In cases of suspicion of SM help can also be drawn from analysis of mutation in KIT(D816V) in peripheral blood using sensitive PCR-technologyTo set the diagnosis of systemic mastocytosis, 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 mastocytosis (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 mastocytosis
Another known but rare mast cell proliferation disease is mast cell sarcoma. Classification
Mastocytosis can occur in a variety of forms:

Cutaneous mastocytosis (CM)
The most common cutaneous mastocytosis is maculopapular cutaneous mastocytosis, 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 mastocytosis that affects adults. [2] MPCM and TMEP can be a part of indolent systemic mastocytosis.
History
Sandifer syndrome was first described in 1964 by Austrian neurologist Marcel Kinsbourne in The Lancet. Kinsbourne named the syndrome after his mentor, British neurologist Paul Sandifer, who had initially cared for the patients described in Kinsbournes case reports. See also
List of eponymously named diseases

References


== External links ==