Gene/Protein Disease Symptom Drug Enzyme Compound
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Query: UMLS:C0033774 (pruritus)
 14,546 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

We present the case of a 58-year-old woman who was diagnosed as having telangiectasia macularis eruptiva perstans (TMEP) and was successfully treated with PUVA photochemotherapy. During the 6-month follow-up, no recurrence of pruritus or skin lesions was observed. TMEP represents a rare form of cutaneous mastocytosis, which is clinically characterized by reddish-brown telangiectatic macules symmetrically distributed over the trunk and extremities. Although in the majority of cases the disease is limited to the skin, systemic involvement may occur. The treatment of TMEP is challenging and several therapeutic modalities have been proposed in the past.
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PMID:Telangiectasia macularis eruptive perstans successfully treated with PUVA therapy. 2007 Aug 40

Cutaneous mastocytosis is characterized by increased numbers of skin mast cells that release mediators causing pruritus, urticaria, and flushing. Most pediatric mastocytosis patients exhibit the pattern of urticaria pigmentosa, which typically appears during the first two years of life and resolves spontaneously in late adolescence. However, while the disease is active, patients are frequently symptomatic and uncomfortable, which justifies symptomatic treatment. We report 2 patients, a 14-month-old girl and a 26-month-old boy, with localized cutaneous erythematous lesions with a positive Darier sign. In each, a punch biopsy confirmed the diagnosis of mastocytosis. Treatment was instituted with pimecrolimus cream twice a day and oral antihistamine. An almost complete response was achieved after 4 months of therapy in both patients, with no clinical evidence of recurrence after 4 years and 2 years of follow-up, respectively. In children, the treatment of mastocytosis is directed primarily to avoiding potential mast cell degranulating agents and alleviating symptoms. Topical calcineurin inhibitors act by inhibiting T-cell activation and cytokine release; they may suppress mast cell- mediated reactions by reducing their degranulation. These two cases suggest that in localized cutaneous mastocytosis they are a safe and efficacious alternative to topical steroid therapy.
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PMID:Cutaneous mastocytosis: Two pediatric cases treated with topical pimecrolimus. 2049 25

Mastocytosis (MC) encompasses a range of disorders characterized by a clonal, pathological accumulation of mast cells having a somatic activating mutation of the tyrosine kinase receptor Kit (exon 17, codon 816; D816V) in more than 90 % of adult patients. The mutation is much less common in children. Skin and bone marrow are most often affected. Symptoms and clinical course are very heterogeneous due to a variable degree of local or systemic mediator release or organ dysfunction as a result of mast cell infiltrates. Pruritus, wheals, flushing and gastrointestinal symptoms are often reported. The majority of pediatric patients experience spontaneous remission of MC. Adults usually have chronic disease, rarely transforming into an aggressive or lethal type. Indolent systemic MC with involvement of skin and bone is the most common type. In MC the risk for anaphylactic reactions following an insect sting (and other causes of mast cell activation) is increased significantly. Diagnostic hallmarks are biopsies from skin and bone marrow using tryptase antibodies for staining as well as serum tryptase levels. At present a curative treatment for MC is not available. Systemic histamine H(1) receptor antagonists are widely used. Aggressive types of MC respond partially to IFN-alpha or cladribine. A variety of receptor tyrosine kinase inhibitors is still under critical evaluation for systemic treatment of MC. After introduction of the WHO classification for MC and the development a German MC guideline, as well as the foundation of national and international competence networks for MC, a significantly improved quality of medical care for MC patients can be expected for the future.
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PMID:Mastocytosis - an update. 2067 51

Treatment options for patients suffering from indolent forms of mastocytosis remain inadequate with the hyperactivation of mast cells responsible for many of the disease's systemic manifestations. Masitinib is a potent and highly selective oral tyrosine kinase inhibitor. A combined inhibition of c-Kit and Lyn make it particularly efficient in controlling the activity of mast cells and therefore, of potential therapeutic benefit in mastocytosis. Masitinib was administered to 25 patients diagnosed as having systemic or cutaneous mastocytosis with related handicap (i.e., disabilities associated with flushes, depression, pruritus and quality-of-life) at the initial dose levels of 3 or 6 mg/kg/day over 12 weeks. In accordance with the AFIRMM study, response was based upon change of clinical symptoms associated with patient handicap at week 12 relative to baseline, regardless of disease subtype. Improvement was observed in all primary endpoints at week 12 including a reduction of flushes, Hamilton rating, and pruritus as compared with baseline by 64% (P = 0.0005), 43% (P = 0.0049), and 36% (P = 0.0077), respectively. An overall clinical response was observed in 14/25 patients (56%; [95%CI = 37%-75%]), with sustainable improvement observed throughout an extension phase (>60 weeks). Common adverse events were edema (44%), nausea (44%), muscle spasms (28%), and rash (28%), the majority of which were of mild or moderate severity with a significant decline in frequency observed after 12 weeks of treatment. One patient experienced a serious adverse event of reversible agranulocytosis. Masitinib is a promising treatment for indolent forms of mastocytosis with handicap and indicates acceptable tolerability for long-term treatment regimens.
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PMID:Masitinib for the treatment of systemic and cutaneous mastocytosis with handicap: a phase 2a study. 2110 25

Cutaneous mastocytosis in children is a generally benign disease that can present at birth and is often associated with mast cell mediator-related symptoms including pruritus, flushing, and abdominal pain with diarrhea. The most common form of presentation is urticaria pigmentosa, also referred to as maculopapular mastocytosis. Flares of lesions are induced by triggers such as physical stimuli, changes in temperature, anxiety, medications, and exercise. The skin lesions are typically present on the extremities. Symptoms respond to topical and systemic anti-mediator therapy including antihistamines and cromolyn sodium. Remission at puberty is seen in a majority of cases. Progression to systemic mastocytosis with involvement of extracutaneous organs is not common. The cause of cutaneous mastocytosis is unknown and familial cases are rare. Mutations of c-kit have been observed in the skin of those affected. The diagnosis is established on clinical grounds and the findings on skin biopsy. Bone marrow studies are recommended if there is suspicion of progression of disease to an adult form, if cytoreductive therapy is contemplated, or if skin lesions remain present and/or tryptase levels remain elevated after puberty. The use of chemotherapy, including kinase inhibitors, is strongly discouraged unless severe hematologic disease is present, since malignant evolution is extremely rare.
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PMID:Diagnosis and treatment of cutaneous mastocytosis in children: practical recommendations. 2166 33

A 10-month-old boy presented with a history of a generalized cutaneous bullous eruption since 3 months of age. Emesis, flush, pruritus, and fatigue had accompanied relapsing episodes of sometimes extensive blistering. Histopathology showed dense dermal infiltrates of mast cells on hematoxylin and eosin and corroborating immunohistochemical staining. Laboratory examination revealed a markedly high level of serum tryptase. Based on these results and after consecutive staging, the patient was diagnosed with diffuse cutaneous bullous mastocytosis (BM). Mutation analysis detected a deletion mutation (del419) in C-Kit by direct exon sequencing. This rare entity must be considered in the differential diagnosis whenever a child presents with bullae and erosions. A crucial diagnostic hint is that rubbing of affected skin areas results in whealing (Darier's sign). A comprehensive diagnostic approach, advanced therapeutic strategies, regular follow-ups, and instruction of patients and relatives on prevention and prophylaxis are highly indicated.
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PMID:Diffuse cutaneous mastocytosis masquerading as epidermolysis bullosa. 2185 15

An unusual disease, mastocytosis challenges the pathologist with a variety of morphologic appearances and heterogeneous clinical presentations ranging from skin manifestations (pruritus, urticaria, dermatographism) to systemic signs and symptoms indicative of mast cell mediator release, including flushing, hypotension, headache, and anaphylaxis among others. In this article, we focus on recognizing the cytology, histopathology, clinical features, and prognostic implications of systemic mastocytosis, a clonal and neoplastic mast cell proliferation infiltrating extracutaneous organ(s) with or without skin involvement. Diagnostic pitfalls are reviewed with ancillary studies to help unmask the mast cell and exclude morphologic mimics.
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PMID:Systemic mastocytosis. 2205 35

A few case reports have only been published to date, which show the possible link between mastocytosis and gastroesophageal reflux disease (GERD). Here, we present a 17-month-old boy with urticaria pigmentosa who also suffered from GERD. First skin lesions accompanied by gastrointestinal symptoms (regurgitations, appetite worsening) were noticed at the age of four months. At that time, they were misdiagnosed as symptoms of cow's milk allergy. Despite the cow's milk-free diet, the skin and gastrointestinal symptoms slowly worsened and the patient was referred to us for further diagnostics several months later. Based on the clinical presentation of skin lesions, presence of pruritus and positive Darier's sign, cutaneous mastocytosis was diagnosed; 24-hour pH-metry revealed an increased number of acidic refluxes and biopsy of duodenal mucosa showed numerous mast cells. Taking into account these findings, the gastrointestinal symptoms were supposed to be a manifestation of mastocytosis. Treatment with sodium cromoglycate, cetirizine, ranitidine and probiotics resulted in pruritus alleviation, improvement of appetite and sleeping as well as increase of body weight.
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PMID:Gastroesophageal reflux disease accompanying urticaria pigmentosa. 2218 27

Diffuse cutaneous mastocytosis (DCM) is a rare, severe, variant of cutaneous mastocytosis. The authors report the case of a male infant who developed maculae and maculopapulae on his legs and abdomen when aged 3.5 months, which spread to all body surfaces within weeks. Diagnosis of DCM was made at the age of 6 months when he had developed extensive bullous eruptions, generalised pruritus, flushing and abdominal pain. Treatment was started with oral dimethindine maleate. At the age of 18 months, oral sodium cromoglicate (SCG) was introduced. At the age of 23 months, additional treatment was started with a cutaneous emulsion containing 4% SCG. Continued treatment with oral dimethindine maleate, oral SCG with the dose maintained at 25 mg/kg/day, and SCG 4% cutaneous emulsion applied two to four times daily has resulted in a steady improvement of symptoms and skin appearance.
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PMID:Oral and topical sodium cromoglicate in the treatment of diffuse cutaneous mastocytosis in an infant. 2269 87

Idiopathic anaphylaxis (IA) is defined as anaphylaxis without any identifiable precipitating agent or event. The clinical manifestations of IA are the same as allergen-associated (immunologic) anaphylaxis and include urticaria, angioedema, hypotension, tachycardia, wheezing, stridor, pruritus, nausea, vomiting, flushing, diarrhea, dysphagia, light-headedness, and loss of consciousness. Patients usually tend to have the same manifestations on repeated episodes. IA is a prednisone-responsive disease that is ultimately a diagnosis of exclusion. Approximately 40% of patients are atopic. Serum tryptase (or urine histamine or its metabolite) will be elevated acutely but if elevated in the absence of anaphylaxis, should suggest alternative diagnoses including indolent systemic mastocytosis. A focused history, examination, and follow-up will dictate whether a patient's symptoms may be attributable to disorders that mimic anaphylaxis, such as indolent systemic mastocytosis, carcinoid syndrome, pheochromocytoma, hereditary angioedema acquired C1 esterase inhibitor deficiency, or panic attacks. The presence of urticaria may help limit the differential because they do not usually accompany any of the aforementioned disorders, except for indolent systemic mastocytosis. IA is classified according to the symptoms as well as the frequency of attacks. Patients who experience six or more episodes in a year or two or more episodes in 2 months are classified as IA-frequent (IA-F). Patients who experience fewer episodes are classified as IA-infrequent (IA-I). This distinction is important because IA-F patients initially will require prednisone as disease-modifying therapy whereas most IA-I patients will not. Patients with IA must carry and know when and how to self-administer epinephrine.
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PMID:Chapter 25: Idiopathic anaphylaxis. 2279 98


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