Mastocytosis with Skeletal and Gastrointestinal Involvement in Infancy

Lucaya, Javier; Perez-Candela, Victor; Aso, Celestino; Calvo, José Antonio

doi:10.1148/131.2.363

Cited by 28 publications

(15 citation statements)

References 13 publications

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“…A bone marrow biopsy should be performed in patients with abnormal findings. 29,90 Histopathology of the skin Skin biopsies should be taken with as little tissue trauma as possible, infiltrating the local anaesthetic into the skin circumferentially at a slight distance from the lesions. All special diagnostic procedures should be considered carefully, particularly in children, as skeletal lesions may be transient in some patients and no correlation between skeletal abnormalities and systemic involvement has been found.…”

Section: Diagnosis and Evaluationmentioning

confidence: 99%

Mastocytosis: recent advances in defining the disease

2001

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Mastocytosis is a rare disease characterized by a primary pathological increase in mast cells in different tissues, which may present in a variety of clinical patterns. Major advances have been made in recent years in the understanding of the pathogenesis of mastocytosis. This review is aimed at familiarizing dermatologists with these recent findings, and at exploring their possible implications for the diagnosis and treatment of the condition. The heterogeneous clinical presentation of mastocytosis is detailed with respect to the type of skin lesions, age at onset, family history, organ systems involved, associated haematological disorders and prognosis. Recent genetic findings also indicate different pathogenetic forms of mastocytosis, as adult patients and those with associated haematological diseases usually express activating mutations of the stem cell factor receptor c-kit, whereas most cases of childhood-onset and familial mastocytosis seem to lack these mutations. Despite the presence of c-kit mutations, patients with cutaneous lesions generally have a good prognosis, even when there is involvement of other organs. Some patients, particularly those with childhood-onset disease, experience spontaneous remission, mostly by puberty. c-kit mutations do not explain the initial cause of mastocytosis, and their prognostic significance is as yet unclarified, as is the pathogenesis in patients without the mutations. Furthermore, these novel findings have as yet not resulted in a more effective treatment of the cause of the disease, so that counselling, prevention of exposure to mast cell secretory stimuli, and symptomatic treatment remain the mainstays of current patient management.

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Section: Diagnosis and Evaluationmentioning

confidence: 99%

Mastocytosis: recent advances in defining the disease

2001

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“…33 34 46 However, gastrointestinal involvement is much less common in children. 47 Gastrointestinal bleeding is a potential complication with severe disease. It is believed to be provoked by high concentrations of circulating plasma histamine, which drives gastric hypersecretion.…”

Section: Extracutaneous Manifestationsmentioning

confidence: 99%

Paediatric mastocytosis

Carter

2002

Archives of Disease in Childhood

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“…3. Despite the malabsorptive state, the small bowel has a normal radiographic appearance except for mild dilatation lesions are present in approximately 10% of cases and have a variable radiographic appearance [6,8]. The latter stages of the disease are characterized by fibrosis of the involved organs [5].…”

Section: Discussionmentioning

confidence: 99%

“…It is thought that the thickened folds are secondary to mast cell proliferation in the lamina propria [5,6]. The typical 2-5-mm nodular defects may be secondary to urticarial changes but this is unproven [1, 5, 6].…”

Section: Discussionmentioning

confidence: 99%

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Bull's-eye lesions: A new gastrointestinal presentation of mastocytosis

Quinn

Shaffer

Willard

et al. 1984

Gastrointest Radiol

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Systemic mastocytosis is a rare disorder that infrequently affects the GI tract. Bowel involvement in mastocytosis is characterized by thickened folds and small mucosal nodules, and there is an increased incidence of peptic ulcer disease and malabsorption. This paper describes a new case of mastocytosis that presented radiographically as 1.0-1.5 cm gastric and duodenal nodules. Some of the duodenal nodules were bull's-eye lesions with central collections of barium. Mastocytosis, along with primary neoplasms, aberrant pancreas, eosinophilic granuloma, and metastases should be included in the differential for bull's-eye lesions of the GI tract.

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Mastocytosis with Skeletal and Gastrointestinal Involvement in Infancy

Cited by 28 publications

References 13 publications

Mastocytosis: recent advances in defining the disease

Mastocytosis: recent advances in defining the disease

Paediatric mastocytosis

Bull's-eye lesions: A new gastrointestinal presentation of mastocytosis

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