6,887 results match your criteria Mastocytosis


Atypical maculopapular cutaneous mastocytosis showing a nevus spilus-like lesion.

Pediatr Dermatol 2018 Jun 22. Epub 2018 Jun 22.

Department of Dermatology, School of Medicine, KyungHee University, Seoul, Korea.

A 13-year-old Korean girl presented with a 7-year history of a pruritic, light-brown patch containing multiple 0.2- to 0.5-cm brownish-to-reddish maculopapules on the left anterior chest. Read More

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Autosomal dominant progressive hyperpigmentation and lentigines in a Japanese pedigree due to a missense mutation near the C-terminus of KIT.

Br J Dermatol 2018 Jun 19. Epub 2018 Jun 19.

Department of Dermatology, Nagoya University Graduate School of Medicine, Nagoya, Japan.

The transmembrane receptor tyrosine kinase (KIT), encoded by KIT, and the KIT ligand, encoded by KITLG, play crucial roles in the control of physiological and pathological skin pigmentation. The binding of KITLG to KIT regulates the migration, proliferation, differentiation and survival of melanocytes, and regulates melanogenesis and melanosome transfer. KITLG⁄KIT, which triggers the Ras⁄MAPK signaling pathway, plays crucial roles in melanin synthesis. Read More

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June 2018
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Statistical analysis of Goal Attainment Scaling endpoints in randomised trials.

Stat Methods Med Res 2018 Jan 1:962280218777896. Epub 2018 Jan 1.

1 Center for Medical Statistics, Informatics, and Intelligent Systems, Medical University of Vienna, Vienna, Austria.

Goal Attainment Scaling is an assessment instrument to evaluate interventions on the basis of individual, patient-specific goals. The attainment of these goals is mapped in a pre-specified way to attainment levels on an ordinal scale, which is common to all goals. This approach is patient-centred and allows one to integrate the outcomes of patients with very heterogeneous symptoms. Read More

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January 2018
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The Possible Role of Gene Variant Coding Nonfunctional Toll-Like Receptor 2 in the Pathogenesis of Mastocytosis.

Int Arch Allergy Immunol 2018 Jun 15:1-7. Epub 2018 Jun 15.

Department of Dermatology, Venereology and Allergology, Medical University of Gdansk, Gdansk, Poland.

Background: Data on the genetic predisposition to mastocytosis are scarce. The aim of this work was to study the association of single nucleotide polymorphisms of Toll-like receptor (TLR)-2, TLR-4, and TLR-9 genes in Polish patients with mastocytosis.

Objectives: The study comprised 137 patients with mastocytosis (102 cutaneous [60 children and 42 adults] and 35 systemic cases); 171 disease-free individuals were used as controls. Read More

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Impact of mast cells in depression disorder: inhibitory effect of IL-37 (new frontiers).

Immunol Res 2018 Jun 16. Epub 2018 Jun 16.

Molecular Immunopharmacology and Drug Discovery Laboratory, Department of Integrative Physiology and Pathobiology, Tufts University School of Medicine, Boston, MA, USA.

The purpose of this article is to study the involvement of inflammatory mast cells (MCs) in depression which may be inhibited by IL-37. We evaluate mast cells in depression on the basis of our previous experimental data, and using the most relevant studies reported in the literature. Dysfunction of mood, feelings, and thoughts is a major risk factor for several metabolic diseases and may influence the physiology of the body leading to depression. Read More

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Midostaurin in indolent systemic mastocytosis patients: an open-label phase 2 trial.

J Allergy Clin Immunol 2018 Jun 8. Epub 2018 Jun 8.

Department of Hematology, University Medical Center Groningen, University of Groningen, The Netherlands.

This is the first report on a trial using a Kit D816V targeting drug in indolent systemic mastocytosis. The results indicate midostaurin to be effective in reducing symptom severity and improving quality of life. Read More

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June 2018
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Feline maculopapular cutaneous mastocytosis: a retrospective study of 13 cases and proposal for a new classification.

J Feline Med Surg 2018 Jun 1:1098612X18776141. Epub 2018 Jun 1.

1 Animal Clinic, Brussels, Belgium.

Case series summary Cutaneous mastocytosis is a disorder rarely reported in veterinary dermatology and usually described as 'urticaria pigmentosa'. This study aimed to evaluate the diagnosis, treatment and outcome of 13 affected cats, selected from the files of a private referral dermatology practice within a period of 14 years. Breeds of the affected individuals included Sphynx (n = 9), Devon Rex (n = 2) and Sphynx/Devon Rex crossbreeds (n = 2). Read More

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[Bruton tyrosine kinase inhibition in dermatology and allergology].

Authors:
B Wedi

Hautarzt 2018 Jun;69(6):519-522

Klinik für Dermatologie, Allergologie und Venerologie, Comprehensive Allergy Center (CAC), Urticaria Center of Reference and Excellence (UCARE), European Competence Network of Mastocytosis (ECNM), Medizinische Hochschule Hannover, Carl-Neuberg-Str. 1, 30625, Hannover, Deutschland.

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Prevalence of CD30 immunostaining in neoplastic mast cells: A retrospective immunohistochemical study.

Medicine (Baltimore) 2018 May;97(21):e10642

UMR U.1037, Centre de recherche sur cancer de Toulouse, Université Paul-Sabatier.

Mastocytosis is a rare disease characterized by clonal neoplastic proliferation of mast cells (MCs). It ranges from skin lesions as cutaneous mastocytosis (CM) which may spontaneously regress to highly aggressive neoplasms with multiorgan involvement corresponding to some aggressive systemic mastocytosis (ASM), mast cell leukemia (MCL), and/or mast cell sarcoma (MCS).There is increasing evidence of CD30 expression in neoplastic MCs of the bone marrow. Read More

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May 2018
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Outcome of repeat anaesthesia after investigation for perioperative anaphylaxis.

Br J Anaesth 2018 Jun 10;120(6):1195-1201. Epub 2018 Apr 10.

Department of Clinical Immunology, Oxford, UK. Electronic address:

Background: Perioperative anaphylaxis (POA) is infrequent, but remains an important and potentially life-threatening complication of general anaesthesia. The diagnostic uncertainty surrounding the investigation of anaesthetic allergy poses numerous challenges. We aimed to inform practice by auditing the outcomes of repeat anaesthesia, after an investigation for previous POA. Read More

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Pediatric mastocytosis: long term follow up of 53 patients with whole sequencing of KIT. A prospective study.

Br J Dermatol 2018 May 22. Epub 2018 May 22.

Service de Dermatologie, Hôpital Necker- Enfants Malades, 149 rue de Sèvres, 75743, Paris, Cedex 15, France.

Objective: To describe the clinical evolution of a well characterized pediatric mastocytosis (PM) cohort. To analyze the relationship between KIT mutation and the clinical course.

Design: Prospective cohort study. Read More

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Coexistence of urticaria pigmentosa and thalassemia minor in a young adult.

Dermatol Pract Concept 2018 Apr 30;8(2):78-79. Epub 2018 Apr 30.

Department of Pathology, Ufuk University School of Medicine, Ankara, Turkey.

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April 2018
1 Read

[Systemic mastocytosis with associated clonal hematological non-mast-cell lineage disease: a case report].

Zhonghua Xue Ye Xue Za Zhi 2018 May;39(5):440

Department of Hematology, the First Affiliated Hospital of Nanjing Medical University, Nanjing 210029, China.

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May 2018
9 Reads

Case Report: Treatment of systemic mastocytosis with sunitinib.

F1000Res 2017 28;6:2182. Epub 2017 Dec 28.

Department of Oncology, Hematology and Palliative Care, Kreiskrankenhaus Waldbröl, Waldbröl, D-51545, Germany.

Mast cell activation disease typically presents as chronic multisystem polymorbidity of generally inflammatory ± allergic theme.  Presently, treatment of the rare, cytoproliferative variant systemic mastocytosis employs empirically selected therapies to impede mast cell mediator production and action and, when necessary, inhibition of proliferation. Some tyrosine kinase inhibitors (TKIs) have been used successfully in uncommon cases of systemic mastocytosis not bearing that disease's usual imatinib-resistant KIT mutation. Read More

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December 2017

Distribution of mast cell subtypes in interstitial cystitis: implications for novel diagnostic and therapeutic strategies?

J Clin Pathol 2018 May 15. Epub 2018 May 15.

Faculty of Health Sciences, University of Southampton, Southampton, UK.

Aims: To identify the presence and geographical distribution of mast cell (MC) subtypes: MC (tryptase positive-chymase negative) and MC (tryptase positive-chymase positive) in bladder tissue.

Methods: Bladder tissue was obtained from patients with painful bladder syndrome/interstitial cystitis (n=14) and normal histology from University Hospital Southampton tissue bank. Sequential tissue slices were immunohistochemically stained for MC subtypes using anti-MC tryptase (for MC and MC) and anti-MC chymase (for MC). Read More

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First Identification of an Inherited TPSAB1 Quintuplication in a Patient with Clonal Mast Cell Disease.

J Clin Immunol 2018 May 11. Epub 2018 May 11.

Laboratory of Allergic Diseases, National Institute of Allergy and Infectious Diseases, National Institutes of Health, Building 10, Room 11N240, MSC 1889, Bethesda, MD, 20892-1881, USA.

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Indolent Systemic Mastocytosis Manifesting as Protracted Anaphylactic Shock.

Indian J Crit Care Med 2018 Apr;22(4):311-313

Department of Oncosurgery, Apollo Gleneagles Hospitals, Kolkata, West Bengal, India.

Systemic mastocytosis is a rare disease due to abnormal proliferation of mast cells (MCs). A case of indolent systemic mastocytosis is presented here. After anesthetic induction for elective thyroid swelling with propofol and atracurium followed by endotracheal intubation, a 57-year-old female patient developed acute hypotension, sinus tachycardia, red rashes, increased airway pressure along with difficult ventilation, and desaturation. Read More

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Acute mast cell leukemia: A rare but highly aggressive hematopoietic neoplasm.

Diagn Cytopathol 2018 Jul 7;46(7):639-641. Epub 2018 May 7.

Biological Haematology Department, Pitié-Salpêtrière Hospital, Paris.

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July 2018
32 Reads

Endoglin is Highly Expressed in Human Mast Cells.

Appl Immunohistochem Mol Morphol 2018 May 4. Epub 2018 May 4.

Department of Oral Pathology, São Leopoldo Mandic Institute and Research Center.

Endoglin, known to be expressed in proliferating vessels, is of worth when evaluating microvessel density as a prognostic factor in many types of malignancies, including some subtypes of leukemia cells. In childhood acute lymphoblastic leukemia, endoglin is associated with adverse outcome. In bone marrow, endoglin identifies the repopulating hematopoietic stem cells. Read More

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Solitary mastocytoma presenting at birth.

Arch Craniofac Surg 2018 Apr 28. Epub 2018 Apr 28.

Department of Plastic and Reconstructive Surgery, Ajou University Hospital, Suwon, Korea.

Mastocytosis is a rare disease which occurs in both children and adults, and it can manifest as a solitary or multiple skin lesions. Both can cause cutaneous or systemic symptoms. Because of the heterogeneity of clinical presentation of mastocytosis and its rare prevalence, it can be hard to suspect the mastocytosis at the first time. Read More

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April 2018
5 Reads

The role of small molecule Kit protein-tyrosine kinase inhibitors in the treatment of neoplastic disorders.

Authors:
Robert Roskoski

Pharmacol Res 2018 Apr 25;133:35-52. Epub 2018 Apr 25.

Blue Ridge Institute for Medical Research, 3754 Brevard Road, Suite 116, Box 19, Horse Shoe, NC 28742-8814, United States. Electronic address:

The Kit proto-oncogene was found as a consequence of the discovery of the feline v-kit sarcoma oncogene. Stem cell factor (SCF) is the Kit ligand and it mediates Kit dimerization and activation. The Kit receptor contains an extracellular segment that is made up of five immunoglobulin-like domains (D1/2/3/4/5), a transmembrane segment, a juxtamembrane segment, a protein-tyrosine kinase domain that contains an insert of 77 amino acid residues, and a carboxyterminal tail. Read More

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Clinical spectrum of KIAA2022 pathogenic variants in males: Case report of two boys with KIAA2022 pathogenic variants and review of the literature.

Am J Med Genet A 2018 Jun 25;176(6):1455-1462. Epub 2018 Apr 25.

Department of Pediatrics, Queen's University, Kingston, Ontario, Canada.

KIAA2022 is an X-linked intellectual disability (XLID) syndrome affecting males more severely than females. Few males with KIAA2022 variants and XLID have been reported. We present a clinical report of two unrelated males, with two nonsense KIAA2022 pathogenic variants, with profound intellectual disabilities, limited language development, strikingly similar autistic behavior, delay in motor milestones, and postnatal growth restriction. Read More

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Preliminary in vitro and in vivo investigation of a potent platelet derived growth factor receptor (PDGFR) family kinase inhibitor.

Bioorg Med Chem Lett 2018 Jun 12;28(10):1781-1784. Epub 2018 Apr 12.

Department of Pharmaceutics and Medicinal Chemistry, Thomas J. Long School of Pharmacy and Health Sciences, Stockton, CA 95211, USA.

Aberrant expression of wild-type and mutant forms of the platelet-derived growth factor receptor (PDGFR) family of receptor tyrosine kinases has been implicated in various oncologic indications such as leukemias, gliomas, and soft tissue sarcomas. Clinically used kinase inhibitors imatinib and sunitinib are potent inhibitors of wild-type PDGFR family members, but show reduced binding to mutant forms. Here we describe compound 5 which binds to both wild-type and oncogenic mutant forms of PDGFR family members, and demonstrates both cellular and in vivo activity. Read More

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Can H -receptor upregulation and raised histamine explain an anaphylactoid reaction on cessation of ranitidine in a 19-year-old female? A case report.

Br J Clin Pharmacol 2018 Jul 18;84(7):1611-1616. Epub 2018 Apr 18.

Pharmacology, Leicester School of Pharmacy, De Montfort University, Leicester, UK.

The anaphylactoid reaction described follows cessation of ranitidine in a 19-year-old female with the disease cluster: mast cell activation syndrome, hypermobile Ehlers-Danlos syndrome and postural tachycardia syndrome. Anaphylaxis can give wide-ranging symptoms from rhinorrhoea and urticaria to tachycardia and system-wide, life-threatening, anaphylactic shock. Individuals with a disorder of mast cell activation can experience many such symptoms. Read More

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July 2018
3 Reads

Flushing Disorders Associated with Gastrointestinal Symptoms: Part 1, Neuroendocrine Tumors, Mast Cell Disorders and Hyperbasophila.

Clin Med Res 2018 Apr 12. Epub 2018 Apr 12.

University of Central Florida College of Medicine/HCA Consortium Graduate Medical Education, North Florida Regional Medical Center, 6500 W Newberry Rd, Gainesville, FL 32605

Flushing is the subjective sensation of warmth accompanied by visible cutaneous erythema occurring throughout the body with a predilection for the face, neck, pinnae, and upper trunk where the skin is thinnest and cutaneous vessels are superficially located and in greatest numbers. Flushing can be present in either a wet or dry form depending upon whether neural-mediated mechanisms are involved. Activation of the sympathetic nervous system results in wet flushing, accompanied by diaphoresis, due to concomitant stimulation of eccrine sweat glands. Read More

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Targeting Sphingosine Kinase Isoforms Effectively Reduces Growth and Survival of Neoplastic Mast Cells With D816V-KIT.

Front Immunol 2018 28;9:631. Epub 2018 Mar 28.

Mast Cell Biology Section, Laboratory of Allergic Diseases, National Institute of Allergy and Infectious Diseases, National Institutes of Health, Bethesda, MD, United States.

Mastocytosis is a disorder resulting from an abnormal mast cell (MC) accumulation in tissues that is often associated with the D816V mutation in KIT, the tyrosine kinase receptor for stem cell factor. Therapies available to treat aggressive presentations of mastocytosis are limited, thus exploration of novel pharmacological targets that reduce MC burden is desirable. Since increased generation of the lipid mediator sphingosine-1-phosphate (S1P) by sphingosine kinase (SPHK) has been linked to oncogenesis, we studied the involvement of the two SPHK isoforms (SPHK1 and SPHK2) in the regulation of neoplastic human MC growth. Read More

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March 2018
2 Reads

Idiopathic Mast Cell Activation Syndrome With Associated Salicylate Intolerance.

Front Pediatr 2018 27;6:73. Epub 2018 Mar 27.

Department of Pediatrics and Adolescent Medicine, University Hospital Erlangen, Friedrich Alexander University Erlangen-Nuremberg, Erlangen, Germany.

Idiopathic mast cell activation syndrome can be a rare cause for chronic abdominal pain in children. It remains a diagnosis by exclusion that can be particularly challenging due to the vast variety of possible clinical manifestations. We present a 13-year-old boy who suffered from a multitude of unspecific complaints over a long period of time. Read More

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A new role for mast cells as scavengers for clearance of erythrocytes damaged due to oxidative stress.

Immunol Lett 2018 Jul 7;199:23-35. Epub 2018 Apr 7.

Cellular and Molecular Immunology Laboratory, School of Life Sciences, Jawaharlal Nehru University, New Delhi, 110067, India. Electronic address:

Anemia, inflammation, and oxidative stress are interconnected. Erythrocytes are continuously exposed to oxidative stress, normally and during inflammatory diseases. Systemic mastocytosis and genetic depletion of mast cells affect anemia. Read More

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July 2018
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Systemic mastocytosis identified in two women developing fragility fractures during lactation.

Osteoporos Int 2018 Apr 4. Epub 2018 Apr 4.

Endocrine Centre of Excellence, Austin Health, Heidelberg, Australia.

Two women presenting with fragility fractures during lactation had bone mineral density (BMD) reduced more greatly than usually associated with lactation. The first woman was 29 years old with a BMD T-score of - 3.2 SD at the spine and- 2. Read More

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April 2018
1 Read

Mast cell disorders: Protean manifestations and treatment responses.

Ann Allergy Asthma Immunol 2018 Mar 28. Epub 2018 Mar 28.

Department of Medicine, University of California San Diego, San Diego, CA.

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March 2018
1 Read

Eosinophil phagocytosis in advanced systemic mastocytosis with eosinophilia.

Br J Haematol 2018 Jun 30;181(5):578. Epub 2018 Mar 30.

UGC de Hematología, Hospital Universitario Virgen del Rocío, Instituto de Biomedicina de Sevilla (IBIS)/CSIC/Universidad de Sevilla, Sevilla, Spain.

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June 2018
2 Reads

Systemic mastocytosis with concurrent multiple myeloma.

Blood 2018 Mar;131(13):1494

Victorian Comprehensive Cancer Centre.

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Tryptase increase on the first day of hymenoptera venom immunotherapy might be a predictor of future systemic reactions during treatment.

J Investig Allergol Clin Immunol 2018 Mar 28. Epub 2018 Mar 28.

Allergy Service, Hospital de la Princesa, Madrid, Spain.

Background And Objective: Serum tryptase (ST) decreases in long-term venom immunotherapy (VIT). A circadian tryptase variation with a small decrease has been found after sting challenge. Both findings have been related to successful VIT. Read More

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Bubble trouble: Cutaneous mastocytosis mistaken as non-accidental injury.

Pediatr Int 2018 Mar;60(3):320-321

Department of Dermatology, Royal Victoria Hospital, Belfast, Northern Ireland, UK.

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March 2018
4 Reads

A Case of Mast Cell Leukemia: A Review of the Pathophysiology of Systemic Mastocytosis and Associated Psychiatric Symptoms.

Psychosomatics 2018 Feb 12. Epub 2018 Feb 12.

Department of Psychiatry, Indiana University, Indianapolis, IN; Indiana University Health University Hospital, Indianapolis, IN. Electronic address:

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February 2018
6 Reads

Low frequency of acetyl salicylic acid hypersensitivity in mastocytosis: the results of a double-blind, placebo-controlled challenge study.

Allergy 2018 Mar 22. Epub 2018 Mar 22.

Department of internal medicine, section of Clinical Immunology, Erasmus University Medical Center, Rotterdam, The Netherlands.

Background: Patients with mastocytosis are at increased risk of anaphylaxis. The use of nonsteroidal anti-inflammatory drugs (NSAIDs) is often discouraged because of this reason. However, the actual prevalence and severity of NSAID-related hypersensitivity among patients with mastocytosis is unknown. Read More

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March 2018
3 Reads

Mastocytosis With Associated Essential Thrombocythemia.

Authors:
J Marcoval

Actas Dermosifiliogr 2018 Mar 19. Epub 2018 Mar 19.

Servei de Dermatologia, Hospital Universitari de Bellvitge, Hospitalet de Llobregat, Barcelona, España. Electronic address:

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March 2018
2 Reads

Anaphylactic reaction to an ultrasound contrast agent (Lumason) in a patient with systemic mastocytosis.

J Clin Ultrasound 2018 Mar 8. Epub 2018 Mar 8.

Mayo Clinic-Department of Radiology, Rochester, Minnesota.

Severe adverse reactions to ultrasound (US) contrast agents are rare, and only a few cases of anaphylaxis following the administration of US contrast agents have been reported, often without a defined etiology. We present a case of anaphylactic reaction to the injection of an US contrast agent in a patient with systemic mastocytosis, which highlights the disorder as a possible risk factor warranting additional consideration prior to performing a contrast-enhanced US examination. Read More

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March 2018
10 Reads

[Xanthelasmoid mastocytosis: a rare form of cutaneous mastocytosis].

Pan Afr Med J 2017 4;28:104. Epub 2017 Oct 4.

Service de Dermatologie et de Vénérologie du CHU Ibn Rochd, Casablanca, Maroc.

Mastocytosis is a rare disease characterized by the abnormal accumulation of mast cells in the skin and possibly in other organs. It can occur in a variety of forms; xanthelasmoid mastocytosis(XM) is a very rare form classified as papulo-nodular. Clinically, it appears as buff-yellow soft papules or nodules of variable size. Read More

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March 2018
1 Read

Venom anaphylaxis can mimic other serious conditions and disclose important underlying disease.

Ann Allergy Asthma Immunol 2018 Mar;120(3):338-339

Department of Dermatology and Allergy Center, Odense Research Center for Anaphylaxis, Odense, Denmark; Mastocytosis Center Odense University Hospital, Odense, Denmark.

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March 2018
5 Reads

The role of regulatory T cells and genes involved in their differentiation in pathogenesis of selected inflammatory and neoplastic skin diseases. Part II: The Treg role in skin diseases pathogenesis.

Postepy Dermatol Alergol 2017 Oct 31;34(5):405-417. Epub 2017 Oct 31.

Department of Dermatology, Venereology and Allergology, Medical University of Gdansk, Gdansk, Poland.

Regulatory FOXP3+ T cells (Tregs) constitute 5% to 10% of T cells in the normal human skin. They play an important role in the induction and maintenance of immunological tolerance. The suppressive effects of these cells are exerted by various mechanisms including the direct cytotoxic effect, anti-inflammatory cytokines, metabolic disruption, and modulation of the dendritic cells function. Read More

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October 2017

SLAM family member 8 is involved in oncogenic KIT-mediated signalling in human mastocytosis.

Exp Dermatol 2018 Jun;27(6):641-646

Department of Diagnostic Pathology, Kyoto University Hospital, Kyoto, Japan.

The signalling lymphocytic activation molecule family member 8 (SLAMF8)/CD353 is a member of the CD2 family of proteins. Its ligand has not been identified. SLAMF8 is expressed by macrophages and suppresses cellular functions. Read More

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June 2018
2 Reads

Interleukin 33 and interleukin 4 regulate interleukin 31 gene expression and secretion from human laboratory of allergic diseases 2 mast cells stimulated by substance P and/or immunoglobulin E.

Allergy Asthma Proc 2018 Mar;39(2):153-160

From the Laboratory of Molecular Immunopharmacology and Drug Discovery, Department of Integrative Physiology and Pathobiology, Tufts University School of Medicine, Boston. Massachusetts.

Background: Cytokine interleukin (IL) 31 has emerged as an important component of allergic and inflammatory diseases associated with pruritus, such as atopic dermatitis (AD) and mastocytosis. Mast cells (MC) are stimulated by allergic and nonallergic triggers, and play a critical role in such diseases by secreting histamine and tryptase as well as cytokines and chemokines. IL-33 has been reported to augment MC responses, but its effect on secretion of IL-31 is not known. Read More

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March 2018
3 Reads