A Rash Hypothesis

Liu, Anne Y.; Lowe, Robert; Levy, Bruce D.; Katz, Joel T.; Loscalzo, Joseph

doi:10.1056/nejmcps0708369

Cited by 5 publications

(4 citation statements)

References 18 publications

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“…Mastocytosis encompasses a wide spectrum of disease processes ranging from purely cutaneous to indolent or aggressive systemic disease to malignancy or hematological disease. 15 More than 1 out of 4 adult patients with systemic disease also have cutaneous findings, therefore, recognizing the cutaneous manifestations of mastocytosis is an essential skill for clinicians. 11 , 16 Systemic mastocytosis is diagnosed according to major and minor criteria.…”

Section: Discussionmentioning

confidence: 99%

“…Tryptase, the main protein component of the secretory granules found within mast cells, is a good indicator of total mast cell burden. 15 In general, most patients with pure CM exhibit normal serum tryptase levels. Tryptase levels >20 µg/L are typically seen with SM.…”

Section: Discussionmentioning

confidence: 99%

“…The metabolite of histamine, N-methylhistamine, is a more sensitive test and should be used when possible. 15 …”

Section: Discussionmentioning

confidence: 99%

“…This mutation does not differentiate cutaneous and extracutaneous involvement but is found in nearly all adult cases of systemic mastocytosis. 10 , 15 Many promising drugs that specifically target mast cells and the c-kit receptor are currently under investigation, including PKC412, AMN107 and dasatinib. 20 A less common mutation located in the Fip1-like 1 gene (FIP1L1) is routinely tested for in patients with SM because it is a good indicator of response to treatment with the targeted tyrosine kinase inhibitor Imatinib.…”

Section: Discussionmentioning

confidence: 99%

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Telangiectasia Macularis Eruptiva Perstans: more than skin deep

Watkins

Bokor²,

Leicht³

et al. 2011

Dermatol Reports

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Systemic mastocytosis is a rare disease involving the infiltration and accumulation of active mast cells within any organ system. By far, the most common organ affected is the skin. Cutaneous manifestations of mastocytosis, including Urticaria Pigmentosa (UP), cutaneous mastocytoma or telangiectasia macularis eruptive perstans (TMEP), may indicate a more serious and potentially life-threatening underlying disease. The presence of either UP or TMEP in a patient with anaphylactic symptoms should suggest the likelihood of systemic mastocytosis, with the caveat that systemic complications are more likely to occur in patients with UP. TMEP can usually be identified by the typical morphology, but a skin biopsy is confirmative. In patients with elevated tryptase levels or those with frequent systemic manifestations, a bone marrow biopsy is essential in order to demonstrate mast cell infiltration. Further genetic testing for mutations of c-kit gene or the FIP1L1 gene may help with disease classification and/or therapeutic approaches. Rarely, TMEP has been described with malignancy, radiation therapy, and myeloproliferative disorders. A few familial cases have also been described. In this review, we discuss the clinical features, diagnosis and management of patients with TMEP. We also discuss the possible molecular pathogenesis and the role of genetics in disease classification and treatment.

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Section: Discussionmentioning

confidence: 99%

Section: Discussionmentioning

confidence: 99%

“…The metabolite of histamine, N-methylhistamine, is a more sensitive test and should be used when possible. 15 …”

Section: Discussionmentioning

confidence: 99%

Section: Discussionmentioning

confidence: 99%

See 2 more Smart Citations

Telangiectasia Macularis Eruptiva Perstans: more than skin deep

Watkins

Bokor²,

Leicht³

et al. 2011

Dermatol Reports

View full text Add to dashboard Cite

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Laboratory Diagnosis of Gastrointestinal and Pancreatic Disorders

Salwen¹,

Siddiqi²,

Gress³

et al. 2011

Henry's Clinical Diagnosis and Management by Laboratory Methods

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Endocrinology aspects of other clinical or physiological situations

Brooke¹,

Hirwa²,

Higham³

et al. 2022

Oxford Handbook of Endocrinology &Amp; Diabetes 4e

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This chapter covers endocrine aspects of a variety of conditions and situations. It explains the symptoms and investigations of hypoglycaemia along with its management; mastocytosis, cancer and the associated endocrine sequalae of survivors of childhood cancer, syndromes of ectopic hormone production, and associated disorders. It then covers the effects on endocrinology on liver and renal diseases, and in the critically ill. Differential diagnosis of endocrine disorders is outlined, alongside the effects of stress and exercise on the endocrine system. Finally, alternative therapies are discussed.

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A Rash Hypothesis

Cited by 5 publications

References 18 publications

Telangiectasia Macularis Eruptiva Perstans: more than skin deep

Telangiectasia Macularis Eruptiva Perstans: more than skin deep

Laboratory Diagnosis of Gastrointestinal and Pancreatic Disorders

Endocrinology aspects of other clinical or physiological situations

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