:Solitary mastocytoma

Solitary mastocytoma usually presents as an indurated, erythematous, round or oval, yellow-brown or reddish-brown, papule, plaque, or nodule, typically measuring 1 to 5 cm in diameter.{{cite journal | last1=Leung | first1=Alexander K. C. | last2=Lam | first2=Joseph M. | last3=Leong | first3=Kin Fon | title=Childhood Solitary Cutaneous Mastocytoma: Clinical Manifestations, Diagnosis, Evaluation, and Management | journal=Current Pediatric Reviews | publisher=Bentham Science Publishers Ltd. | volume=15 | issue=1 | date=2019-04-05 | issn=1573-3963 | doi=10.2174/1573396315666181120163952 | pages=42–46| pmid=30465511 | pmc=6696819 }} The lesion frequently has a leathery or rubbery nature and a peau d'orange (pebbly, orange peel-like) appearance.{{cite journal | last1=Gori | first1=Abdulla | last2=Torneria | first2=Carlos | last3=Kelly | first3=Victoria M. | last4=Zlotoff | first4=Barrett J. | last5=Contreras | first5=Michael E. | title=Visual Diagnosis | journal=Pediatrics in Review | publisher=American Academy of Pediatrics (AAP) | volume=30 | issue=7 | date=2009-07-01 | issn=0191-9601 | doi=10.1542/pir.30.7.280 | pages=280–283| pmid=19570927 }} The margins of the lesions may be sharp or vague.{{cite journal | last1=Hartmann | first1=Karin | last2=Escribano | first2=Luis | last3=Grattan | first3=Clive | last4=Brockow | first4=Knut | last5=Carter | first5=Melody C. | last6=Alvarez-Twose | first6=Ivan | last7=Matito | first7=Almudena | last8=Broesby-Olsen | first8=Sigurd | last9=Siebenhaar | first9=Frank | last10=Lange | first10=Magdalena | last11=Niedoszytko | first11=Marek | last12=Castells | first12=Mariana | last13=Oude Elberink | first13=Joanna N.G. | last14=Bonadonna | first14=Patrizia | last15=Zanotti | first15=Roberta | last16=Hornick | first16=Jason L. | last17=Torrelo | first17=Antonio | last18=Grabbe | first18=Jürgen | last19=Rabenhorst | first19=Anja | last20=Nedoszytko | first20=Boguslaw | last21=Butterfield | first21=Joseph H. | last22=Gotlib | first22=Jason | last23=Reiter | first23=Andreas | last24=Radia | first24=Deepti | last25=Hermine | first25=Olivier | last26=Sotlar | first26=Karl | last27=George | first27=Tracy I. | last28=Kristensen | first28=Thomas K. | last29=Kluin-Nelemans | first29=Hanneke C. | last30=Yavuz | first30=Selim | last31=Hägglund | first31=Hans | last32=Sperr | first32=Wolfgang R. | last33=Schwartz | first33=Lawrence B. | last34=Triggiani | first34=Massimo | last35=Maurer | first35=Marcus | last36=Nilsson | first36=Gunnar | last37=Horny | first37=Hans-Peter | last38=Arock | first38=Michel | last39=Orfao | first39=Alberto | last40=Metcalfe | first40=Dean D. | last41=Akin | first41=Cem | last42=Valent | first42=Peter | title=Cutaneous manifestations in patients with mastocytosis: Consensus report of the European Competence Network on Mastocytosis; the American Academy of Allergy, Asthma & Immunology; and the European Academy of Allergology and Clinical Immunology | journal=Journal of Allergy and Clinical Immunology | publisher=Elsevier BV | volume=137 | issue=1 | year=2016 | issn=0091-6749 | doi=10.1016/j.jaci.2015.08.034 | pages=35–45| pmid=26476479 }} The degree of pruritus varies; a lesion may be mildly itchy or asymptomatic.{{cite journal | last1=Puri | first1=Poonam | last2=Singh | first2=Avninder | last3=Ramesh | first3=V | last4=Gopal | first4=Dhruv | title=Asymptomatic solitary cutaneous mastocytoma: A rare presentation | journal=Indian Journal of Dermatology | publisher=Medknow | volume=59 | issue=6 | year=2014 | issn=0019-5154 | doi=10.4103/0019-5154.143588 | doi-access=free | page=634| pmid=25484432 | pmc=4248540 }} It normally develops larger for a few months, then for a variable amount of time grows in accordance to the patients size before gradually shrinking. The head and neck are the sites of predilection, followed by the trunk, extremities, and flexural areas.{{cite journal | last1=Briley | first1=Laura D. | last2=Phillips | first2=Charles M. | title=Cutaneous Mastocytosis: A Review Focusing on the Pediatric Population | journal=Clinical Pediatrics | publisher=SAGE Publications | volume=47 | issue=8 | year=2008 | issn=0009-9228 | doi=10.1177/0009922808318344 | pages=757–761| pmid=18502981 }} Usually, the soles and palms are unaffected.{{cite journal | last1=Janakiramanan | first1=N. | last2=Chambers | first2=D. | last3=Dowling | first3=G.J. | title=A rare presentation of solitary mastocytoma in the palm of an infant | journal=Journal of Plastic, Reconstructive & Aesthetic Surgery | publisher=Elsevier BV | volume=63 | issue=2 | year=2010 | issn=1748-6815 | doi=10.1016/j.bjps.2009.02.061 | pages=e197–e198| pmid=19502121 }}

The lesion may urticate on its own initiative or, more frequently, in response to being stroked or rubbed. The lesion becomes itchy, erythematous, or edematous when touched or rubbed; this reaction is known as the Darier sign.{{cite journal | last1=Bulat | first1=Vedrana | last2=Mihić | first2=Liborija Lugović | last3=Situm | first3=Mirna | last4=Buljan | first4=Marija | last5=Blajić | first5=Iva | last6=Pusić | first6=Jana | title=Most common clinical presentations of cutaneous mastocytosis | journal=Acta Clinica Croatica | volume=48 | issue=1 | date=2009 | issn=0353-9466 | pmid=19623875 | pages=59–64}} The phenomenon is regarded as pathognomonic since it is brought on by the release of mast cell mediators in response to physical stimulus.{{cite journal | last1=De Giorgi | first1=Vincenzo | last2=Fabroni | first2=Caterina | last3=Alfaioli | first3=Barbara | last4=Massi | first4=Daniela | last5=Maio | first5=Vincenza | last6=Sestini | first6=Serena | last7=Papi | first7=Federica | last8=Gori | first8=Alessia | last9=Lotti | first9=Torello | title=Solitary mastocytoma: tooth eruption as triggering factor | journal=International Journal of Dermatology | publisher=Wiley | volume=47 | issue=12 | date=2008-11-25 | issn=0011-9059 | doi=10.1111/j.1365-4632.2008.03841.x | pages=1274–1277| pmid=19126015 }} The diagnosis of mastocytosis is not ruled out in the absence of a positive Darier sign because it is evoked in only around 50% and 90% of patients with solitary mastocytoma and other kinds of cutaneous mastocytosis, respectively.{{cite journal | last1=Krishnan | first1=Karthik R. | last2=Ownby | first2=Dennis R. | title=A solitary mastocytoma presenting with urticaria and angioedema in a 14-year-old boy | journal=Allergy and Asthma Proceedings | publisher=Oceanside Publications Inc. | volume=31 | issue=6 | date=2010-11-01 | issn=1088-5412 | doi=10.2500/aap.2010.31.3368 | pages=520–523| pmid=21708063 }}{{cite journal | last1=Conrad | first1=Heather | last2=Gausche-Hill | first2=Marianne | last3=Burbulys | first3=David | title=A 6-Month Old With Total Body Flushing and a Macular-Papular Lesion | journal=Pediatric Emergency Care | publisher=Ovid Technologies (Wolters Kluwer Health) | volume=23 | issue=5 | year=2007 | issn=0749-5161 | doi=10.1097/01.pec.0000270165.85862.12 | pages=321–323| pmid=17505276 }} Certain lesions may erupt in painful blisters.{{cite journal | last1=Singal | first1=A | last2=Aggarwal | first2=S | last3=Pandhi | first3=D | title=Adult onset, hypopigmented solitary mastocytoma: Report of two cases | journal=Indian Journal of Dermatology, Venereology and Leprology | publisher=Scientific Scholar | volume=74 | issue=1 | year=2008 | pages=41–43 | issn=0378-6323 | doi=10.4103/0378-6323.38407 | doi-access=free | pmid=18187823 | hdl=1807/48039 | hdl-access=free }}

Patients with solitary cutaneous mastocytosis may also experience systemic symptoms, however they are far more common in those with systemic mastocytosis. These symptoms include flushing, dyspnea, hypotension, nausea, vomiting, abdominal discomfort, diarrhea, and headaches.{{cite journal | last1=Exposito-Serrano | first1=Vicente | last2=Agut-Busquet | first2=Eugenia | last3=Leal Canosa | first3=Lorena | last4=Herrerías Moreno | first4=Jose | last5=Saez | first5=Amparo | last6=Luelmo | first6=Jesús | title=Pleomorphic mastocytoma in an adult | journal=Journal of Cutaneous Pathology | publisher=Wiley | volume=45 | issue=2 | date=2017-12-11 | issn=0303-6987 | doi=10.1111/cup.13080 | pages=176–179| pmid=29148588 }}

Exon 17 KIT mutations are present in about 40% of children with cutaneous mastocytosis, while KIT mutations outside of exon 17 (such as exon 8, 9, 10, 11) are present in another 40% of children, and no KIT mutations are present in the other children.{{cite journal | last1=Wiechers | first1=Tim | last2=Rabenhorst | first2=Anja | last3=Schick | first3=Tina | last4=Preussner | first4=Liane M. | last5=Förster | first5=Anja | last6=Valent | first6=Peter | last7=Horny | first7=Hans-Peter | last8=Sotlar | first8=Karl | last9=Hartmann | first9=Karin | title=Large maculopapular cutaneous lesions are associated with favorable outcome in childhood-onset mastocytosis | journal=Journal of Allergy and Clinical Immunology | publisher=Elsevier BV | volume=136 | issue=6 | year=2015 | issn=0091-6749 | doi=10.1016/j.jaci.2015.05.034 | pages=1581–1590.e3| pmid=26152315 }} Increased expression of stem cell factor has been observed in certain children with cutaneous mastocytosis, and stem cell factor plays a crucial role in mast cell development. There have been reports of solitary cutaneous mastocytomas developing at trauma sites, like immunization sites.{{cite journal | last1=Koh | first1=Mark Jean Aan | last2=Chong | first2=Wei Sheng | title=Red Plaque After Hepatitis B Vaccination | journal=Pediatric Dermatology | publisher=Wiley | volume=25 | issue=3 | year=2008 | issn=0736-8046 | doi=10.1111/j.1525-1470.2008.00710.x | pages=381–382| pmid=18577051 }}{{cite journal | last1=Tuxen | first1=Alana Jane | last2=Orchard | first2=David | title=Solitary mastocytoma occurring at a site of trauma | journal=Australasian Journal of Dermatology | publisher=Wiley | volume=50 | issue=2 | date=2009-04-23 | issn=0004-8380 | doi=10.1111/j.1440-0960.2009.00526.x | pages=133–135| pmid=19397569 }}

It has been demonstrated that in solitary cutaneous mastocytomas, melanocyte stimulation results in elevated local concentrations of soluble mast cell growth factors.{{cite journal | last=Okun | first=M. R. | title=Mast cells, melanocytes, balloon cells | journal=The American Journal of Dermatopathology | volume=4 | issue=5 | date=1982 | issn=0193-1091 | pmid=7149204 | pages=478–479| doi=10.1097/00000372-198210000-00019 }}{{cite journal | last=Cohen | first=Philip R. | title=Solitary mastocytoma presenting in an adult: report and literature review of adult-onset solitary cutaneous mastocytoma with recommendations for evaluation and treatment | journal=Dermatology Practical & Conceptual | publisher=Mattioli1885 | date=2016-07-31 | volume=6 | issue=3 | issn=2160-9381 | doi=10.5826/dpc.0603a07 | pages=31–38| pmid=27648381 | pmc=5006550 }} Melanin pigment is produced locally as a result of melanocyte proliferation. This explains why the lesion in a solitary cutaneous mastocytoma appears hyperpigmented.

Based on the lesion's shape, the existence of a positive Darier sign, and the lack of systemic involvement, the diagnosis is primarily clinical.{{cite journal | last1=Azaña | first1=J.M. | last2=Torrelo | first2=A. | last3=Matito | first3=A. | title=Actualización en mastocitosis. Parte 1: fisiopatología, clínica y diagnóstico | journal=Actas Dermo-Sifiliográficas | publisher=Elsevier BV | volume=107 | issue=1 | year=2016 | issn=0001-7310 | doi=10.1016/j.ad.2015.09.007 | pages=5–14 | language=es| doi-access=free }} If necessary, a skin biopsy can be used to confirm the diagnosis by demonstrating a KIT mutation in the lesional skin and confirming mast cell infiltration in the dermis.

Most treatments are symptomatic. For the most part, reassurance and avoiding triggers are sufficient.{{cite journal | last1=Klaiber | first1=Nicholas | last2=Kumar | first2=Santhosh | last3=Irani | first3=Anne-Marie | title=Mastocytosis in Children | journal=Current Allergy and Asthma Reports | publisher=Springer Science and Business Media LLC | volume=17 | issue=11 | date=2017-10-07 | issn=1529-7322 | doi=10.1007/s11882-017-0748-4 | page=}}{{cite journal | last1=Sonthalia | first1=Sidharth | last2=Nair | first2=Brijesh | last3=Aggarwal | first3=Ishad | title=Solitary mastocytoma with positive Darier′s sign | journal=Indian Dermatology Online Journal | publisher=Medknow | volume=7 | issue=2 | year=2016 | pages=141–142 | issn=2229-5178 | doi=10.4103/2229-5178.178091 | doi-access=free | pmid=27057508 | pmc=4804594 }} The mainstay of treatment for pruritus and flushing is oral H1 antihistamines. Oral H2 antihistamines may be used for further benefit in severe situations. In patients with gastrointestinal symptoms (heartburn, abdominal discomfort, bloating, diarrhea) related to solitary cutaneous mastocytoma, oral H2 antihistamines, either with or without oral cromoglycate, should be investigated. Using air conditioning in hot weather, bathing in lukewarm water, and removing or avoiding triggers are examples of preventative methods.{{cite journal | last1=Chantorn | first1=Rattanavalai | last2=Shwayder | first2=Tor | title=Death from Mast Cell Leukemia: A Young Patient with Longstanding Cutaneous Mastocytosis Evolving into Fatal Mast Cell Leukemia | journal=Pediatric Dermatology | publisher=Wiley | volume=29 | issue=5 | date=2012-02-14 | issn=0736-8046 | doi=10.1111/j.1525-1470.2011.01650.x | pages=605–609| pmid=22329485 }}

• Mastocytosis
• Skin lesion

{{reflist}}

• {{cite journal | last1=McKinnon | first1=Elizabeth L. | last2=Rand | first2=Andrew J. | last3=Proia | first3=Alan D. | title=Solitary mastocytoma in the eyelid of an adult | journal=American Journal of Ophthalmology Case Reports | publisher=Elsevier BV | volume=9 | year=2018 | issn=2451-9936 | doi=10.1016/j.ajoc.2018.01.009 | pages=103–105 | pmid=29468227 | ref=none| pmc=5787878 }}
• {{cite journal | last1=Khan | first1=Kelly | last2=Kupferman | first2=Michael E. | last3=Gardner | first3=Jerad M. | last4=Ivan | first4=Doina | title=Solitary mastocytoma in an adult with an unusual clinical presentation | journal=Journal of the American Academy of Dermatology | volume=65 | issue=3 | date=2011 | doi=10.1016/j.jaad.2010.08.013 | pages=683–684 | pmid=21839341 | ref=none}}

• [https://dermnetnz.org/topics/mastocytoma DermNet]
• [https://childrenswi.org/publications/teaching-sheet/dermatology/1870-solitary-mastocytoma Children's Wisconsin]

{{Medical resources

| ICD11 = {{ICD11|2A21.1Y}}

| ICD10 = {{ICD10|Q82.2}}

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| MeshID = D054705

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| SNOMED CT = 397013007

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| GARDNum = 12687

| GARDName = Cutaneous mastocytoma

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| Orphanet = 79455

| Scholia = Q7558253

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{{Myeloid malignancy}}

Category:Dermal and subcutaneous growths