Mastocytose

The mastocytoses are orphan Maladies. They touch the children like the adults, all the ethnos groups without discrimination of sex.

In a case on two, the mastocytose appears before the two years age and, in forty percent of the cases, the disease regresses with adolescence without one being able to still explain it today. 2 forms are distinguished:

the cutaneous Mastocytose : presence of one or more lesions on the skin
the systemic Mastocytose : presence of lesions on the skin and/or internal lesions reaching various bodies.

The family forms of mastocytose (with-less the two cases in the same family), are considered rarer to date at less than ten percent of the patients.

The mastocytoses are characterized by the abnormal proliferation of cells called Mastocyte S in various bodies, skin, bone, mucous membranes of the digestive tracts and sometimes in the most serious cases, osseous marrow, the liver and spleen.

The mastocytes belong to the cells implied in the defense of the organization against the infections and have a beneficial crucial role for the organization, but if the mastocyte dysfonctionne it is then implied in the mastocytose, whose origin is the change of a receiver called C-kit. This change involves an anarchistic proliferation of the mastocytes. It is the release of mediators, and in particular of histamine, by a phenomenon of degranulation of the mastocytes, which causes the appearance of many variable symptoms from one individual to another.

The most frequent symptoms are

a cutaneous attack (small red or brown spots being able to inflate after being rubbed)
of the symptoms related to the release of the substances contained in the mastocytes: abdominal faintnesses, hypotension, sweats, pains, diarrhea, even allergic shock with loss of consciousness; these demonstrations can be caused by an insect bite, the absorption of certain food or drugs, a stress,…
an osseous attack: condensing lesions or on the contrary Osteoporosis with risk of fractures
a digestive attack: diarrhea with Malabsorption at the origin of a slimming, increase in the size of the liver or spleen
a hematologic attack: Anemia, Thrombopénie, Leucopenia

The mastocytose is sometimes associated with a hematologic disease (Leucémie, Lymphome…)

The diagnostic confirmation rests on the proportioning of the tryptase (substance released by the mastocytes and increased in the event of mastocytose) and on the histological proof of the infiltration of the fabrics (skin, osseous marrow, disgestif tube…) by the mastocytes.

Sometimes the treatment especially symptomatic (antihistamines, Corticoïdes, ousting of the allergic situiations with accident risk) but is called upon the Chimiothérapie in the most serious forms.

External bonds

Afirmm, French Association for the Initiatives of Research on Mastocyte and Mastocytoses
Mastocytoses, Pr Jean Luc Verret, www.sfdermato.com
Card Orphanet

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