Counting mast cells in gastrointestinal (GI) mucosal biopsies is becoming an increasingly common practice. The primary reason for this exercise is to evaluate for possible involvement by systemic ...mastocytosis (SM). However, the features of mastocytosis in GI biopsies are not well described. In addition, recent studies have suggested that increased mast cells may be involved in the pathogenesis of some cases of diarrhea-predominant irritable bowel syndrome (IBS); the term "mastocytic enterocolitis" has been proposed for such cases. As the baseline mast cell density in colonic biopsies from normal patients has not been established in large cohorts, there is no widely accepted threshold for what constitutes increased mucosal mast cells. The aims of this study were (1) to determine the utility of GI biopsies for the diagnosis of SM, (2) to characterize the clinical, histologic, and immunohistochemical features of mastocytosis in the GI tract, (3) to determine mast cell density in normal colonic mucosa from a large cohort of asymptomatic patients, and (4) to compare these findings with those from patients with diarrhea-predominant IBS. Twenty-four patients with SM involving the GI tract, 100 asymptomatic patients, and 100 patients with IBS (the latter 2 groups with histologically normal colonic biopsies) were included. For the mastocytosis group, 107 biopsies (70 involved by mastocytosis; 67 mucosal, 3 liver) from 20 women and 4 men were evaluated (median age 59 y). The most commonly involved site was the colon (19 patients, 95%), followed by ileum (86%), duodenum (80%), and stomach (54%). In 16 cases (67%), the first diagnosis of SM was made on the basis of GI biopsies. Seventeen patients had documented cutaneous mastocytosis. Fifteen of 17 patients who underwent bone marrow biopsy had marrow involvement by SM. Eighteen patients had indolent disease, and 6 had aggressive disease (including all 3 with liver involvement). The most common GI symptom was diarrhea, followed by abdominal pain, nausea, weight loss, bloating, vomiting, or reflux. Liver disease presented with hepatomegaly and ascites. Endoscopic abnormalities (observed in 62%) included erythema, granularity, and nodules. Histologically, involved biopsies were characterized by infiltrates of ovoid to spindle-shaped mast cells in aggregates or sheets in the lamina propria, sometimes forming a confluent band underneath the surface epithelium; 25% of biopsies had only focal involvement (single aggregate). Prominent eosinophils were seen in 44% of involved colonic/ileal biopsies and 16% of duodenal biopsies. Mast cells were highlighted by diffuse membranous staining for KIT and CD25. In the nonmastocytosis groups, all biopsies contained singly dispersed mast cells with no aggregates. The mean highest mast cell counts (in a single high-power field) for asymptomatic patients and IBS patients were 26 (range, 11 to 55) and 30 (range, 13 to 59), respectively. In summary, GI (especially colonic) biopsies can establish a diagnosis of SM in patients with GI symptoms. GI involvement is usually subtle and is often associated with prominent eosinophils, which may obscure the mast cell infiltrate. KIT and CD25 are invaluable markers for the diagnosis. Mast cell density in colonic mucosa from asymptomatic patients is highly variable. Although patients with diarrhea-predominant IBS on average have mildly increased mast cells, the overlap in range with that of control patients is too great for this difference to be clinically useful. These findings argue against the utility of counting GI mucosal mast cell in patients with chronic diarrhea.
Summary
Background. Skin lesions are the predominant clinical feature of the commonest form of mastocytosis. Mastocytosis is classified according to World Health Organization criteria. Determination ...of the levels of mast‐cell mediators or their metabolites reflects the mast‐cell burden. The extent of cutaneous mastocytosis can be assessed clinically using a scoring system (SCORing MAstocytosis; SCORMA Index) that we have developed.
Objective. Serum tryptase levels were compared with the SCORMA Index in a large group of paediatric and adult patients to investigate whether there was any correlation between the two.
Methods. The SCORMA Index in 64 patients (31 children and 33 adults) was compared with serum tryptase levels. The results of the first visit at which SCORMA and tryptase were evaluated were analysed.
Results. There was a positive correlation between the SCORMA Index and serum tryptase levels, indicating the value of the SCORMA Index in the assessment of mastocytosis with skin involvement.
Conclusion. The results of this study showed that the SCORMA Index is a useful tool for evaluating the severity of cutaneous mastocytosis. The correlation between the SCORMA Index and serum tryptase levels underlines the benefit of the SCORMA Index as a clinical tool. Repeated SCORMA Index measurements can provide a rapid impression of changes in the clinical state of mastocytosis. This is particularly relevant in children, because taking blood samples from this group is much more difficult. The well‐established methods for evaluation of disease severity may be expanded by the rapid SCORMA Index method.
In the last few years, de novo mutations in the GNB1 gene have been found to cause a neurodevelopmental disorder typically characterized by global developmental delay and hypotonia. Only 4 cases of ...maculopapular cutaneous mastocytosis in children with GNB1 mutations have been reported to date. Here, we describe another case of the condition with concomitant cutaneous mastocytosis.
Background: The efficacy and safety of UVA1 (340–400 nm) phototherapy were established by studies from European countries.
Purpose: Evaluate experience with UVA1 phototherapy for patients with ...cutaneous diseases in the United States.
Methods: A retrospective analysis of 92 cases of UVA1‐treated cutaneous conditions from four medical centers in the United States was performed.
Results: Two‐third of the patients showed a fair to good response (26–100% improvement) and one‐third of the patients showed a poor response (0–25% improvement). Diseases with a moderate to good response (51–100% improvement) included scleredema adultorum, hand or foot dermatitis, atopic dermatitis, morphea (medium or medium‐ to high‐dose UVA1), systemic sclerosis, and urticaria pigmentosa. Besides tanning, other adverse effects were found in 15% of patients, which include pruritus, erythema, tenderness, and burning sensation. Patients with skin types I–III responded better that those with a darker skin type.
Conclusion: UVA1 phototherapy is a useful and well‐tolerated treatment option for a variety of skin conditions.
The skin is one of the most frequent tissues affected in patients with mastocytosis, but cutaneous lesions are highly heterogeneous in shape, size, color, number, localization, and distribution. The ...World Health Organization recognizes 3 subtypes of cutaneous mastocytosis (CM): maculopapular CM (MPCM), diffuse CM, and mastocytoma of skin. An international task force of experts in mastocytosis has recently proposed subdividing MPCM into monomorphic and polymorphic, which could predict the duration of the disease in children. More research is warranted to develop an improved classification of CM that ideally should incorporate robust factors with prognostic impact on disease behavior.
Mastozytose bei Kindern Wassmer, Hanna; Hartmann, Karin
Monatsschrift Kinderheilkunde,
05/2023, Letnik:
171, Številka:
5
Journal Article
Recenzirano
Odprti dostop
Zusammenfassung
Die Mastozytose bei Kindern ist eine seltene Erkrankung, die durch eine abnorme Vermehrung von Gewebemastzellen gekennzeichnet ist. Es zeigen sich typische Hautveränderungen, die als ...makulopapulöse kutane Mastozytose, diffuse kutane Mastozytose oder Mastozytom klassifiziert werden. Ein Teil der Patientinnen und Patienten weist zudem Mastzellmediatorsymptome wie Juckreiz, Flush und Anaphylaxie auf. Bei vielen Kindern ist die Erkrankung durch einen benignen, meist selbstlimitierenden Verlauf charakterisiert; nur selten findet sich eine systemische Mastozytose mit extrakutaner Beteiligung und chronischem oder progressivem Verlauf. Therapeutisch werden in erster Linie H
1
-Antihistaminika eingesetzt, je nach Schwere bedarfsorientiert oder als Dauertherapie. Kinder, Eltern und Betreuungspersonen sollten sorgfältig über das Krankheitsbild und mögliche Trigger-Faktoren der Mastzellmediatorfreisetzung aufgeklärt werden. Für Kinder mit ausgeprägten Hautveränderungen und schweren Symptomen ist die Verordnung eines Adrenalin-Autoinjektors zur Notfallbehandlung empfehlenswert.
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