Mastocytosis, Cutaneous (MASTC)

External Ids:

Disease Ontology 12 DOID:12309 DOID:3663 DOID:3665 OMIM 58 154800 MeSH 45 D008415 D014582 D034701 NCIt 51 C3218 C3433 C7137 SNOMED-CT 69 78745000 ICD10 34 D47.01 MESH via Orphanet 46 D014582

ICD10 via Orphanet 35 Q82.2 UMLS via Orphanet 75 C0024901 C0042111 Orphanet 60 ORPHA79456 ORPHA79457 MedGen 43 C0024899 C0042111 SNOMED-CT via HPO 70 112629002 126485001 128177006 129154003 134291007 16294009 166702002 16932000 17417006 195967001 200948000 20255002 20741006 21061000119107 21522001 230145002 238810007 2424003 247441003 247472004 248274002 25064002 25694009 263681008 263731006 267036007 267038008 267060006 269469005 269475001 271811009 272039006 276322001 278040002 279333002 35489007 39579001 396349005 396350005 397012002 397829000 399992009 400005007 402410006 402601007 410429000 414794006 418290006 418363000 423666004 424413001 424492005 424952003 425333006 443871003 444827008 45007003 48694002 49347007 49727002 5468008 56317004 62315008 64305001 64859006 66931009 69943009 70076002 703827008 70819003 74474003 7632005 78667006 79654002 80515008 8214000 84229001 86735004 87163000 93143009 95319004 991000119106 more EFO 17 EFO_1000886 EFO_1001229 UMLS 74 C0024901 C0042111 C1136033

OMIM : ⁵⁸ Mastocytosis, or mast cell disease, is a heterogeneous group of clinical disorders characterized by the abnormal accumulation of mast cells in various tissues, especially in the skin and hematopoietic organs. Mastocytosis usually appears in infancy or early adulthood. In most pediatric cases, the disease is limited to the skin, but it can be associated with systemic symptoms due to the release of mediators from mast cells, even when there is no systemic infiltration. It usually has a good prognosis, with substantial improvement or spontaneous resolution before puberty. In rare cases, the disease may remain active through adolescence as a systemic adult mastocytosis. Cutaneous mastocytosis is characterized by macules, papules, nodules, or diffuse infiltration of the skin, often associated with localized hyperpigmentation. Gentle rubbing of the lesions induces histamine release from mechanically activated mast cells, causing local wheals, erythema, and often pruritus, a phenomenon termed the 'Darier sign.' In contrast to childhood-onset mastocytosis, adult-onset mastocytosis often persists for the lifetime of the patient and is also more likely to be a severe and systemic disease involving numerous organs. In some cases, it is associated with a clonal hematologic non-mast-cell lineage disease, such as a myelodysplastic or myeloproliferative disorder. Adult-onset mastocytosis can also lead to the rare mast cell leukemia, which carries a high risk of mortality (summary by Bodemer et al., 2010 and Kambe et al., 2010). (154800)

MalaCards based summary : Mastocytosis, Cutaneous, also known as urticaria pigmentosa, is related to cutaneous solitary mastocytoma and aggressive systemic mastocytosis. An important gene associated with Mastocytosis, Cutaneous is KIT (KIT Proto-Oncogene, Receptor Tyrosine Kinase), and among its related pathways/superpathways are Akt Signaling and PAK Pathway. The drugs Cladribine and Cromolyn Sodium have been mentioned in the context of this disorder. Affiliated tissues include skin, bone and liver, and related phenotypes are abnormal blistering of the skin and pruritus

NIH Rare Diseases : ⁵⁴ Cutaneous mastocytosis is a form of mastocytosis that primarily affects the skin. There are three main forms of the condition: maculopapular cutaneous mastocytosis (also called urticaria pigmentosa), solitary cutaneous mastocytoma, and diffuse cutaneous mastocytosis. There is also an exteremely rare form called telangiectasia macularis eruptiva perstans. The signs, symptoms and severity of the condition vary by subtype. Cutaneous mastocytosis is usually caused by changes (mutations) in the KIT gene. Most cases are caused by somatic mutations which are not inherited or passed on to the next generation. However, it can rarely affect more than one family member and be inherited in an autosomal dominant manner. Treatment is usually symptomatic and may include oral antihistamines, topical steroids, and/or photochemotherapy.

UniProtKB/Swiss-Prot : ⁷⁶ Mastocytosis, cutaneous: A form of mastocytosis, a heterogeneous group of disorders associated with abnormal proliferation and accumulation of mast cells in various tissues, especially in the skin and hematopoietic organs. MASTC is an autosomal dominant form characterized by macules, papules, nodules, or diffuse infiltration of the skin, often associated with localized hyperpigmentation. Gentle rubbing of the lesions induces histamine release from mechanically activated mast cells, causing local wheals, erythema, and often pruritus, a phenomenon termed Darier sign. Mastocytosis, systemic: A severe form of mastocytosis characterized by abnormal proliferation and accumulation of mast cells in several organs, resulting in a systemic disease that may affect bone, gastrointestinal tract, lymphatics, spleen, and liver. In some cases, it is associated with a clonal hematologic non-mast-cell lineage disease, such as a myelodysplastic or myeloproliferative disorder. It can also lead to mast cell leukemia, which carries a high risk of mortality.

Wikipedia : ⁷⁷ Urticaria pigmentosa (also known as generalized eruption of cutaneous mastocytosis (childhood type) ) is... more...

Clinical features from OMIM:

154800

Search NIH Clinical Center for Mastocytosis, Cutaneous

Search GEO for disease gene expression data for Mastocytosis, Cutaneous.