They usually present within 2 years of age, mostly within first 3 months 1. [f1000research.com]

Dermatology Quiz Case presentation A 9-month-old girl presents with a raised lesion on her back (Figure 1). The lesion has a light yellow to orange hue and is of recent onset. She is not bothered by it and is otherwise well. [medicinetoday.com.au]

Based on this presentation, the child received a diagnosis of a solitary mastocytoma with no systemic involvement. [consultant360.com]

There is, at present, no evidence of a reproducibly effective therapy for this systemic disease, and symptoms can only be controlled by various medications. [link.springer.com]

These solitary collections of mast cells are most often present at birth, but they can also develop during the first few weeks of life. [aocd.org]

• Amyloidosis

  Sotlar K, Saeger W, Stellmacher F, Stahmer J, Jäckle S, Valent P, Horny H-P: ‘Occult’ mastocytosis with activating c-kit point mutation evolving into systemic mastocytosis associated with plasma cell myeloma and secondary amyloidosis. [karger.com]

• Splenomegaly

  Clinically, there is no evidence of palpable hepatomegaly and splenomegaly, malabsorption syndrome, or pathologic fractures. [icd10data.com]

  Hepatomegaly and splenomegaly. Cardiovascular: Syncope, hypotension or anaphylactic shock. Haematological and bones: Anaemia or other cytopenias (if bone marrow involvement). Hypersplenism. Lymphadenopathy. Fractures (if bone marrow involved). [patient.info]

  Splenomegaly is attributable to mast cell infiltration although portal hypertension secondary to hepatic fibrosis may also be contributory. Bony lesions are common with a mixture of osteosclerosis and/or osteopenia. [cancertherapyadvisor.com]

  Thus, findings of localized bone tenderness, hepatomegaly, splenomegaly, or lymphadenopathy on physical examination may serve as important clinical signs of systemic involvement. [sdominko.tripod.com]

  She was found to have splenomegaly, a high infiltration grade (MC) in bone marrow biopsies (>30%), mild anemia, and a high serum tryptase level (>500 ng/ml). [thedoctorsdoctor.com]

• Hepatomegaly

  Systemic symptoms (including flushing, hypotension, severe anaphylaxis, hepatomegaly, diarrhea and gastrointestinal bleeding) appear to be more common in DCM than in other forms of CM with systemic symptoms. [mastowyattwarrior.org]

  Clinically, there is no evidence of palpable hepatomegaly and splenomegaly, malabsorption syndrome, or pathologic fractures. [icd10data.com]

  Hepatomegaly and splenomegaly. Cardiovascular: Syncope, hypotension or anaphylactic shock. Haematological and bones: Anaemia or other cytopenias (if bone marrow involvement). Hypersplenism. Lymphadenopathy. Fractures (if bone marrow involved). [patient.info]

  Thus, findings of localized bone tenderness, hepatomegaly, splenomegaly, or lymphadenopathy on physical examination may serve as important clinical signs of systemic involvement. [sdominko.tripod.com]

  Fatigue, splenomegaly, and hepatomegaly were more frequent in adults without cutaneous involvement; and in those with a greater density of lesions and disease duration. [thedoctorsdoctor.com]

• Osteoporosis

  […] in mastocytosis: Utility as a diagnostic and prognostic tool; Morphology of mastocytosis with special reference to immunophenotypical aberrancies; CD30 expression in mastocytosis; Extramedullary mastocytosis: Pathologic aspects; Bone involvement and osteoporosis [books.google.com]

  Acid hydrolases Bone lesions, osteoporosis Lipid mediators Leukotrienes Bronchoconstriction, increased vascular permeability and contractility Prostaglandin D 2 Pruritus, pain, rhinorrhea, hypotension, flushing, osteoporosis Platelet-activating factor [aafp.org]

  […] aggressive Spectrum of symptoms depending on type Symptoms related to mast cell degranulation: episodic blisters, flushing, diarrhea, abdominal pain, musculoskeletal pain, hypotension, peptic ulcers Musculoskeletal symptoms: arthralgia, myalgia, bone pain, osteoporosis [pathologyoutlines.com]

  These mediators can cause headache, osteoporosis, bone pain, nausea, itching, diarrhoea, abdominal discomfort and cramping, an ulcerative disease of the stomach, hypotension, and even severe anaphylactoid reactions with shock. [ecnm.net]

  Complications may 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 [dermnetnz.org]

• Arthralgia

  […] spots with an orange-peel texture Severe itching (pruritus) Systemic conditions such as: Abdominal pain Difficulty breathing Rapid heart rate (tachycardia) Headache Bone, joint, and muscle signs and symptoms such as: Bone pain (ostealgia) Joint pain (arthralgia [dovemed.com]

  […] from benign self limited to aggressive Spectrum of symptoms depending on type Symptoms related to mast cell degranulation: episodic blisters, flushing, diarrhea, abdominal pain, musculoskeletal pain, hypotension, peptic ulcers Musculoskeletal symptoms: arthralgia [pathologyoutlines.com]

• Urticaria

  Gross P (1934) Urticaria pigmentosa (solitary lesion). Arch Dermatol Syph 29:451 Google Scholar 10. Jelinek JE, Penzinger H (1971) Urticaria pigmentosa in three siblings. Arch Dermatol 103:458 Google Scholar 11. [link.springer.com]

  Differential diagnosis of urticaria pigmentosa Urticaria pigmentosa should be distinguished from urticaria with pigmentation, drug rash, reticulosis of skin, pigment nevus, histocytosis -X, xanthomatosis. [m.iliveok.com]

  Urticaria pigmentosa Mastocytosis Localized mastocytosis • Focal: Single skin lesion: mast cell 'nevus' • Generalized: Urticaria pigmentosa Systemic mastocytosis • Indolent • Progressive • Malignant Mast cell leukemia Mast cell sarcoma Pathogenesis Some [medical-dictionary.thefreedictionary.com]

  Severity and duration of aspirin-induced urticaria showed a positive correlation with urinary LTE4 excretion. Naproxen precipitated urticaria in 5 of 7 aspirin-sensitive patients and caused further increase in urinary LTE4. [aaaai.org]

  Urticaria Pigmentosa Urticaria Pigmentosa (UP) is the most commonly observed type of mastocytosis that occurs in children. [sdominko.tripod.com]

• Skin Disease

  disease in mastocytosis; Treatment of advanced mastocytosis; Treatment strategies of mediator related symptoms in mastocytosis; and Neuro and psychological involvement in Mastocytosis. [books.google.com]

  > Mastocytoma Skin and Connective Tissue Diseases > Skin Diseases > Mastocytosis > Mastocytoma PREFERRED TERM Mastocytoma BROADER CONCEPT Mastocytosis NARROWER CONCEPTS Mastocytoma, Skin ENTRY TERMS Benign Mastocytoma Mastocytoma, Benign NOTE unifocal [finto.fi]

  Mastocytosis is a rare disease. Its most common form, urticaria pigmentosa (UP), affects the skin and is characterized by multiple persistent small reddish-brown lesions that result from infiltration of the skin by mast cells. [mayomedicallaboratories.com]

  Mastocytoma of skin. Systemic mastocytosis: Indolent systemic mastocytosis. Systemic mastocytosis with associated haematological non-mast cell lineage disease (SM-AHNMD). Aggressive systemic mastocytosis. Mast cell leukaemia (very rare). [patient.info]

  In childhood, the risk of anaphylactic episodes has been shown to be limited to those with extensive blistering skin disease, but nonexistent for children with mastocytoma or limited disease. [emedicine.medscape.com]

• Eczema

  : Pimecrolimus, a topical calcineurin inhibitor used in the treatment of atopic eczema. Expert Opin Drug Metab Toxicol. 2013; 9 (11): 1507–16. PubMed Abstract | Publisher Full Text 9. [f1000research.com]

Without specific symptoms relating to a particular organ system, an elaborate and extensive staging workup is not indicated. [link.springer.com]

Apply the latest best practices through new and updated treatment algorithms. Find therapeutic drug information more easily with guidance incorporated into each chapter. [books.google.com]

TESTS Skin biopsy Treatment Most patients do not receive treatment; mastocytomas often disappear with age. COMMON TREATMENT OPTIONS Oral Antihistamines: relieve itching Surgical Excision [knowcancer.com]

Ameet Dandale were involved in clinical diagnosis, work-up, treatment and writing up of this case report. [f1000research.com]

Mast cell sarcomas, part of the systemic forms of mastocytosis, are very rare tumors characterized by a destructive growth of highly atypical mast cells, with secondary spread, poor prognosis, and low survival rates. [ncbi.nlm.nih.gov]

In SM-AHNMD, the prognosis depends on the course of the associated haematological disorder. Agressive systemic mastocytosis and mast cell leukaemia have a poorer prognosis. [patient.info]

Articles in this issue include Human Mast Cell Signal Transduction; Mast cell tryptase role in homeostasis and coagulation; Mastocytosis: Current Classification and Diagnostic criteria; Epidemiology, risk factors and prognosis of mastocytosis; Mast cell [books.google.com]

In general, the prognosis of childhood mastocytosis is very good. [ecnm.net]

Prognosis Prognosis depends on age, severity, and clinical subtype. There are limited data regarding long-term follow-up in childhood group. Childhood mastocytosis has a good prognosis. 50-60% of children improve by adolescence. [ijpd.in]

(Etiology) The cause of Mastocytosis is usually genetic. Specifically, it is a small change (mutation) in the region of DNA of a receptor called C-KIT. [dovemed.com]

Extracutaneous mastocytoma Mast cell sarcoma (MSS) Epidemiology Uncommon Affects males more than females Bimodal age; affects pediatric age groups and adults Bone marrow and bone involvement are present in up to 90% of SM cases, followed by other organs Etiology [pathologyoutlines.com]

Etiology The etiology of mastocytosis remains unknown. Children who develop this disease usually have a self-limited disorder, whih often resolves before adulthood. [sdominko.tripod.com]

Etiology Mastocytosis probably is a hyperplastic response to an abnormal stimulus. [emedicine.medscape.com]

This observation, along with clinical disease heterogeneity has long suggested that mastocytosis is a disease of complex etiology. [thedoctorsdoctor.com]

Articles in this issue include Human Mast Cell Signal Transduction; Mast cell tryptase role in homeostasis and coagulation; Mastocytosis: Current Classification and Diagnostic criteria; Epidemiology, risk factors and prognosis of mastocytosis; Mast cell [books.google.com]

Indolent systemic mastocytosis (ISM) Systemic mastocytosis with an associated clonal hematopoietic non mast cell lineage disease (SM-AHNMD) Aggressive systemic mastocytosis (ASM) Mast cell leukemia (MCL) Extracutaneous mastocytoma Mast cell sarcoma (MSS) Epidemiology [pathologyoutlines.com]

Table 1: Classification of mastocytosis (modified from Horny et al. 2008) Click here to view Epidemiology Epidemiological data in Indian population are exactly not known. [ijpd.in]

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]

[…] mastocytosis and HIV seroconversion, proposing similarities of immunoglobulin E receptors on mast cells and basophils and the association of basophils in HIV pathophysiology. [14] Autism spectrum disorders may be increased in children with mastocytosis. [15] Epidemiology [emedicine.medscape.com]

It brings together the pathophysiology of disease with detailed clinical guidance on diagnosis and management for the full range of childhood cancers, including aspects important in optimal supportive care. [books.google.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]

[…] systemic allergic reactions Monitoring therapeutic progress in conditions that are associated with secondary, localized, low-grade persistent, mast-cell proliferation and activation such as interstitial cystitis Clinical Information Discusses physiology, pathophysiology [mayomedicallaboratories.com]

Pathophysiology Gain-of-function somatic mutations in the KIT tyrosine kinase domain in mast cells are considered necessary, but not sufficient alterations to explain all of the clinical manifestations of SM. [cancertherapyadvisor.com]

In addition to the age of onset, adult and pediatric forms of mastocytosis differ in their clinical course and pathophysiology. [sdominko.tripod.com]

However if these lesions are causing irritation, covering a mastocytoma with a special type of bandage (hydrocolloid dressing) will prevent rubbing of the lesion, stopping the release of the mast cell’s proteins and chemicals, ultimately preventing it [aocd.org]

Mast cell degranulation must be avoided in extensive cases to prevent possible anaphylaxis. Chemicals that induce mast cell degranulation include alcohol, aspirin, opiates, scopolamine, amphotericin B and tubocurarine, among others. [healio.com]

Follow-up physical examinations and skin evaluations are important in the early diagnosis and prevention of this condition. [mastocytosisaustralasia.com]