We present two pediatric cases of xanthelasmoid mastocytosis presenting as isolated mastocytomas, which are notable histopathologically for their hypervascularity. [ncbi.nlm.nih.gov]

• Developmental Delay

  De novo monoallelic mutations in the GNB1 gene, encoding a β subunit of heterotrimeric G proteins, cause a newly recognized disorder with the typical clinical picture of severe developmental delay/intellectual disability, hypotonia and extrapyramidal [ncbi.nlm.nih.gov]

• Vaginal Bleeding

  A woman presented in the late second trimester with an anaphylactoid reaction, rash, uterine contractions, and vaginal bleeding. Skin biopsy revealed perivascular mast-cell infiltration. Her urinary histamine excretion was markedly elevated. [ncbi.nlm.nih.gov]

Mast cell activation disease: a concise practical guide for diagnostic workup and therapeutic options. J Hematol Oncol, 4(10), 10.1186/1756-8722-4-10 [ii] Hartmann K, et al. (2016). [mastattack.org]

A bone scan, GI workup, and identification of the D816V c-kit mutation can also be helpful in cases where the diagnosis requires confirmation. [msdmanuals.com]

Mast cell activation disease: a concise practical guide for diagnostic workup and therapeutic options. J Hematol Oncol. 2011;4:10. González de Olano D, Alvarez-Twose I, Esteban-López MI, et al. [thermofisher.com]

The pattern of aeroallergen and food sensitization and asthma in atopic patients with mastocytosis did not differ from that found in patients without mastocytosis but a comprehensive allergic workup (including skin prick testing, total and specific IgE [worldallergy.org]

The mean SCORMA Index decreased after treatment from 38 to 26. [ncbi.nlm.nih.gov]

OBJECTIVE: To characterize the clinical features, response to therapy, evolution and prognosis of cutaneous mastocytosis in children. [ncbi.nlm.nih.gov]

Etiology Mutations in the KIT gene (4q11-q12) have been identified in patients with MCM. However, this mutation is rare in the pediatric population and the etiology and pathogenesis of MCM in these cases remains to be determined. [orpha.net]

Etiology in many patients involves an activating mutation (D816V) in the gene coding for the stem cell factor receptor c-kit, which is present on mast cells. [msdmanuals.com]

Therefore, the etiological diagnosis remains presumptive until skin testing is performed. [anesthesiology.pubs.asahq.org]

§ In contrast, serum total tryptase levels are normal ( · Etiology The cause of mast cell disease is unknown. [hemepathreview.com]

Etiology Mastocytosis probably is a hyperplastic response to an abnormal stimulus. [emedicine.medscape.com]

Epidemiological, clinical and treatment data, including effectiveness and safety, were reviewed. RESULTS: In total, 18 children (11 male, 7 female; age range 3-42 months) with CM were evaluated. [ncbi.nlm.nih.gov]

Summary Epidemiology MCM is the most common form of CM (accounting for up to 90% of cases) but the prevalence in the general population is unknown. Incidence has been estimated at between 1/1000 and 1/125 births. [orpha.net]

Mastocytosis (cutaneous and systemic): Epidemiology, pathogenesis, and clinical manifestations. UpToDate. December 5, 2016; http://www.uptodate.com/contents/mastocytosis-cutaneous-and-systemic-epidemiology-pathogenesis-and-clinical-manifestations. [rarediseases.info.nih.gov]

· Epidemiology Mastocytosis may occur at any age. Cutaneous mast cell disease is most common in children. It may be present at birth, and 80% of afflicted children demonstrate lesions by 6 months of age. [hemepathreview.com]

A mutation of the oncogene C-KIT D816V is found in many (but not all) cases. [ 9 ] Epidemiology [ 10 ] This is a rare and heterogeneous group of disorders, of which urticaria pigmentosa is the most common manifestation. [patient.info]

We aimed to assess the clinical and histopathological characteristics of acquired bilateral TMEP, and the pathophysiological mechanism of acquired bilateral TMEP among these patients. [ncbi.nlm.nih.gov]

In: Anesthesia and Uncommon Diseases: Pathophysiologic and Clinical Correlation. Katz J, Kadis LB (Eds.). Philadelphia: WB Saunders, 1981,573–4. Google Scholar 5. Rosenbaum KJ, Strobel GE. Anesthetic considerations in mastocytosis. [link.springer.com]

Pathophysiology Mastocytosis is now classified with the myeloproliferative neoplasms. [5] Increased local concentrations of soluble mast cell growth factor in lesions of cutaneous mastocytosis are believed to stimulate mast cell proliferation, melanocyte [emedicine.medscape.com]

Pathophysiology of mastocytosis. IL-1 = interleukin-1; IL-6 = interleukin-6; LTC4 = leukotriene C4; PGD2 = prostaglandin D2; TNF-α = tumor necrosis factor-α. Fig. 1. Pathophysiology of mastocytosis. [anesthesiology.pubs.asahq.org]

Pathophysiology Mast cells originate from bone marrow progenitor cells and are distributed throughout the connective tissues. They are concentrated in the skin around the peripheral nerves and adjacent to blood and lymphatic vessels. [aafp.org]

It works by preventing mast cells from releasing the substances that can cause these skin and gut problems". [inspire.com]

Your skin Holds body fluids in, preventing dehydration Keeps harmful microbes out, preventing infections Helps you feel things like heat, cold, and pain Keeps your body temperature even Makes vitamin D when the sun shines on it Anything that irritates [icdlist.com]

[…] they have a history of diagnosed pediatric MPCM Diagnosed before age 15 Five or more individual lesions Within the past 25 years Exclusion Criteria Inability to speak or read English Diffuse cutaneous mast cell disease Subjects with disabilities that prevent [mayo.edu]

[…] sudden cardiac death - guidance (IPG603) Source: National Institute for Health and Care Excellence - NICE - 20 December 2017 Evidence-based recommendations on subcutaneous implantable cardioverter defibrillator insertion for preventing sudden cardiac [evidence.nhs.uk]

PREVENTION The following “triggers” may influence a mast cell response: drug abuse, excessive alcoho consumption, preservatives, stress, sunlight, environmental toxins, bacteria/fungi/mold, artificial colors or flavorings, heat/cold, etc. [knowcancer.com]