Diagnosis of urticaria pigmentosa (cutaneous<unk> , see above) can often be done by seeing the characteristic lesions that are dark brown and fixed. A small skin sample (biopsy) may help confirm the diagnosis. In case of suspicion of systemic disease the level of serum tryptase in the blood can be of help. If the base level of s-tryptase is elevated, this implies that the<unk>  can be systemic. In cases of suspicion of SM help can also be drawn from analysis of mutation in KIT(D816V) in peripheral blood using sensitive PCR-technology To set the diagnosis of systemic<unk> , certain criteria must be met. Either one major + one minor criterium or 3 minor criteria has to be fulfilled: Major criterion * Dense infiltrates of >15 mast cells in the bone marrow or an extracutaneous organ Minor criteria * Aberrant phenotype on the mast cells (pos. for CD2 and/or CD25) * Aberrant mast cell morphology (spindle-shaped) * Finding of mutation in KIT(D816V) * S-tryptase >20 ng/ml Other mast cell diseases Other types of mast cell disease include: * Monoclonal mast cell activation, defined by the World Health Organization definitions 2010, also has increased mast cells but insufficient to be systemic<unk>  (in World Health Organization Definitions) * Mast cell activation syndrome – has normal number of mast cells, but all the symptoms and in some cases the genetic markers of systemic<unk>  * Another known but rare mast cell proliferation disease is mast cell sarcoma. Classification<unk>  can occur in a variety of forms: Cutaneous<unk>  (CM) * The most common cutaneous<unk>  is maculopapular cutaneous<unk> , previously named papular urticaria pigmentosa (UP), more common in children, although also seen in adults. Telangiectasia macularis eruptiva perstans (TMEP) is a much rarer form of cutaneous<unk>  that affects adults.2 MPCM and TMEP can be a part of indolent systemic<unk> . This should be considered if patients develop any systemic symptoms * Generalized eruption of cutaneous<unk>  (adult type) is the most common pattern of<unk>  presenting to the dermatologist, with the most common lesions being macules, papules, or nodules that are disseminated over most of the body but especially on the upper arms, legs, and trunk * Diffuse cutaneous<unk> ' has diffuse involvement in which the entire integument may be thickened and infiltrated with mast cells to produce a peculiar orange color, giving rise to the term "homme orange." Cutaneous<unk>  in children usually presents in the first year after birth and in most cases vanishes during adolescence. Systemic<unk>  (SM) Immunohistochemistry for c-KIT highlights mast cells (darkly stained) in the mucosa of the small intestine. Systemic<unk>  involves the bone marrow in the majority of cases and in some cases other internal organs, usually in addition to involving the skin. Mast cells collect in various tissues and can affect organs where mast cells do not normally inhabit such as the liver, spleen and lymph nodes, and organs which have normal populations but where numbers are increased. In the bowel, it may manifest as mastocytic enterocolitis. However, normal ranges for mast cell counts in the gastrointestinal tract mucosa are not well established in the literature, and depend upon the exact location (e.g. right versus left colon), gender, and patient populations (such as asymptomatic patients versus patients with chronic diarrhea of unknown etiology). Quantitative mast cell stains may yield little diagnostic information, and further research studies are warranted to determine whether "mastocytic enterocolitis" truly represents a distinct entity. There are five types of systemic<unk> : * Indolent systemic<unk>  (ISM). The most common SM (>90%) * Smouldering systemic<unk>  (SSM) * Systemic<unk>  with associated hematological neoplasm (SM-AHN) * Aggressive systemic<unk>  (ASM) * Mast cell leukemia (MCL)
Mastocytosis
Monocytosis
Plasmacytosis
Lymphocytosis
Neutropenia
Macrocytosis
Neuroacanthocytosis
Neutrophilia