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458 Possible Causes for All Reported Mutations Have Occurred De Novo, Mast Cell Infiltration

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  • Mastocytosis

    Immunohistochemistry revealed strong tryptase-positivity of mast cells in both cutaneous and bone marrow infiltrates.[dx.doi.org] Image 1 (Case 55) A, Dense mast cell infiltrate in colonic lamina propria (H&E). B, Immunohistochemical stain for CD117 highlights mast cell infiltrate.[academic.oup.com] At the time of initial diagnosis the bone marrow showed only a mild diffuse increase in mast cells but compact infiltrates were missing.[dx.doi.org]

    Missing: All Reported Mutations Have Occurred De Novo
  • Urticaria Pigmentosa

    Urticaria pigmentosa was found associated with mast cell infiltration of the bone marrow in 18 patients (60%).[ncbi.nlm.nih.gov] Although cutaneous mast cell density was slightly higher in patients with SM compared to those with limited CM (P 0.047), neither mast cell cytomorphology nor infiltration[ncbi.nlm.nih.gov] Abstract Long-term treatment with interferon alpha (IFN-alpha) has recently been shown to reduce the bone marrow infiltrate and cutaneous lesions in systemic mast cell disease[ncbi.nlm.nih.gov]

    Missing: All Reported Mutations Have Occurred De Novo
  • Diffuse Cutaneous Mastocytosis

    Diffuse, cutaneous mastocytosis is a rare variant of cutaneous mast cell infiltration that can arise in neonates or infants as a generalized bullous eruption.[ncbi.nlm.nih.gov] Diffuse cutaneous mastocytosis (DCM) is an extremely rare disease characterized by massive proliferation of mast cells infiltrating the entire skin.[ncbi.nlm.nih.gov] The bone marrow aspirate showed a dense mast cell infiltrate confirming systemic involvement.[ncbi.nlm.nih.gov]

    Missing: All Reported Mutations Have Occurred De Novo
  • Benign Mastocytoma

    cell infiltrates, a normal peripheral blood profile, a serum tryptase level of less than 20 ng/mL, and no mast cell infiltrates in bone marrow. 6 Systemic mastocytosis can[consultant360.com] Results of the punch biopsy reveal dense mast cell infiltration in the perivascular and interstitial areas. Can you spot the rash?[healio.com] Mastocytosis: A condition characterized by infiltration of mast cells into the tissues of the body.[medicinenet.com]

    Missing: All Reported Mutations Have Occurred De Novo
  • Telangiectasia Macularis Eruptiva Perstans

    At that time, the patient underwent total skin electron beam (TSEB) radiation, based on the theory that by decreasing cutaneous mast cell infiltration, his pruritus would[ncbi.nlm.nih.gov] Abstract Systemic mastocytosis is a rare disease involving the infiltration and accumulation of active mast cells within any organ system.[pagepress.org] In patients with elevated tryptase levels or those with frequent systemic manifestations, a bone marrow biopsy is essential in order to demonstrate mast cell infiltration.[pagepress.org]

    Missing: All Reported Mutations Have Occurred De Novo
  • Cutaneous Mastocytosis - Short Stature - Conductive Hearing Loss - Microtia

    With regards to the histological features of cutaneous mastocytosis, prominent mast cell infiltration is the most striking finding.[symptoma.com] reported mutations have occurred de novo MOLECULAR BASIS: Caused by mutation in the nonselective sodium leak channel gene (NALCN, 611549.0004) Description The large number[findzebra.com] Cutaneous mastocytosis MedGen UID: 210143 • Concept ID: C1136033 • Finding A form of mastocytosis characterized by mast cell infiltration of the skin.[ncbi.nlm.nih.gov]

  • Systemic Mastocytosis

    METHODS AND RESULTS: Seven patients with GI biopsies showing an atypical mast cell infiltrate were identified, including three consultation cases in which mast cells were[ncbi.nlm.nih.gov] Figure 1: Young mast cell infiltration in bone marrow (H & E X100) Figure 2: Young mast cell infiltration in bone marrow (H & E X200) Figure 3: Mast cells in bone marrow ([sciforschenonline.org] The symptoms of the disease are due both to the mast cells infiltrating the organs and to the action of its degranulation products.[ncbi.nlm.nih.gov]

    Missing: All Reported Mutations Have Occurred De Novo
  • Cutaneous Mastocytosis

    The yellow hue has previously been explained by the usual deep and solid dermal mast cell infiltrate.[ncbi.nlm.nih.gov] Skin biopsy revealed perivascular mast-cell infiltration. Her urinary histamine excretion was markedly elevated.[ncbi.nlm.nih.gov] Mastocytosis includes a spectrum of diseases characterized by abnormal mast cell infiltration in various organs, which can lead to mast cell mediator release and immediate[ncbi.nlm.nih.gov]

    Missing: All Reported Mutations Have Occurred De Novo
  • Indolent Systemic Mastocytosis

    Immunohistochemistry revealed strong tryptase-positivity of mast cells in both cutaneous and bone marrow infiltrates.[ncbi.nlm.nih.gov] Conclusion In conclusion, Midostaurin is effective in symptom-reduction and even mast cell infiltration in patients with indolent mastocytosis.[learningcenter.ehaweb.org] Fig. 1 H&E showing paratrabecular aggregate of “spindled” mast cells in a fibrotic background Fig. 2 CD117 stain showing positivity in the mast cell infiltrate Fig. 3 CD25[mplnet.com]

    Missing: All Reported Mutations Have Occurred De Novo
  • Aggressive Systemic Mastocytosis

    […] becomes infiltrated with mast cells.[symptoma.com] mast-cell aggregates.[ncbi.nlm.nih.gov] Systemic mastocytosis is characterized by mast cell infiltration of bone marrow and tissues in the absence of identified circulating bone marrow-derived progenitors.[ncbi.nlm.nih.gov]

    Missing: All Reported Mutations Have Occurred De Novo

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