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Iron deficiency anemia
Anemia of chronic disease
Hemolytic disease of the newborn
Glucose-6-phosphate dehydrogenase (G6PD) deficiency
Autoimmune hemolytic anemia
Pyruvate kinase deficiency
Paroxysmal nocturnal hemoglobinuria
Sickle cell disease (NORD)
Anemia of chronic disease
Folate (Vitamin B9) deficiency
Vitamin B12 deficiency
Acute intermittent porphyria
Porphyria cutanea tarda
Vitamin K deficiency
Immune thrombocytopenic purpura
Thrombotic thrombocytopenic purpura
Von Willebrand disease
Disseminated intravascular coagulation
Antithrombin III deficiency
Factor V Leiden
Protein C deficiency
Protein S deficiency
Polycythemia vera (NORD)
Essential thrombocythemia (NORD)
Langerhans cell histiocytosis
Monoclonal gammopathy of undetermined significance
Microcytic anemia: Pathology review
Non-hemolytic normocytic anemia: Pathology review
Intrinsic hemolytic normocytic anemia: Pathology review
Extrinsic hemolytic normocytic anemia: Pathology review
Macrocytic anemia: Pathology review
Heme synthesis disorders: Pathology review
Coagulation disorders: Pathology review
Platelet disorders: Pathology review
Mixed platelet and coagulation disorders: Pathology review
Thrombosis syndromes (hypercoagulability): Pathology review
Lymphomas: Pathology review
Leukemias: Pathology review
Plasma cell disorders: Pathology review
Myeloproliferative disorders: Pathology review
Kelly Johnson, MS
Elizabeth Nixon-Shapiro, MSMI, CMI
Mastocytosis, or clonal mast cell disease, is a rare disorder that leads to increased numbers of incorrectly functioning mast cells.
Mast cells are a kind of white blood cell that have many roles in the immune system, including allergic reactions.
There are two main categories of mastocytosis. In cutaneous mastocytosis, the mast cells accumulate only in the skin.
In systemic mastocytosis, mast cells also accumulate in other tissues, like the liver, spleen, lymph nodes, gastrointestinal tract, and, most commonly, bone marrow.
Generally, the signs and symptoms of mastocytosis are similar to an allergic reaction. They can range between categories and from mild to life-threatening.
Some examples are pain, flushing, malaise, headaches, memory and concentration difficulties, stomach aches, production of more than the usual amount of gastric juices, abdominal discomfort, nausea, bloating or diarrhea, and anaphylaxis which is a severe allergic reaction that can be deadly.
Now, within each main category of mastocytosis, there are additional forms. Their distinction can be based on more specific signs and symptoms.
For example, in the most common form of cutaneous mastocytosis, lesions appear on the skin’s surface as brownish, flat or elevated spots.
They may be surrounded by Darier’s signs, which are areas of skin that become red and itchy when scratched or rubbed.
In the rarest form, lesions aren’t present but the skin is rougher and thicker. Itching and blistering may also occur in individuals who are less than one year old.
Some skin changes may be present in systemic mastocytosis, but these forms also involve dysfunction in other tissues.
Mastocytosis is a rare disorder where mast cells are abnormally high in number (a type of white blood cell) and activated throughout the body. Mast cells play a role in the immune system and can be found in almost all tissues of the body.
Mastocytosis is divided into two categories; cutaneous mastocytosis, which only affects the skin, and systemic mastocytosis, which involves multiple organs. Symptoms depend on the involved organs, but can include skin rash, itching, flushing (redness), swelling, nausea, vomiting, diarrhea, abdominal pain, and shortness of breath.
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