: Mastocytosis is a rare, heterogeneous group of disorder with abnormal increase of mast cells in one or more organ systems. Objective: To evaluate the demographic and clinical features of cutaneous mastocyt...Background: Mastocytosis is a rare, heterogeneous group of disorder with abnormal increase of mast cells in one or more organ systems. Objective: To evaluate the demographic and clinical features of cutaneous mastocytosis (CM). Methods: Records of 55 patients with cutaneous mastocytosis were retrospectively analysed. Results: Of the 22 females and 33 males, 80%had urticaria pigmentosa/ maculopapular CM and 20%had mastocytoma. Of all cases, 81.8%had first lesions in childhood. The most common presentation was involvement of trunk together with extremities. Thirteen (23.6%) patients had history of bulla; Darier’s sign was positive in 34 of 38 patients. Itching was the most common complaint, provocated by hot weather/bath. Conclusion: Clinical presentations of urticaria pigmentosa/maculopapular CM and mastocytoma are similar regarding gender, age of onset, age of diagnosis, and presence of Darier’s sign and history of bulla. In contrast to mastocytoma, urticaria pigmentosa/maculopapular CM lesions were frequently located on trunk together with extremities.展开更多
Background: Bullous mastocytosis is an unusual variant of mast cell disease with widespread bullae as the main cutaneous feature induced by mast cell proteases that cause dermoepidermal separation. Case Report: A rare...Background: Bullous mastocytosis is an unusual variant of mast cell disease with widespread bullae as the main cutaneous feature induced by mast cell proteases that cause dermoepidermal separation. Case Report: A rare case of diffuse cutaneous bullous mastocytosiswith pachydermia and unusually extensive skin folding is described in a 3-week-old girl. The diagnosis was confirmed by immunohistochemistry with Giemsa stain, the naphthol ASD chloroacetate esterase reaction and elevated blood levels for tryptase, histamine in serum and histamine and 1.4-methylimidazol acetic acid in the 24-hour urine. Blood cell count was normal, as were thrombocytosis and leukocytosis. FACS analysis of the bone marrow aspiration material showed 1% mast cells. No c-Kit 816 [Asp→ Val] somatic mutation was found. Systemic involvement of other organs was excluded. Discussion: The prognosis of c-Kit-negative diffuse bullous mastocytosis is not known. Regular blood controls are mandatory, and screening for germ cell ovarian cancer and bone marrow controls should be performed as well.展开更多
文摘Background: Mastocytosis is a rare, heterogeneous group of disorder with abnormal increase of mast cells in one or more organ systems. Objective: To evaluate the demographic and clinical features of cutaneous mastocytosis (CM). Methods: Records of 55 patients with cutaneous mastocytosis were retrospectively analysed. Results: Of the 22 females and 33 males, 80%had urticaria pigmentosa/ maculopapular CM and 20%had mastocytoma. Of all cases, 81.8%had first lesions in childhood. The most common presentation was involvement of trunk together with extremities. Thirteen (23.6%) patients had history of bulla; Darier’s sign was positive in 34 of 38 patients. Itching was the most common complaint, provocated by hot weather/bath. Conclusion: Clinical presentations of urticaria pigmentosa/maculopapular CM and mastocytoma are similar regarding gender, age of onset, age of diagnosis, and presence of Darier’s sign and history of bulla. In contrast to mastocytoma, urticaria pigmentosa/maculopapular CM lesions were frequently located on trunk together with extremities.
文摘Background: Bullous mastocytosis is an unusual variant of mast cell disease with widespread bullae as the main cutaneous feature induced by mast cell proteases that cause dermoepidermal separation. Case Report: A rare case of diffuse cutaneous bullous mastocytosiswith pachydermia and unusually extensive skin folding is described in a 3-week-old girl. The diagnosis was confirmed by immunohistochemistry with Giemsa stain, the naphthol ASD chloroacetate esterase reaction and elevated blood levels for tryptase, histamine in serum and histamine and 1.4-methylimidazol acetic acid in the 24-hour urine. Blood cell count was normal, as were thrombocytosis and leukocytosis. FACS analysis of the bone marrow aspiration material showed 1% mast cells. No c-Kit 816 [Asp→ Val] somatic mutation was found. Systemic involvement of other organs was excluded. Discussion: The prognosis of c-Kit-negative diffuse bullous mastocytosis is not known. Regular blood controls are mandatory, and screening for germ cell ovarian cancer and bone marrow controls should be performed as well.
