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

• Ascites

  Abdominal peptic ulcer disease diffuse small bowel thickening omental and mesenteric thickening 9 hepatosplenomegaly ascites lymphadenopathy Pulmonary pulmonary nodules (rare) 2,8 differential diagnosis of diffuse bony sclerosis Promoted articles (advertising [radiopaedia.org]

  Hepatic and splenic infiltration may cause portal hypertension with resultant ascites. Clinical evaluation Skin lesion biopsy and sometimes bone marrow biopsy Diagnosis of mastocytosis is suggested by clinical presentation. [msdmanuals.com]

  It actively decreases bone marrow mast cell infiltration, ameliorates ascites, hepatosplenomegaly, and osteoporosis, improves pruritus, flushing, diarrhoea, decreases mast cell mediator release, its infiltration in different organ systems and can effect [e-ijd.org]

  Systemic corticosteroids are used in ascites, malabsorption, and severe skin disease (bullous). Psoralen plus UV-A therapy (PUVA), rarely required in children, is used for persistent UP in adults for cosmetic improvement [ 7 ]. [casesjournal.biomedcentral.com]

  […] include: Marked cytopaenia (low blood counts) Osteolysis or osteoporosis (thin bones, sometimes causing fractures) Malabsorption Weight loss Enlarged overactive spleen (which can destroy circulating blood cells) Enlarged liver with impaired liver function Ascites [dermnetnz.org]

• Collapse

  Characteristic skin lesions, called urticaria pigmentosa, are present in most patients, but clinical presentation can vary from a pruritic rash to unexplained collapse and sudden death. [allergycases.blogspot.com]

  These episodic attacks can be manifested by flushing, urticaria or, in extreme cases, by life-threatening vascular collapse. [aafp.org]

  The most affected age group are [3] The prognosis is good, but there is a risk of sudden mast cell degranulation due to any trigger and subsequent collapse. [4] As the case report by da Costa et al. in 2005 where they describe a case of sudden, unexpected [ijpd.in]

  The cardinal sign of grade III reactions is cardiovascular collapse, which may be associated with bronchospasm, mucocutaneous, and/or gastrointestinal signs. Grade IV reactions present with cardiac arrest. [anesthesiology.pubs.asahq.org]

  Anaphylaxis due to acute mast cell mediator release can be triggered by multiple factors and should be promptly address due to the potential for massive cardiovascular collapse and death. [worldallergy.org]

• Candidiasis

  KOH (potassium hydroxide) preparation was negative for dermatophytosis or candidiasis. Our differential diagnosis included an irritant or allergic contact dermatitis, radiationinduced dermatitis, histiocytosis, and mycosis fungoides. [omicsonline.org]

• Fishing

  Insect bites, jelly fish stings, snake bites. Infection (bacterial, fungal or viral). [patient.info]

• Chills

  Chilled 24 hour urine sample for PGD2 and methylhistamine. In many cases of MCAS the baseline tryptase and histamine levels can be normal, so it is important for a patient to have these labs done two times (both at baseline and when symptomatic). [blog.goo.ne.jp]

• Dyspnea

  Extensive mechanical manipulation and other factors that trigger mast cell degranulation (non-steroidal anti-inflammatory drugs, physical stimuli, emotional stress, insect venom and certain foods) may lead to systemic symptoms such as flushing, headache, dyspnea [orpha.net]

  Blisters [ more ] 0008066 Alopecia Hair loss 0001596 Anxiety Excessive, persistent worry and fear 0000739 Asthma 0002099 Cardiac arrest Heart stops beating 0001695 Cough Coughing 0012735 Depressivity Depression 0000716 Diarrhea Watery stool 0002014 Dyspnea [rarediseases.info.nih.gov]

• Abdominal Pain

  Diagnosis of DCM was made at the age of 6 months when he had developed extensive bullous eruptions, generalised pruritus, flushing and abdominal pain. Treatment was started with oral dimethindine maleate. [ncbi.nlm.nih.gov]

  The excess release of mediators can cause clinical features such as pruritus, flushing, nausea, vomiting, diarrhoea, abdominal pain, vascular instability and anaphylaxis. [patient.info]

  These mediators can cause a variety of unpredictable symptoms in both children and adults, including skin rashes, flushing, abdominal pain, bloating, nausea, vomiting, headache, bone pain and skeletal lesions, and anaphylaxis. [mastowyattwarrior.org]

• Hypertension

  Hepatic and splenic infiltration may cause portal hypertension with resultant ascites. Clinical evaluation Skin lesion biopsy and sometimes bone marrow biopsy Diagnosis of mastocytosis is suggested by clinical presentation. [msdmanuals.com]

  […] generally be grouped into the following categories: Ø Constitutional symptoms: fatigue, weight loss, fever, sweats Ø Skin manifestations: pruritus, urticaria, dermatographism Ø Mediator-related events: abdominal pain, GI distress, flushing, syncope, hypertension [hemepathreview.com]

  Osteolysis or osteoporosis (thin bones, sometimes causing fractures) Malabsorption Weight loss Enlarged overactive spleen (which can destroy circulating blood cells) Enlarged liver with impaired liver function Ascites (fluid in the abdominal cavity) Portal hypertension [dermnetnz.org]

  Aggressive disease [ 2 ] Splenectomy may be helpful for patients with significant hypersplenism or portal hypertension (it may reduce the mast cell burden and improve cytopenias). [patient.info]

  In aggressive systemic mastocytosis, a decrease in blood cells (cytopenia), break-down of bones (osteolysis), swelling of the lymph nodes (lymphadenopathy), swelling of the liver (hepatomegaly), impaired liver function, ascites or portal hypertension, [rarediseases.org]

• Papule

  We recently encountered a 2-year-old boy with slightly infiltrative brown papules on the face, trunk, and extremities. Stroking of one of the papules produced an urticarial wheal (positive Darier's sign). [ncbi.nlm.nih.gov]

• Erythema

  Physical examination showed white transient linear oedematous lesions on widespread erythema caused by scratching (figure 1), leading to an initial diagnosis of physical urticaria. [adc.bmj.com]

  This article presents a case of telangiectasia macularis eruptiva perstans, a rare type of cutaneous mastocytosis, as the underlying cause of chronic facial pain, erythema, and swelling. [ncbi.nlm.nih.gov]

  NIH: National Institute of Arthritis and Musculoskeletal and Skin Diseases Acrodermatitis (Medical Encyclopedia) Cryotherapy (Medical Encyclopedia) Cutaneous skin tags (Medical Encyclopedia) Dry skin -- self-care (Medical Encyclopedia) Erythema multiforme [icdlist.com]

  […] biopsy shows an infiltrate of mast cells with a multi-focal or diffuse pattern Features of urticaria pigmentosa: (1) small, yellowish-tan to reddish-brown macules or slightly raised papules (2) Darier's sign is present (mild trauma causes urtication and erythema [meducator3.net]

• Skin Disease

  We also present the detailed clinical and etiopathogenetic discussion on previously diagnosed patients as well as suggestions for the link of the mutation with skin disease. [ncbi.nlm.nih.gov]

  A wealth of new features makes it easier, than any other resource, to identify, treat, and manage the full range of skin diseases. Presents outstanding photographs for virtually every common skin disorder. [books.google.de]

  Allergies, irritants, your genetic makeup, and certain diseases and immune system problems can cause rashes, hives, and other skin conditions. Many skin problems, such as acne, also affect your appearance. [icdlist.com]

• Dermatitis

  He had been treated as atopic dermatitis at other hospitals for about one year, however, he was eventually diagnosed with diffuse cutaneous mastocytosis through skin biopsy. [ncbi.nlm.nih.gov]

  Menu Close Presented by Cutis Past Issues Career For Authors Register or Login Full Menu Full Menu CME Diseases & Conditions Acne Actinic Keratosis Aesthetic Dermatology Atopic Dermatitis Autoimmune Diseases Contact Dermatitis Hair & Nails Melanoma Nonmelanoma [mdedge.com]

  Our differential diagnosis included an irritant or allergic contact dermatitis, radiationinduced dermatitis, histiocytosis, and mycosis fungoides. [omicsonline.org]

  Lichen planus (Medical Encyclopedia) Milia (Medical Encyclopedia) Sebaceous cyst (Medical Encyclopedia) Seborrheic keratosis (Medical Encyclopedia) Skin lesion removal (Medical Encyclopedia) Skin lesion removal-aftercare (Medical Encyclopedia) Stasis dermatitis [icdlist.com]

  Wick, M.D Mastocytoma Leder Giemsa Toluidine blue Mastocytosis Breast skin Urticaria pigmentosa, breast skin Leder stain, breast Case of the Week #344 Toluidine blue Differential diagnosis Chronic dermatitis, nodular prurigo, and venous stasis : typically [pathologyoutlines.com]

• Macula

  The authors report the case of a male infant who developed maculae and maculopapulae on his legs and abdomen when aged 3.5 months, which spread to all body surfaces within weeks. [ncbi.nlm.nih.gov]

  In adults the lesion s are disseminated and tend to be red or brown and macula r or maculopapular. 2. Diffuse cutaneous mastocytosis: Occurs almost exclusively in childhood. The skin is diffuse ly thickened and may have an orange peel appearance. [seer.cancer.gov]

• Bone Pain

  Interestingly, radiation therapy has been utilized in the treatment of severe intractable bone pain in patients with advanced systemic mast cell disease [ 8 ]. [omicsonline.org]

  These mediators can cause a variety of unpredictable symptoms in both children and adults, including skin rashes, flushing, abdominal pain, bloating, nausea, vomiting, headache, bone pain and skeletal lesions, and anaphylaxis. [mastowyattwarrior.org]

  Clinical features include: cutaneous manifestations flushing hypotension and syncope abdominal pain nausea, vomiting and diarrhea malabsorption bone pain and pathological fractures associated hematological disorders 7 Mast cells are bone marrow-derived [radiopaedia.org]

  […] marrow involvement All patients Any patient that becomes unwell, eg with bone pain, weight loss, other increasing systemic symptoms, lymphadenopathy, hepatosplenomegaly, or is found to have an abnormal blood film, needs to be referred to haematology [pcds.org.uk]

  Haematological and bones: Anaemia or other cytopenias (if bone marrow involvement). Hypersplenism. Lymphadenopathy. Fractures (if bone marrow involved). [patient.info]

• Fear

  I have fears of her suffering with an itchy tattoo for the rest of her life, or worse..? As I mentioned, the only symptom of her condition we've ever noticed is the spots. [rareconnect.org]

  […] symptoms Abdominal pain Pain in stomach Stomach pain [ more ] 0002027 5%-29% of people have these symptoms Abnormal blistering of the skin Blistering, generalized Blisters [ more ] 0008066 Alopecia Hair loss 0001596 Anxiety Excessive, persistent worry and fear [rarediseases.info.nih.gov]

  Fear of treatment side effects is common after a diagnosis of mastocytosis, but it may be helpful to know that preventing and controlling side effects is a major focus of your health care team. [mastocytosisaustralasia.com]

• Aggressive Behavior

  Although pleomorphic, multilobed nuclear morphology and giant cytoplasmic granules have not been associated with an aggressive behavior or systemic mastocytosis, close clinical observation is warranted in this context. [ncbi.nlm.nih.gov]

• Headache

  With this also comes with headaches. Extreme cold and heat are a huge trigger for me. When the weather changes, I get sick. When this happens I know have to start taking my medicine. [rareundiagnosed.org]

  Extensive mechanical manipulation and other factors that trigger mast cell degranulation (non-steroidal anti-inflammatory drugs, physical stimuli, emotional stress, insect venom and certain foods) may lead to systemic symptoms such as flushing, headache [orpha.net]

  These mediators can cause a variety of unpredictable symptoms in both children and adults, including skin rashes, flushing, abdominal pain, bloating, nausea, vomiting, headache, bone pain and skeletal lesions, and anaphylaxis. [mastowyattwarrior.org]

  These include flushing, headache, palpitations, abdominal pain, diarrhoea, dyspnoea, wheezing, syncope, hypotensive shock and death. Early onset of blisters worsens the prognosis. [patient.info]

  In some cases, flushing, headache, or fatigue can occur. The range of symptoms is related to the extent of the disease, mediators released, and organs involved. [clinicaladvisor.com]

• Dizziness

  COMMON SIGNS & SYMPTOMS Itching/hives/rash/flushing Anaphylaxis Abdominal cramping/discomfort/pain Skin lesions Low blood pressure/fainting/dizziness/fatigue Bone/muscle pain Nausea/vomiting/migraines Other Signs & Symptoms Hematological abnormalities [knowcancer.com]

  […] cells throughout the dermis without evidence of spongiosis, and stained positively with mast cell tryptase (MCT), and Giemsa stains ( Figures 2 and 3 ).The patient denied any systemic symptoms such as flushing, hypotension, tachycardia, anaphylaxis, dizziness [omicsonline.org]

  […] factors (common effects: vasodilatation, erythema, edema, pruritus, urticaria, bronchoconstriction, increased gastric acid, intestinal cramping, further degranulation of mast cells, leukocyte activation) may lead to headache, flushing, nasal stuffiness, dizziness [casesjournal.biomedcentral.com]

  Symptoms and signs induced by mediators may include headache, neuropsychiatric symptoms (cognitive disorganization), flushing, dizziness, tachycardia, hypotension, syncope, anorexia, nausea, vomiting, abdominal pain, and diarrhea. [emedicine.medscape.com]

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]

Treatment was instituted with pimecrolimus cream twice a day and oral antihistamine. [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]