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じんましん(蕁麻疹)

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出典(authority):フリー百科事典『ウィキペディア（Wikipedia）』「2015/11/12 11:30:53」(JST)

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Urticaria pigmentosa (also known as "Generalized eruption of cutaneous mastocytosis (childhood type)"^[1]^:616 ) is the most common form of cutaneous mastocytosis. It is a rare disease caused by excessive numbers of mast cells in the skin that produce hives or lesions on the skin when irritated.

Signs and symptoms

Urticaria pigmentosa is characterized by excessive amounts of mast cells in the skin. Red or brown spots are often seen on the skin, typically around the chest and forehead. These mast cells, when irritated (e.g. by rubbing the skin, heat exposure), produce too much histamine, triggering an allergic reaction that leads to hives localized to the area of irritation, sometimes referred to as Darier's sign. Severe itching usually follows, and scratching the area only serves to further symptoms. Symptoms can be mild (flushing and hives that require no treatment), moderate (diarrhea, tachycardia, nausea/vomiting, headache, and fainting), or life-threatening (vascular collapse requiring emergency treatment and hospitalization).

Cause

The majority of urticaria pigmentosa cases are caused by a point mutation at amino acid 816 of the proto-oncogene c-kit.^[2] c-kit is a transmembrane protein which, when bound to Mast Cell Growth Factor (MCGF), signals the cell to divide. Mutations in position 816 of c-kit can result in a constant division signal being sent to the mast cells, resulting in abnormal proliferation. Different mutations have been linked to different onset times of the disease. For example, the Asp816Phe and Asp816Val mutations (the aspartate normally at position 816 in the c-kit protein has been replaced with phenylalanine or valine respectively) have been associated with early manifestation of the disease (mean age of onset: 1.3 and 5.9 months respectively).^[3]^[4]

Irritants

Several factors can worsen the symptoms of urticaria pigmentosa:^{[citation needed]}

Emotional stress
Physical stimuli such as heat, friction, and excessive exercise
Bacterial toxins
Venom
Eye drops containing dextran
NSAIDs
Alcohol
Morphine

The classification of NSAIDs can be disputed. Aspirin, for example, causes the mast cells to degranulate, releasing histamines and causing symptoms to flare. However, daily intake of 81 mg aspirin may keep the mast cells degranulated. Thus, while symptoms may be worsened at first, they can get better as the mast cells are unable to recharge with histamine.

Diagnosis

The disease is most often diagnosed as an infant, when parents take their baby in for what appears to be bug bites. The bug bites are actually the clumps of mast cells. Doctors can confirm the presence of mast cells by rubbing the baby's skin. If hives appear, it most likely signifies the presence of urticaria pigmentosa.

Treatments

There are no permanent cures for urticaria pigmentosa. However, treatments are possible. Most treatments for mastocytosis can be used to treat urticaria pigmentosa. Many common anti-allergy medications are useful because they reduce the mast cell's ability to react to histamine.^[5]

At least one clinical study suggested that nifedipine, a calcium channel blocker used to treat high blood pressure, may reduce mast cell degranulation in patients with urticaria pigmentosa. A 1984 study by Fairly et al. included a patient with symptomatic urticaria pigmentosa who responded to nifedipine at dose of 10 mg po tid.^[6] However, nifedipine has never been approved by the FDA for treatment of urticaria pigmentosa.

Another mast cell stabilizer Gastrocrom, a form of cromoglicic acid has also been used to reduce mast cell degranulation.

Epidemiology

Urticaria pigmentosa is a rare disease, affecting fewer than 200,000 people in the United States.

References

^ James, William; Berger, Timothy; Elston, Dirk (2005). Andrews' Diseases of the Skin: Clinical Dermatology. (10th ed.). Saunders. ISBN 0-7216-2921-0.
^ Akin C (2006). "Molecular Diagnosis of Mast Cell Disorders : A Paper from the 2005 William Beaumont Hospital Symposium on Molecular Pathology". J Mol Diagn 8 (4): 412–9. doi:10.2353/jmoldx.2006.060022. PMC 1867614. PMID 16931579.
^ Yanagihori H, Oyama N, Nakamura K, Kaneko F (2005). "c-kit Mutations in Patients with Childhood-Onset Mastocytosis and Genotype-Phenotype Correlation". J Mol Diagn 7 (2): 252–7. doi:10.1016/S1525-1578(10)60552-1. PMC 1867517. PMID 15858149.
^ Sotlar K, Escribano L, Landt O, et al. (2003). "One-Step Detection of c-kit Point Mutations Using Peptide Nucleic Acid-Mediated Polymerase Chain Reaction Clamping and Hybridization Probes". Am. J. Pathol. 162 (3): 737–46. doi:10.1016/S0002-9440(10)63870-9. PMC 1868096. PMID 12598308.
^ [1]
^ Fairley JA, Pentland AP, Voorhees JJ (1984). "Urticaria pigmentosa responsive to nifedipine". J. Am. Acad. Dermatol. 11 (4 Pt 2): 740–3. doi:10.1016/S0190-9622(84)70233-7. PMID 6491000.

External links

DermAtlas 27

The Mastocytosis Society
Mastokids
The Masto Forum
UK Mastocytosis Support
BC Health Guide
About.com with Pictures
Prevalence of Urticaria Pigmentosa
Alto WA, Clarcq L (June 1999). "Cutaneous and systemic manifestations of mastocytosis". Am Fam Physician 59 (11): 3047–54, 3059–60. PMID 10392589.
The Skin Site

UpToDate Contents

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1. 肥満細胞症（皮膚および全身性）：疫学、病因、および臨床症状 mastocytosis cutaneous and systemic epidemiology pathogenesis and clinical manifestations
2. 皮膚肥満細胞症の治療および予後 treatment and prognosis of cutaneous mastocytosis
3. 肥満細胞症（皮膚および全身性）の評価および診断 evaluation and diagnosis of mastocytosis cutaneous and systemic
4. 全身性肥満細胞症の治療および予後 treatment and prognosis of systemic mastocytosis
5. 肥満細胞活性化障害 mast cell activation disorders

English Journal

Clonal mast cell disorders in patients with severe Hymenoptera venom allergy and normal serum tryptase levels.

Zanotti R1, Lombardo C2, Passalacqua G3, Caimmi C4, Bonifacio M1, De Matteis G5, Perbellini O6, Rossini M7, Schena D8, Busa M9, Marcotulli MC10, Bilò MB11, Franchini M12, Marchi G13, Simioni L14, Bonadonna P15.
The Journal of allergy and clinical immunology.J Allergy Clin Immunol.2015 Jul;136(1):135-9. doi: 10.1016/j.jaci.2014.11.035. Epub 2015 Jan 17.
BACKGROUND: Systemic mastocytosis is a clonal mast cell (MC) disease that can lead to potentially fatal anaphylactic reactions caused by excessive MC mediator release. The prevalence of mastocytosis in patients with Hymenoptera venom allergy is high, and thus the disease should be suspected in patie
PMID 25605272

Assessment of clinical findings, tryptase levels, and bone marrow histopathology in the management of pediatric mastocytosis.

Carter MC1, Clayton ST2, Komarow HD2, Brittain EH3, Scott LM2, Cantave D4, Gaskins DM2, Maric I5, Metcalfe DD2.
The Journal of allergy and clinical immunology.J Allergy Clin Immunol.2015 Jun 1. pii: S0091-6749(15)00586-2. doi: 10.1016/j.jaci.2015.04.024. [Epub ahead of print]
BACKGROUND: The management of children with pediatric mastocytosis poses a challenge. This is because there is limited information as to the application of clinical and laboratory findings and bone marrow histopathology as they relate to medical intervention and communication.OBJECTIVE: We sought to
PMID 26044856

Long-term efficacy and safety of cladribine (2-CdA) in adult patients with mastocytosis.

Barete S1, Lortholary O2, Damaj G3, Hirsch I4, Chandesris MO5, Elie C6, Hamidou M7, Durieu I8, Suarez F5, Grosbois B9, Limal N10, Gyan E11, Larroche C12, Guillet G13, Kahn JE14, Casassus P15, Amazzough K2, Coignard-Biehler H2, Georgin-Lavialle S16, Lhermitte L17, Fraitag S18, Canioni D18, Dubreuil P19, Hermine O20.
Blood.Blood.2015 May 22. pii: blood-2014-12-614743. [Epub ahead of print]
Mastocytosis (M) is a clonal myeloid disabling disorder for which no curative therapy is currently available. Cladribine (2-chlorodeoxyadenosine, 2-CdA) is a synthetic purine analogue cytoreductive treatment, which efficacy is mostly reported in advanced M. Here we report, with a long term follow-up
PMID 26002962

Japanese Journal

乳児に生じた色素性蕁麻疹の2例

今泰子,桑江義介,竹内かおり,春名邦隆,大日方薫,鈴木不二彦,須賀康
日本小児皮膚科学会雑誌 = Journal of pediatric dermatology 30(2), 133-136, 2011-06-30
NAID 10029387172

臨床研究・症例報告肥満細胞症(色素性蕁麻疹)の小児2例

浅井康一,井澤和司,金子栄 [他]
小児科臨床 62(11), 2427-2432, 2009-11
NAID 40016776546

色素性蕁麻疹の猫の1例

毛利崇,高島一昭,山根義久,関口麻衣子,岩崎利郎
動物臨床医学 = Journal of Animal Clinical Research Foundation 15(4), 131-134, 2006-12-20
NAID 10018486664

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★リンクテーブル★

リンク元	「肥満細胞症」「色素性蕁麻疹」「色素性じんま疹」「色素性じん麻疹」

「肥満細胞症」

Urticaria pigmentosa
	The back of a child with uriticaria pigmentosa
Classification and external resources
Specialty	medical genetics
ICD-10	Q82.2
ICD-9-CM	757.33
DiseasesDB	7864
MedlinePlus	001466
MeSH	D014582