ascorbic-acid and Mastocytosis

Systemic mastocytosis comprises disorders characterized by an accumulation of genetically altered mast cells in all organs and tissues due to an increased proliferation rate and reduced apoptosis of those pathologic mast cells. Release of their mediators can effectively influence organ function and can lead to systemic effects without inducing traces in routinely used laboratory parameters or imaging methods. In most cases, little invasive investigations allow diagnosing the disease and, hence, an appropriate therapy consisting of a basic medication with antihistamine and mast cell membrane-stabilizing compounds that should be supplemented, if required, by a medication adapted to individual symptoms, can be initiated. Because of the probably high prevalence of the disorder, systemic mastocytosis should be considered as a differential diagnosis in particular in the case of chronic gastrointestinal complaints such as abdominal pain/discomfort possibly associated with diarrhea, at an early stage.

Topics: Algorithms; Apoptosis; Ascorbic Acid; Biopsy; Bone Marrow; Codon; Combined Modality Therapy; Cromolyn Sodium; Delayed-Action Preparations; Diagnosis, Differential; DNA Mutational Analysis; Drug Therapy, Combination; Gastrointestinal Diseases; Histamine H1 Antagonists; Histamine H2 Antagonists; Humans; Ketotifen; Mast Cells; Mastocytosis; Phenotype; Proto-Oncogene Proteins c-kit

We report the history of a 15-year old patient with a hypermobile Ehlers-Danlos syndrome (hEDS) (his mother, his two brothers and his sister have the same phenotype as him). He suffers mainly from a severe mast cell activation syndrome (MCAS) with an overreaction of the skin to any kind of contact (water of the shower, clothes, bed sheets) but he has also fatigue, headaches, and rash. This impressive rash is exacerbated after the shower and he has the urge to rest («shower's sign»). We describe the MCAS and its easy, fast and very effective medication management, without any significant side effects as well as its frequent association with the hEDS. We finally introduce the original term of «MASED» to this MCAS, associated, linked or entangled to hEDS.. Nous présentons le cas d’un jeune patient âgé de 15 ans atteint d’un syndrome d’Ehlers-Danlos (SED) de type hypermobile (sa mère, ses deux frères et sa soeur présentent le même phénotype que lui). Il présente principalement un syndrome d’activation mastocytaire (SAMA) sévère avec une atteinte démesurée au niveau de la peau exposée au simple contact (avec l’eau, les draps, les vêtements), mais également de la fatigue, des céphalées ainsi que des éruptions qui sont exacerbées après la douche avec l’envie impérieuse de se reposer (le «signe de la douche»). Nous décrivons le SAMA, sa prise en charge médicamenteuse simple, rapide et efficace et dépourvue d’effets secondaires notables ainsi que son association fréquente au SED. Nous introduisons finalement le terme original de «SAMED» à ce SAMA associé, lié ou intriqué au SED.

Topics: Acetates; Adolescent; Antioxidants; Ascorbic Acid; Cetirizine; Cyclopropanes; Ehlers-Danlos Syndrome; Histamine H1 Antagonists, Non-Sedating; Histamine H2 Antagonists; Humans; Male; Mastocytosis; Quinolines; Ranitidine; Sulfides