Systemic mastocytosis is a clonal disorder of the mast cell and its progenitor cell. It is a rare disorder with unknown incidence in Greece, with an estimate of 2 cases per year in Great Britain. We present a case of an asymptomatic, 72-year-old man who was found to have ileocolitis on endoscopy. Histology revealed mast cells in lamina propria >15 HPF and biochemistry showed high levels of serum total tryptase. Molecular testing was positive for the mutation Asp816Val in exon 17 of . The patient met one major and two minor criteria for the diagnosis of systemic indolent mastocytosis (according to WHO classification). He has been treated prophylactically with H- and H-histamine receptor antagonists and remains asymptomatic.
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J Allergy Clin Immunol Pract
December 2024
CEREMAST, Dermatology Department, University Hospital, Toulouse, France.
Background: Indolent Systemic Mastocytosis (ISM) is a rare disease associated with numerous and diverse symptoms that significantly impact patients' overall health, psychological, emotional, and professional well-being, ultimately affecting their quality of life.
Objective: We aim to estimate the Disability-adjusted Life Year (DALY) of ISM to assess the burden for patients and society.
Methods: We used prospective and retrospective data on symptoms and quality of life from an ISM population recruited at the French expert center CEREMAST, to estimate Disability Weight allowing DALY calculation.
Allergy Asthma Proc
January 2025
From the Section of Allergy, Asthma and Immunology, Medicine and Pediatrics, Pennsylvania State University School of Medicine, Hershey, Pennsylvania and.
Patients with mast cell activation syndrome (MCAS) can be refractory to standard antimediator therapy. Alternative treatment options to reduce disease burden and improve quality of life are needed. To compile the evidence that supports the use of omalizumab for patients with refractory MCAS.
View Article and Find Full Text PDFCureus
November 2024
Dermatology, Imperial Dermatology, Hollywood, USA.
Isotretinoin (13-cis-retinoic acid) is a well-established systemic treatment for moderate to severe acne vulgaris, renowned for its ability to target multiple contributors to acne pathogenesis. However, its therapeutic potential extends beyond conventional acne management. This case report highlights its efficacy in treating recalcitrant pustular dermatosis, a condition that proved resistant to standard therapies and posed significant diagnostic challenges.
View Article and Find Full Text PDFItal J Pediatr
December 2024
Department of Health Sciences, University of Florence, Florence, 50139, Italy.
From a taxonomic point of view, Hymenoptera are subclassified into families: Apidae, including honeybees (Apis mellifera) and bumblebees (Bombus), and Vespidae, which, in turn, are divided into the subfamilies of Vespinae (wasps, including hornets, vespules, dolichovespules) and Polistinae (paper wasp). Hypersensitivity to Hymenoptera venom can be linked to immunological (IgE-mediated or non-IgE-mediated) and non-immunological mechanisms. Reactions are classified into local reactions, large local reactions, systemic reactions, toxic reactions, and unusual reactions.
View Article and Find Full Text PDFNihon Shokakibyo Gakkai Zasshi
December 2024
Department of Gastroenterology, Fukushima Medical University School of Medicine.
Already a rare presentation in patients with systemic mastocytosis (SM), chronic diarrhea is even rarer in those with mast cell leukemia (MCL), a subtype of SM. We present a case to illustrate the utility of lower gastrointestinal endoscopy with histological examination in the diagnosis of MCL in a patient with chronic diarrhea. A woman in her 70s presented with persistent diarrhea.
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