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Cutaneous mastocytosis(MASTC)

MedGen UID:
210143
Concept ID:
C1136033
Finding; Neoplastic Process
Synonyms: MASTOCYTOSIS, DIFFUSE CUTANEOUS; MASTOCYTOSIS, MACULOPAPULAR CUTANEOUS
SNOMED CT: Cutaneous mastocytosis (397012002); Cutaneous mastocytosis (703827008)
Modes of inheritance:
Not genetically inherited
MedGen UID:
988794
Concept ID:
CN307044
Finding
Source: Orphanet
clinical entity without genetic inheritance.
 
Gene (location): KIT (4q12)
 
HPO: HP:0200151
Monarch Initiative: MONDO:0019023
OMIM®: 154800
Orphanet: ORPHA66646

Definition

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). [from OMIM]

Clinical features

From HPO
Cutaneous mastocytosis
MedGen UID:
210143
Concept ID:
C1136033
Finding
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).
Edema
MedGen UID:
4451
Concept ID:
C0013604
Pathologic Function
An abnormal accumulation of fluid beneath the skin, or in one or more cavities of the body.
Erythema
MedGen UID:
11999
Concept ID:
C0041834
Disease or Syndrome
Redness of the skin, caused by hyperemia of the capillaries in the lower layers of the skin.
Urticaria
MedGen UID:
22587
Concept ID:
C0042109
Disease or Syndrome
Raised, well-circumscribed areas of erythema and edema involving the dermis and epidermis. Urticaria is intensely pruritic, and blanches completely with pressure.
Telangiectasia macularis eruptiva perstans
MedGen UID:
78094
Concept ID:
C0263402
Disease or Syndrome
Hypermelanotic macule
MedGen UID:
375013
Concept ID:
C1842774
Finding
A hyperpigmented circumscribed area of change in normal skin color without elevation or depression of any size.

Conditions with this feature

Cutaneous mastocytosis
MedGen UID:
210143
Concept ID:
C1136033
Finding
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).
Hennekam-Beemer syndrome
MedGen UID:
462843
Concept ID:
C3151493
Disease or Syndrome
A rare multiple congenital anomalies syndrome characterized by cutaneous mastocytosis, microcephaly, microtia and/or hearing loss, hypotonia and skeletal anomalies (e.g. clinodactyly, camptodactyly, scoliosis). Additional common features are short stature, intellectual disability and difficulties. Facial dysmorphism may include upslanted palpebral fissures, highly arched palate and micrognathia. Rarely, seizures and asymmetrically small feet have been reported.

Professional guidelines

PubMed

Lau S, Sprung J, Volcheck GW, Butterfield JH, Divekar RD, Weingarten TN
J Anesth 2023 Oct;37(5):741-748. Epub 2023 Jul 19 doi: 10.1007/s00540-023-03228-x. PMID: 37466804
Marzano AV, Maronese CA, Genovese G, Ferrucci S, Moltrasio C, Asero R, Cugno M
J Allergy Clin Immunol 2022 Apr;149(4):1137-1149. doi: 10.1016/j.jaci.2022.02.007. PMID: 35396080
Pardanani A, Akin C, Valent P
Best Pract Res Clin Haematol 2006;19(3):595-615. doi: 10.1016/j.beha.2005.07.010. PMID: 16781490

Recent clinical studies

Etiology

Renke J, Irga-Jaworska N, Lange M
Immunol Allergy Clin North Am 2023 Nov;43(4):665-679. Epub 2023 May 19 doi: 10.1016/j.iac.2023.04.001. PMID: 37758405
Valent P, Akin C, Sperr WR, Horny HP, Arock M, Metcalfe DD, Galli SJ
Annu Rev Pathol 2023 Jan 24;18:361-386. Epub 2022 Oct 21 doi: 10.1146/annurev-pathmechdis-031521-042618. PMID: 36270293
Hussain SH
Curr Opin Pediatr 2020 Aug;32(4):531-538. doi: 10.1097/MOP.0000000000000922. PMID: 32692050
VAN Gysel D, DE Maeseneer H, Oranje AP
G Ital Dermatol Venereol 2016 Aug;151(4):385-96. Epub 2016 Apr 12 PMID: 27070304
Black AK
J Dermatol 2001 Nov;28(11):632-4. doi: 10.1111/j.1346-8138.2001.tb00050.x. PMID: 11770721

Diagnosis

Valent P, Akin C, Sperr WR, Horny HP, Arock M, Metcalfe DD, Galli SJ
Annu Rev Pathol 2023 Jan 24;18:361-386. Epub 2022 Oct 21 doi: 10.1146/annurev-pathmechdis-031521-042618. PMID: 36270293
Leguit RJ, Wang SA, George TI, Tzankov A, Orazi A
Virchows Arch 2023 Jan;482(1):99-112. Epub 2022 Oct 10 doi: 10.1007/s00428-022-03423-3. PMID: 36214901
Marzano AV, Maronese CA, Genovese G, Ferrucci S, Moltrasio C, Asero R, Cugno M
J Allergy Clin Immunol 2022 Apr;149(4):1137-1149. doi: 10.1016/j.jaci.2022.02.007. PMID: 35396080
Di Raimondo C, Del Duca E, Silvaggio D, Di Prete M, Lombardo P, Mazzeo M, Spallone G, Campione E, Botti E, Bianchi L
Australas J Dermatol 2021 Feb;62(1):e1-e7. Epub 2020 Oct 11 doi: 10.1111/ajd.13443. PMID: 33040350
Hartmann K, Escribano L, Grattan C, Brockow K, Carter MC, Alvarez-Twose I, Matito A, Broesby-Olsen S, Siebenhaar F, Lange M, Niedoszytko M, Castells M, Oude Elberink JNG, Bonadonna P, Zanotti R, Hornick JL, Torrelo A, Grabbe J, Rabenhorst A, Nedoszytko B, Butterfield JH, Gotlib J, Reiter A, Radia D, Hermine O, Sotlar K, George TI, Kristensen TK, Kluin-Nelemans HC, Yavuz S, Hägglund H, Sperr WR, Schwartz LB, Triggiani M, Maurer M, Nilsson G, Horny HP, Arock M, Orfao A, Metcalfe DD, Akin C, Valent P
J Allergy Clin Immunol 2016 Jan;137(1):35-45. Epub 2015 Oct 21 doi: 10.1016/j.jaci.2015.08.034. PMID: 26476479

Therapy

Pardanani A, Reichard K, Tefferi A
Br J Haematol 2024 Feb;204(2):402-414. Epub 2023 Dec 6 doi: 10.1111/bjh.19245. PMID: 38054381
Lau S, Sprung J, Volcheck GW, Butterfield JH, Divekar RD, Weingarten TN
J Anesth 2023 Oct;37(5):741-748. Epub 2023 Jul 19 doi: 10.1007/s00540-023-03228-x. PMID: 37466804
Hussain SH
Curr Opin Pediatr 2020 Aug;32(4):531-538. doi: 10.1097/MOP.0000000000000922. PMID: 32692050
Mashiah J, Harel A, Bodemer C, Hadj-Rabia S, Goldberg I, Sprecher E, Kutz A
Clin Exp Dermatol 2018 Jul;43(5):559-565. Epub 2018 Feb 20 doi: 10.1111/ced.13391. PMID: 29460435
Black AK
J Dermatol 2001 Nov;28(11):632-4. doi: 10.1111/j.1346-8138.2001.tb00050.x. PMID: 11770721

Prognosis

Valent P, Akin C, Sperr WR, Horny HP, Arock M, Metcalfe DD, Galli SJ
Annu Rev Pathol 2023 Jan 24;18:361-386. Epub 2022 Oct 21 doi: 10.1146/annurev-pathmechdis-031521-042618. PMID: 36270293
Di Raimondo C, Del Duca E, Silvaggio D, Di Prete M, Lombardo P, Mazzeo M, Spallone G, Campione E, Botti E, Bianchi L
Australas J Dermatol 2021 Feb;62(1):e1-e7. Epub 2020 Oct 11 doi: 10.1111/ajd.13443. PMID: 33040350
Hussain SH
Curr Opin Pediatr 2020 Aug;32(4):531-538. doi: 10.1097/MOP.0000000000000922. PMID: 32692050
Hartmann K, Escribano L, Grattan C, Brockow K, Carter MC, Alvarez-Twose I, Matito A, Broesby-Olsen S, Siebenhaar F, Lange M, Niedoszytko M, Castells M, Oude Elberink JNG, Bonadonna P, Zanotti R, Hornick JL, Torrelo A, Grabbe J, Rabenhorst A, Nedoszytko B, Butterfield JH, Gotlib J, Reiter A, Radia D, Hermine O, Sotlar K, George TI, Kristensen TK, Kluin-Nelemans HC, Yavuz S, Hägglund H, Sperr WR, Schwartz LB, Triggiani M, Maurer M, Nilsson G, Horny HP, Arock M, Orfao A, Metcalfe DD, Akin C, Valent P
J Allergy Clin Immunol 2016 Jan;137(1):35-45. Epub 2015 Oct 21 doi: 10.1016/j.jaci.2015.08.034. PMID: 26476479
Black AK
J Dermatol 2001 Nov;28(11):632-4. doi: 10.1111/j.1346-8138.2001.tb00050.x. PMID: 11770721

Clinical prediction guides

Lübke J, Schwaab J, Christen D, Elberink HO, Span B, Niedoszytko M, Gorska A, Lange M, Gleixner KV, Hadzijusufovic E, Solomianyi O, Angelova-Fischer I, Zanotti R, Bonifacio M, Bonadonna P, Shoumariyeh K, von Bubnoff N, Müller S, Perkins C, Elena C, Malcovati L, Hagglund H, Mattsson M, Parente R, Varkonyi J, Fortina AB, Caroppo F, Zink A, Brockow K, Breynaert C, Bullens D, Yavuz AS, Doubek M, Sabato V, Schug T, Niederwieser D, Hartmann K, Triggiani M, Gotlib J, Hermine O, Arock M, Kluin-Nelemans HC, Panse J, Sperr WR, Valent P, Reiter A, Jawhar M
J Allergy Clin Immunol Pract 2023 Feb;11(2):581-590.e5. Epub 2022 Nov 17 doi: 10.1016/j.jaip.2022.10.051. PMID: 36403897
Velázquez-Ávila Y, Valenciano-Rodríguez CR
MEDICC Rev 2021 Apr;23(2):34. Epub 2021 Apr 30 doi: 10.37757/MR2021.V23.N2.10. PMID: 33974602
Hatch EW, Geeze MB, Martin C, Salama ME, Hartmann K, Eisenwort G, Blatt K, Valent P, Gotlib J, Lee JH, Chen L, Ward HH, Lidke DS, George TI
Blood Adv 2018 Feb 13;2(3):189-199. doi: 10.1182/bloodadvances.2017011551. PMID: 29378725Free PMC Article
Hartmann K, Escribano L, Grattan C, Brockow K, Carter MC, Alvarez-Twose I, Matito A, Broesby-Olsen S, Siebenhaar F, Lange M, Niedoszytko M, Castells M, Oude Elberink JNG, Bonadonna P, Zanotti R, Hornick JL, Torrelo A, Grabbe J, Rabenhorst A, Nedoszytko B, Butterfield JH, Gotlib J, Reiter A, Radia D, Hermine O, Sotlar K, George TI, Kristensen TK, Kluin-Nelemans HC, Yavuz S, Hägglund H, Sperr WR, Schwartz LB, Triggiani M, Maurer M, Nilsson G, Horny HP, Arock M, Orfao A, Metcalfe DD, Akin C, Valent P
J Allergy Clin Immunol 2016 Jan;137(1):35-45. Epub 2015 Oct 21 doi: 10.1016/j.jaci.2015.08.034. PMID: 26476479
Torrelo A, Alvarez-Twose I, Escribano L
Curr Opin Pediatr 2012 Aug;24(4):480-6. doi: 10.1097/MOP.0b013e328355b248. PMID: 22790101

Recent systematic reviews

Kampa F, Mitteldorf C
J Cutan Pathol 2021 Apr;48(4):495-510. Epub 2020 Nov 6 doi: 10.1111/cup.13894. PMID: 33047376
Jendoubi F, Gaudenzio N, Gallini A, Negretto M, Paul C, Bulai Livideanu C
Clin Exp Allergy 2020 Jun;50(6):654-661. Epub 2020 Mar 25 doi: 10.1111/cea.13592. PMID: 32107810
Le M, Miedzybrodzki B, Olynych T, Chapdelaine H, Ben-Shoshan M
Postgrad Med 2017 Nov;129(8):896-901. Epub 2017 Aug 21 doi: 10.1080/00325481.2017.1364124. PMID: 28770635
Méni C, Bruneau J, Georgin-Lavialle S, Le Saché de Peufeilhoux L, Damaj G, Hadj-Rabia S, Fraitag S, Dubreuil P, Hermine O, Bodemer C
Br J Dermatol 2015 Mar;172(3):642-51. Epub 2015 Feb 8 doi: 10.1111/bjd.13567. PMID: 25662299

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