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Cutaneous Mastocytosis


Presentation

  • We present two pediatric cases of xanthelasmoid mastocytosis presenting as isolated mastocytomas, which are notable histopathologically for their hypervascularity.[ncbi.nlm.nih.gov]
Malnutrition
  • The presence of anemia and protein energetic malnutrition in children with mastocytosis involves carrying out balance extension for the exclusion of a systemic form of the disease.[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]
Crying
Cyanosis
  • Wheezing, shortness of breath and rarely cyanosis may be present. Anaphylaxis can also occur [iii].[mastattack.org]
Excoriation
  • Cutaneous examination revealed multiple tense bullae at different stages of their evolution associated with the local erythema and excoriation chiefly distributed over the trunk and neck.[ijpd.in]
Papular Rash
  • There was a generalised hyperpigmented maculo-papular rash. Darier sign was positive. The skin biopsy showed plenty of spindle shaped mast cells with eosinophilic cytoplasm infiltrating the dermis and the appendiceal structures.[casesjournal.biomedcentral.com]
Facial Pain
  • Although the occurrence of CM in the facial skin is rare, it may be a cause of chronic facial pain, and pain characteristics may mistakenly be interpreted as trigeminal nerve pathology.[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]

Workup

  • 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]
  • 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]

Treatment

  • Treatment was instituted with pimecrolimus cream twice a day and oral antihistamine.[ncbi.nlm.nih.gov]

Prognosis

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

Etiology

  • 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]

Epidemiology

  • 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; . Habashy J and Robles DT. Mastocytosis. Medscape Reference. May 15, 2017; . Fett NM, Teng J, and Longley BJ.[rarediseases.info.nih.gov]
  • Disease Classification and Epidemiology A classification scheme for mastocytosis is outlined in Table 1. 1 The increase in mastocytes in the skin may be (1) generalized, as in diffuse and erythrodermic mastocytosis; (2) more discrete collections of cells[aafp.org]
  • . · 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]
Sex distribution
Age distribution

Pathophysiology

  • 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]
  • 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]
  • 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]

Prevention

  • 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]

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