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Referee comments: Referee 1 (Hans-Peter Horny)

Posted by PLOS_ONE_Group on 10 Apr 2008 at 15:40 GMT

Referee 1's review (Hans-Peter Horny):

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N.B. These are the comments made by the referee when reviewing an earlier version of this paper. Prior to publication the manuscript has been revised in light of these comments and to address other editorial requirements.
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This is a very important study on the phenotype and genotype of mastocytosis pending on the disease onset. Facts and findings that were often presumed now have found a statistically underlined basis. Major emphasis is laid on clinical and molecular findings but also on statistics.


However, I have some minor points that should be addressed by the authors:

1. Histopathological findings were delineated extremely shortly. Immunohistochemistry especially indication on an expression of CD25 by mast cells is totally missing. It is hard to believe that histology in all sites always revealed dense compact mast cell infiltrates as a major diagnostic criterion. In my own experience up to 20% of bone marrows reveal a diagnosis of SM based on 3 minor criteria and compact infiltrates are absent.

2. In my own experience TMEP does not show a significant increase in mast cells and typical infiltrates of cutaneous mastocytosis are missing. Some experts even feel that TMEP is not a true mastocytosis.

3. Table 2: In the adult group of patients 2 cases of SM-AHNMD were mentioned. What was the subtype of the "AHNMD"? The abbreviation SM-AHNMD is not explained in the legend!

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