II. Definitions
- Mastocytosis
- Abnormal proliferation and accumulation of Mast Cells within various organ systems
- May be limited to skin Mast Cell accumulation (Cutaneous Mastocytosis)
- May be diffusely increased in Bone Marrow, Spleen, and liver (Systemic Mastocytosis)
III. Pathophysiology
IV. Types
- Cutaneous Mastocytosis
- Isolated skin Mast Cell accumulation
- Most cases are in children (80% of cases are age <1 year old)
- Subtypes
- Maculopapular Cutaneous Mastocytosis or Urticaria Pigmentosa (75%)
- Solitary Mastocytoma (20%)
- Mast Cell tumor of the skin, subcutaneous tissue or Muscle Tissue
- Diffuse Cutaneous Mastocytosis (5%)
- Systemic Mastocytosis
- Diffusely increased Mast Cells in Bone Marrow, skeletal system, Spleen, and liver
- Most cases are in adults (95% of adult cases)
V. Causes: Triggers for Mast Cell Degranulation
- Medications (e.g. Opioids, NSAIDs, iodinated contrast, Vancomycin, general Anesthesia)
- Physical stimuli (e.g. Exercise, extremes of Temperature, emotional stress)
- Surgical procedures
- Bites and Stings (e.g. Insect Bites, Animal Bites)
VI. Findings: Cutaneous Mastocytosis
VII. Findings: Systemic Mastocytosis
- Flushing
- Pruritus
- Nausea
- Vomiting
- Abdominal Pain
- Diarrhea
- Headache
-
Anaphylaxis (uncommon, severe cases)
- Up to 50% of adults and 10% of children with Mastocytosis are at risk of Anaphylaxis
- Anaphylaxis risk factors
- Male gender
- Serum Immunoglobulin E levels >15 kU/L
- Atopy history
- Serum Tryptase levels >20 ng/ml
- References
VIII. Labs
-
Complete Blood Count
- Anemia -mild to moderate (50% of cases)
- Eosinophilia (25% of cases)
- Monocytosis (50% of advanced cases)
- Mastocytosis specific lab markers
- Serum Tryptase >20 ng/ml (systemic mastocytocytosis)
- Urine 24 hour collection for Histamine or Histamine Metabolites
- Skin Biopsy of Maculopapular Cutaneous Mastocytosis (Urticaria Pigmentosa)
- Mast Cell aggregation
-
Bone Marrow Biopsy
- Spindle-shaped Mast Cells
- Distribution in perivascular, peritrabecular and intertrabecular areas
- Other advanced testing
- KIT Gene Mutation Analysis
IX. Management
- Symptomatic Management
- Antihistamines for Pruritus
- Aspirin for Flushing (adults)
- Urticaria Pigmentosa
- PUVA
- Corticosteroids (severe cases)
- Gastrointestinal Symptoms
- Mast Cell Stabilizers (e.g. Disodium Chromoglycate)
- Proton Pump Inhibitors or H2 Blockers (e.g. Pepcid)
X. References
- Castells and Akin in Saini (2017) Mastocytosis Evaluation and Diagnosis, UpToDate, accessed 10/5/2020
- Mahmoudi (2014) Immunology Made Ridiculously Simple, MedMaster, Miami, FL, p. 30-1
- Green (2022) Am Fam Physician 105(6): 671-2 [PubMed]
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Related Studies
| Definition (NCI_NCI-GLOSS) | A growth or lump of mast cells (a type of white blood cell). Mast cell tumors can involve the skin, subcutaneous tissue, and muscle tissue. |
| Definition (NCI) | A localized tumor composed of sheets of mast cells without atypia. It includes the cutaneous mastocytoma which involves the dermis and subcutaneous tissue, and the extracutaneous mastocytoma. Most cases of extracutaneous mastocytoma have been reported in the lung. |
| Concepts | Neoplastic Process (T191) |
| ICD10 | M9740/1 , D47.0 |
| SnomedCT | 134333006, 189506005, 190020000, 404171008, 89796001 |
| English | Mastocytoma NOS, [M]Mastocytoma NOS, Mastocytoma, mastocytoma (diagnosis), mastocytoma, [M]Mastocytoma NOS (morphologic abnormality), Mastocytoma (disorder), Mastocytoma (morphologic abnormality), Mastocytoma, NOS |
| Italian | Mastocitoma |
| Japanese | 肥満細胞腫, ﾋﾏﾝｻｲﾎﾞｳｼｭ |
| Czech | Mastocytom |
| Hungarian | Mastocytoma |
| Spanish | [M]mastocitoma, SAI (anomalía morfológica), [M]mastocitoma, SAI, mastocitoma (anomalía morfológica), mastocitoma (trastorno), mastocitoma, Mastocitoma |
| Portuguese | Mastocitoma |
| Dutch | mastocytoom |
| French | Mastocytome |
| German | Mastozytom |
Ontology: Mastocytosis (C0024899)
| Definition (NCI) | A clonal myeloproliferative neoplasm characterized by the proliferation and accumulation of neoplastic mast cells in one or multiple organs or organ systems. It is a heterogeneous group of neoplasms, ranging from cutaneous proliferations which may regress spontaneously, to aggressive neoplasms associated with organ failure and short survival. |
| Definition (CSP) | rare disease characterized by an abnormal increase in mast cells in the bone marrow, liver, spleen, lymph nodes, gastrointestinal tract, and skin. |
| Definition (MSH) | A heterogenous group of disorders characterized by the abnormal increase of MAST CELLS in only the skin (MASTOCYTOSIS, CUTANEOUS), in extracutaneous tissues involving multiple organs (MASTOCYTOSIS, SYSTEMIC), or in solid tumors (MASTOCYTOMA). |
| Concepts | Disease or Syndrome (T047) |
| MSH | D008415 |
| ICD10 | Q82.2 |
| SnomedCT | 78745000, 125541005, 397007003 |
| English | Disease, Mast-Cell, Diseases, Mast-Cell, Mast-Cell Disease, Mast-Cell Diseases, Mastocytoses, mast cell hyperplasia, MAST CELL DISEASE, MASTOCYTOSIS, MAST CELL DIS, Mastocytosis, Mastocytosis [Disease/Finding], cell disorders mast, cell diseases mast, mastocytoses, mast cell disorder, mast cell disease, Mast Cell Disease, mastocytosis (diagnosis), anomalies of skin mastocytosis, mastocytosis, Mast cell disease, Mast cell disorder (disorder), Mast cell disorder, Mast cell hyperplasia (morphologic abnormality), Mast cell hyperplasia, disease; mast cell, mast cell; disease |
| Swedish | Mastocytos |
| Japanese | ﾋﾏﾝｻｲﾎﾞｳｼｮｳ, 肥胖細胞症, 肥満細胞症, マストサイトーシス, 肥満細胞増多症, 肥満細胞病, 良性肥満細胞腫, 肥満細胞腫-良性 |
| Czech | mastocytóza, Mastocytóza |
| Finnish | Mastosytoosi |
| Russian | TUCHNYKH KLETOK BOLEZN', MASTOTSITOZ, МАСТОЦИТОЗ, ТУЧНЫХ КЛЕТОК БОЛЕЗНЬ |
| German | Mastozytose (angeboren), Mastozytose, Mastzellerkrankung |
| Korean | 비반세포증 |
| Polish | Mastocytoza |
| Hungarian | mastocytosis |
| Norwegian | Mastocytose |
| Dutch | mastocytose, mestcel; ziekte, ziekte; mestcel, Mastocytose, Mestcelziekte |
| Spanish | Enfermedad Mastocitaria, hiperplasia de mastocitos (anomalía morfológica), hiperplasia de mastocitos, mastocitosis, trastorno de mastocitos (trastorno), trastorno de mastocitos, Mastocitosis, Enfermedad de Mastocitos |
| Portuguese | Doença Mastocitária, Mastocitose, Doença de Mastócitos |
| French | Mastocytose bénigne, Mastocytose |
| Italian | Mastocitosi |
Ontology: Mastocytosis, Diffuse Cutaneous (C0024901)
| Definition (NCI) | A variant of cutaneous mastocytosis which is seen almost exclusively in children. (WHO, 2001) -- 2003 |
| Definition (MSH) | A form of cutaneous mastocytosis that is characterized by a diffuse erythrodermic rash rather than the maculopapular infiltrates seen in URTICARIA PIGMENTOSA. |
| Concepts | Neoplastic Process (T191) |
| MSH | D034701 |
| SnomedCT | 703826004 |
| English | Cutaneous Mastocytoses, Diffuse, Cutaneous Mastocytosis, Diffuse, Diffuse cutaneous mastocytosis, Diffuse cutaneous mastocytosis (morphologic abnormality), Diffuse Cutaneous Mastocytosis, Mastocytosis, Diffuse Cutaneous |
| Japanese | びまん性皮膚肥満細胞症, ﾋﾞﾏﾝｾｲﾋﾌﾋﾏﾝｻｲﾎﾞｳｼｮｳ |
| Czech | mastocytóza difuzní kožní, Difuzní kožní mastocytóza |
| Portuguese | Mastocitose Cutânea Difusa, Mastocitose cutânea difusa |
| Spanish | Mastocitosis Cutánea Difusa, Mastocitosis cutánea difusa |
| French | Mastocytose cutanée diffuse |
| German | Mastozytose, diffuse, kutane, Diffuse Mastozytose der Haut |
| Hungarian | Diffúz cutan mastocytosis |
| Italian | Mastocitosi cutanea diffusa |
| Norwegian | Diffus kutan mastocytose |
| Dutch | diffuus cutane mastocytose, Mastocytose, diffuse cutane |
Ontology: Urticaria Pigmentosa (C0042111)
| Definition (NCI) | The most frequent form of cutaneous mastocytosis. In children, the lesions tend to be papular, and are characterized by aggregates of elongated or spindle-shaped mast cells which fill the papillary dermis and extend into the reticular dermis. In adults, the lesions tend to have fewer mast cells compared to those in children. The lesions are located most commonly on the trunk, but they can be seen on the extremities, head and neck. (WHO, 2001) |
| Definition (MSH) | The most common form of cutaneous mastocytosis (MASTOCYTOSIS, CUTANEOUS) that occurs primarily in children. It is characterized by the multiple small reddish-brown pigmented pruritic macules and papules. |
| Definition (CSP) | most common form of mastocytosis, characterized by multiple persistant small reddish brown hyperpigmented pruritic macules and papules. |
| Concepts | Disease or Syndrome (T047) , Congenital Abnormality (T019) |
| MSH | D014582 |
| ICD10 | Q82.2 |
| SnomedCT | 205566001, 703828003, 78745000 |
| Swedish | Urticaria pigmentosa |
| English | URTICARIA PIGMENTOSA, urticaria pigmentosa (diagnosis), urticaria pigmentosa, Urticaria Pigmentosa [Disease/Finding], mastocytosis, pigmentosa urticaria, Cutaneous Mastocytoses, Maculopapular, Cutaneous Mastocytosis, Maculopapular, Maculopapular Cutaneous Mastocytoses, Maculopapular Cutaneous Mastocytosis, Urticaria pigmentosa (morphologic abnormality), Urticaria pigmentosa, Localised cutaneous mastocytosis, Localized cutaneous mastocytosis, Urticaria pigmentosa (disorder), pigmentation; congenital, urticaria pigmentosa, pigmentosa; urticaria, urticaria; pigmentosa, Localized cutaneous mastocytosis, NOS, Urticaria pigmentosa, NOS, Urticaria pigmentosa [Ambiguous], UP/MPCM, Urticaria Pigmentosa/Maculopapular Cutaneous Mastocytosis, Urticaria Pigmentosa |
| Japanese | ｼｷｿｾｲｼﾞﾝﾏｼﾝ, 蕁麻疹-色素性, 色素じんましん, 色素性じんま疹, 色素性蕁麻疹, じんましん-色素性, 色素じんま疹, 色素性じんましん, 色素蕁麻疹 |
| Czech | urticaria pigmentosa, Urticaria pigmentosa |
| Finnish | Keltatäpläurtikaria |
| Russian | KRAPIVNITSA PIGMENTNAIA, MASTOTSITOZ KOZHNYI MAKULOPAPULEZNYI, КРАПИВНИЦА ПИГМЕНТНАЯ, МАСТОЦИТОЗ КОЖНЫЙ МАКУЛОПАПУЛЕЗНЫЙ |
| Italian | Mastocitosi cutanea maculopapulare, Orticaria pigmentosa |
| Polish | Pokrzywka barwnikowa |
| Hungarian | Urticaria pigmentosa |
| Norwegian | Urticaria pigmentosa |
| Dutch | pigmentatie; congenitaal, urticaria pigmentosa, pigmentosa; urticaria, urticaria; pigmentosa, urticaria pigmentosa, Urticaria pigmentosa, Cutane maculopapulaire mastocytose, Mastocytose, cutane, maculopapulaire |
| Spanish | mastocitosis cutánea localizada, urticaria pigmentosa (trastorno), urticaria pigmentosa, Urticaria pigmentosa, Mastocitosis Cutánea Maculopapular, Urticaria Pigmentosa |
| Portuguese | Urticária pigmentar, Mastocitose Cutânea Maculopapular, Urticaria Pigmentosa |
| German | Urtikaria pigmentosa, Urticaria pigmentosa |
| French | Mastocytose cutanée éruptive, Urticaire pigmentaire |
Ontology: Mastocytosis, Systemic (C0221013)
| Definition (NCI) | A variant of mastocytosis characterized by multifocal, dense infiltrates of mast cells (15 or more mast cells in aggregates) detected in the bone marrow and/or other extracutaneous sites. (WHO, 2001) -- 2003 |
| Definition (NCI_NCI-GLOSS) | A rare disease in which too many mast cells (a type of immune system cell) are found in the skin, bones, joints, lymph nodes, liver, spleen, and gastrointestinal tract. Mast cells give off chemicals such as histamine that can cause flushing (a hot, red face), itching, abdominal cramps, muscle pain, nausea, vomiting, diarrhea, low blood pressure, and shock. |
| Definition (MSH) | A group of disorders caused by the abnormal proliferation of MAST CELLS in a variety of extracutaneous tissues including bone marrow, liver, spleen, lymph nodes, and gastrointestinal tract. Systemic mastocytosis is commonly seen in adults. These diseases are categorized on the basis of clinical features, pathologic findings, and prognosis. |
| Concepts | Disease or Syndrome (T047) |
| MSH | D034721 |
| SnomedCT | 123310005, 50150000, 397016004 |
| Swedish | Mastocytos, systemisk |
| Japanese | ｾﾞﾝｼﾝｾｲﾋﾏﾝｻｲﾎﾞｳｼｮｳ, 肥満細胞症-全身性, 全身性肥満細胞症 |
| Finnish | Systeeminen mastosytoosi |
| Russian | MASTOTSITOZ SISTEMNYI, TUCHNYKH KLETOK BOLEZN' SISTEMNAIA, МАСТОЦИТОЗ СИСТЕМНЫЙ, ТУЧНЫХ КЛЕТОК БОЛЕЗНЬ СИСТЕМНАЯ |
| Czech | Systémová mastocytóza, systémová mastocytóza, mastocytóza systémová |
| English | Mastocytosis, Systemic [Disease/Finding], mastocytosis systemic, systemic mast cell disease, systemic mastocytosis, systemic urticaria pigmentosa, systemic mast-cell disease, Systemic mastocytosis (disorder), Mast-Cell Disease, Systemic, Mast-Cell Diseases, Systemic, Mastocytoses, Systemic, Mastocytosis, Systemic, Systemic Mast Cell Disease, Systemic Mast-Cell Disease, Systemic Mast-Cell Diseases, Systemic Mastocytoses, Systemic mastocytosis, NOS, Systemic tissue mast cell disease, Systemic mastocytosis, SMCD - systemic mast cell disease, Systemic mast cell disease (disorder), Systemic mast cell disease, disease (or disorder); systemic tissue, mast cell, systemic; mast cell disease, Systemic mastocytosis -RETIRED-, Systemic Mastocytosis, Systemic Tissue Mast Cell Disease |
| French | Mastocytose systémique, Mastocytose généralisée |
| Polish | Mastocytoza układowa |
| Hungarian | systemás mastocytosis |
| Dutch | systemische mastocytose, aandoening; systemisch weefsel, mestcel, systemisch; mestcelaandoening, Mastocytose, systemische, Systemische mestcelziekte |
| Norwegian | Systemisk mastocytose |
| Spanish | mastocitosis sistémica - RETIRADO - (concepto no activo), mastocitosis sistémica - RETIRADO -, Enfermedad de Mastocitos Sistémica, enfermedad sistémica de los mastocitos (trastorno), enfermedad sistémica de los mastocitos, enfermedad sistémica de mastocitos hísticos, Mastocitosis sistémica, Enfermedad Sistémica de Mastocitos, Mastocitosis Sistémica |
| Portuguese | Doença de Mastócitos Sistêmica, Mastocitose sistémica, Doença Sistêmica de Mastócitos, Mastocitose Sistêmica |
| German | systemische Mastozytose, Mastozytose, systemische, Systemische Mastozytose |
| Italian | Mastocitosi sistemica |
Ontology: Skin Mastocytoma (C0343115)
| Definition (MSH) | A variant of cutaneous mastocytosis which occurs as a single lesion usually in infants. It is found mostly in the wrist and trunk and there is no atypical cytomorphology. |
| Concepts | Neoplastic Process (T191) |
| MSH | D054705 |
| SnomedCT | 404171008, 239147000, 397013007 |
| English | Solitary Mastocytoma of Skin, Mastocytoma, Skin, Mastocytoma, Skin [Disease/Finding], solitary cutaneous mastocytoma (diagnosis), Mast cell nevus (diagnosis), neoplasm of mast cell nevus, Mast cell naevus, Mast cell nevus, Mastocytoma of skin, Cutaneous mastocytoma, Mast cell nevus (disorder), Solitary cutaneous mastocytoma (disorder), Solitary cutaneous mastocytoma, Solitary mastocytoma, Skin Mastocytoma, Cutaneous Solitary Mastocytoma, Skin Solitary Mastocytoma, Solitary Mastocytoma of the Skin |
| Portuguese | Mastocitoma da Pele, Mastocitoma Cutâneo |
| Spanish | Mastocitoma Cutáneo, Mastocitoma de la Piel, mastocitoma cutáneo (trastorno), mastocitoma cutáneo solitario (trastorno), mastocitoma cutáneo solitario, mastocitoma cutáneo |
| Finnish | Ihon mastosytooma |
| French | Mastocytome cutané, Mastocytome de la peau |
| German | Mastozytom der Haut, Haut-Mastozytom |
| Italian | Mastocitoma cutaneo, Mastocitoma cutaneo solitario |
| Russian | МАСТОЦИТОМА КОЖИ, MASTOTSITOMA KOZHI, KOZHI MASTOTSITOMA, КОЖИ МАСТОЦИТОМА |
| Czech | mastocytom kožní |
| Japanese | 肥満細胞腫-皮膚, 皮膚肥満細胞腫 |
| Swedish | Mastocytom, hud |
| Polish | Mastocytoma skóry |
| Norwegian | Kutan mastocytom, Mastocytom i huden |
Ontology: Cutaneous Mastocytosis (C1136033)
| Definition (NCI) | A form of mastocytosis characterized by mast cell infiltration of the skin. (WHO, 2001) -- 2003 |
| Definition (MSH) | Skin lesions due to abnormal infiltration of MAST CELLS. Cutaneous mastocytosis is confined to the skin without the involvement of other tissues or organs, and is mostly found in children. The three major variants are: URTICARIA PIGMENTOSA; diffuse cutaneous mastocytosis; and SOLITARY MASTOCYTOMA OF SKIN. |
| Concepts | Neoplastic Process (T191) |
| MSH | D034701 |
| SnomedCT | 703827008, 397012002 |
| Swedish | Mastocytos, kutan |
| Czech | mastocytóza kožní |
| Finnish | Ihon mastosytoosi |
| Russian | MASTOTSITOZ KOZHNYI, KOZHNYI MASTOTSITOZ, MASTOTSITOZ KOZHNYI DIFFUZNYI, MASTOTSITOZ BULLEZNYI, KOZHI MASTOTSITOZ, КОЖИ МАСТОЦИТОЗ, КОЖНЫЙ МАСТОЦИТОЗ, МАСТОЦИТОЗ БУЛЛЕЗНЫЙ, МАСТОЦИТОЗ КОЖНЫЙ, МАСТОЦИТОЗ КОЖНЫЙ ДИФФУЗНЫЙ |
| Japanese | 水疱性肥満細胞症, 瀰漫性皮膚肥満細胞症, 肥満細胞症-水疱性, び漫性皮膚肥満細胞症, 肥満細胞症-びまん性皮膚, びまん性皮膚肥満細胞症, 皮膚肥満細胞症, 肥満細胞症-皮膚, 水疱性肥満細胞腫 |
| English | Mastocytosis, Cutaneous [Disease/Finding], Cutaneous Mastocytoses, Mastocytoses, Cutaneous, Mastocytoses, Skin, Mastocytosis, Cutaneous, Mastocytosis, Skin, Skin Mastocytoses, Skin Mastocytosis, Cutaneous mastocytosis (morphologic abnormality), Cutaneous mastocytosis (disorder), Cutaneous mastocytosis, Cutaneous Mastocytosis, CM |
| Polish | Mastocytoza skórna |
| Norwegian | Mastocytose i huden, Kutan mastocytose |
| Spanish | Mastocitosis Bullosa, Mastocitosis Bulosa, mastocitosis cutánea (trastorno), mastocitosis cutánea, Mastocitosis de la Piel, Mastocitosis Cutánea |
| French | Mastocytose cutanée |
| German | Haut-Mastozytose, Kutane Mastozytose, Mastozytose der Haut, Mastozytose, kutane |
| Italian | Mastocitosi cutanea |
| Dutch | Cutane mastocytose, Huidmastocytose, Mastocytose, cutane, Mastocytose, huid- |
| Portuguese | Mastocitose da Pele, Mastocitose Cutânea |
