Systemic mastocytosis (SM) is a rare disease with abnormal proliferation and infiltration of mast cells in the skin, bone marrow, and viscera including the mucosal surfaces of the digestive tract. Gastrointestinal (GI) symptoms occur in 14%-85% of patients with systemic mastocytosis. The GI symptoms may be as frequent as the better known pruritus, urticaria pigmentosa, and flushing. In fact most recent studies show that the GI symptoms are especially important clinically due to the severity and chronicity of the effects that they produce. GI symptoms may include abdominal pain, diarrhea, nausea, vomiting, and bloating. A case of predominantly GI systemic mastocytosis with unique endoscopic images and pathologic confirmation is herein presented, as well as a current review of the GI manifestations of this disease including endoscopic appearances. Issues such as treatment and prognosis will not be discussed for the purposes of this paper.
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http://dx.doi.org/10.3748/wjg.14.7005 | DOI Listing |
Allergol Select
December 2024
Division of Allergy and Immunology, Department of Dermatology, Venerology and Allergology, Charité - Universitätsmedizin Berlin, Berlin, Germany.
In allergology, clinical registries fill knowledge gaps of epidemiology, mechanisms of allergic diseases, and real-world treatment outcomes. Considering the continuous rise of allergic diseases worldwide, registries become increasingly important for the optimization and harmonization of patient care. In the current review, we present four ongoing allergy-focused registries initiated in Germany.
View Article and Find Full Text PDFRMD Open
January 2025
Assistance Publique-Hôpitaux de Paris (AP-HP), Groupement Hospitalier Pitié-Salpêtrière, Centre de Référence des maladies auto-immunes et auto-inflammatoires systémiques rares de l'adulte d'Ile-de-France, Centre et Martinique, Service de Médecine Interne 2, Institut E3M, Paris, France, paris, France.
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.
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