Pediatric Mastocytosis: Recognition and Management

Schaffer, Julie V.

doi:10.1007/s40257-020-00581-5

Cited by 20 publications

(52 citation statements)

References 110 publications

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“…Darier’s sign is present in most cases of mastocytosis affecting the skin, although the absence of Darier’s sign does not rule out a diagnosis [ 60 ]. When occurring in childhood, the demonstration of cutaneous mast cell involvement is enough to support a diagnosis of CM without further evaluation; however, mastocytosis of the skin developing in adulthood is often an extension of SM, usually indolent SM, and warrants further diagnostic evaluation with a bone marrow biopsy [ 23 , 24 , 55 , 57 ].…”

Section: Clonal Disorders: Cutaneous Mastocytosismentioning

confidence: 99%

“…Some mast cell disorders are associated with specific genetic mutations with resultant clonal disease ( Table 1 ). Such disorders include cutaneous mastocytosis, systemic mastocytosis (SM), its variants (indolent/ISM, smoldering/SSM, aggressive/ASM), and some forms of the recently described mast cell activation disorders or syndromes (MCAD or MCAS) [ 13 , 14 , 15 , 16 , 17 , 18 , 19 , 20 , 21 , 22 , 23 , 24 ]. The latter include clonal mast cell activations disorders/CMCAS (also referred to as monoclonal mast cell activation syndromes/MMAS), mast cell activation secondary to allergic, inflammatory, or paraneoplastic disease, and idiopathic disorders [ 16 , 22 , 25 , 26 , 27 , 28 ].…”

Section: Introductionmentioning

confidence: 99%

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Mastocytosis and Mast Cell Activation Disorders: Clearing the Air

Jackson

Pratt

Rupprecht

et al. 2021

IJMS

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Mast cells are derived from hematopoietic stem cell precursors and are essential to the genesis and manifestations of the allergic response. Activation of these cells by allergens leads to degranulation and elaboration of inflammatory mediators, responsible for regulating the acute dramatic inflammatory response seen. Mast cells have also been incriminated in such diverse disorders as malignancy, arthritis, coronary artery disease, and osteoporosis. There has been a recent explosion in our understanding of the mast cell and the associated clinical conditions that affect this cell type. Some mast cell disorders are associated with specific genetic mutations (such as the D816V gain-of-function mutation) with resultant clonal disease. Such disorders include cutaneous mastocytosis, systemic mastocytosis (SM), its variants (indolent/ISM, smoldering/SSM, aggressive systemic mastocytosis/ASM) and clonal (or monoclonal) mast cell activation disorders or syndromes (CMCAS/MMAS). Besides clonal mast cell activations disorders/CMCAS (also referred to as monoclonal mast cell activation syndromes/MMAS), mast cell activation can also occur secondary to allergic, inflammatory, or paraneoplastic disease. Some disorders are idiopathic as their molecular pathogenesis and evolution are unclear. A genetic disorder, referred to as hereditary alpha-tryptasemia (HαT) has also been described recently. This condition has been shown to be associated with increased severity of allergic and anaphylactic reactions and may interact variably with primary and secondary mast cell disease, resulting in complex combined disorders. The role of this review is to clarify the classification of mast cell disorders, point to molecular aspects of mast cell signaling, elucidate underlying genetic defects, and provide approaches to targeted therapies that may benefit such patients.

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Section: Clonal Disorders: Cutaneous Mastocytosismentioning

confidence: 99%

Section: Introductionmentioning

confidence: 99%

Mastocytosis and Mast Cell Activation Disorders: Clearing the Air

Jackson

Pratt

Rupprecht

et al. 2021

IJMS

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“…Mastocytosis is a complex disease with a large spectrum of clinical manifestations caused by the proliferation and infiltration of benign mast cells in different tissues. Cutaneous mastocytosis (CM) is a common type of mastocytosis, mostly seen in children, with a broad variety of clinical findings, ranging from more frequent cutaneous maculopapular mastocytosis and mastocytoma to rarer telangiectasia macularis eruptiva perstans and diffuse mastocytosis ( 22 ). The incidence of CM is not precisely known, but in the one and only study available, it was found to be 1 per 500 children presenting to pediatric dermatology clinics ( 23 ).…”

Section: Discussionmentioning

confidence: 99%

“…Prognosis of CM is good, as the disease usually spontaneously resolves by adolescence or adulthood. Treatment with antihistamines and corticosteroids may be necessary for symptom control, and educational information could be useful in limiting Darier's sign elicitation and excessive histamine release ( 22 ).…”

Section: Discussionmentioning

confidence: 99%

Poikiloderma With Neutropenia and Mastocytosis: A Case Report and a Review of Dermatological Signs

et al. 2021

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Poikiloderma with neutropenia (PN) is a very rare genetic disorder mainly characterized by poikiloderma and congenital neutropenia, which explains the recurrence of respiratory infections and risk of developing bronchiectasis. Patients are also prone to develop hematological and skin cancers. Here, we present the case of a patient, the only child of apparently unrelated Serbian parents, affected by PN resulting from the homozygous mutation NM_024598.3:c.243G>A (p.Trp81Ter) of USB1; early onset of poikiloderma (1 year of age) was associated with cutaneous mastocytosis. We also provide a review of the literature on this uncommon condition with a focus on dermatological findings.

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“…They were shown to 10 independent observers (eight dermatologists, one allergist and one haematologist) from Europe and North America with a vast experience in the management of paediatric mastocytosis. The expert observers were selected by their membership in large research groups in mastocytosis and their authorship of scientific studies involving large number of cases of childhood mastocytosis 2,9–13 . The observers were sent a presentation containing at least two pictures of each case, and they blindly filled a table to ascribe each case in the polymorphic or monomorphic variant.…”

Section: Methodsmentioning

confidence: 99%

Interobserver variability in the classification of childhood maculopapular cutaneous mastocytosis

Torrelo

Vergara‐de‐la‐Campa

Defez

et al. 2021

Acad Dermatol Venereol

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Background Maculopapular cutaneous mastocytosis (MPCM) in children is classified in two variants: (i) monomorphic variant, presenting with the small macules or papules typically seen in adult patients; and (ii) polymorphic variant with larger lesions of variable size and shape, typically seen in children. The definition of polymorphic and monomorphic variants is mostly intuitive, and a validation of this classification has not been done. Objective To study interobserver variability in the classification of MPCM in two groups of observers: mastocytosis experts and general dermatologists. Materials and methods Nineteen cases of childhood MPCM were shown blindly, for classification as monomorphic or polymorphic type, to 10 independent observers (eight dermatologists, one allergist and one haematologist) from Europe and North America with a vast experience in the management of paediatric mastocytosis. Also, the same cases were shown on a screen to 129 general dermatologists attending a meeting; their votes were registered by remote controls. The interobserver variability kappa coefficient (with 95% confidence interval) was calculated to measure the reliability of the correlation. Results The value of kappa interobserver variability coefficient for the group of 10 experts (95% confidence interval) was 0.39 (0.18–0.63), which is considered as ‘fair’. The value of kappa interobserver variability coefficient for the group of 129 general dermatologists (95% confidence interval) was 0.17 (0.06–0.39), which is considered as ‘slight’. A complete agreement of all 10 experts was achieved in only four of 19 cases (21.1%) The most voted choice was concordant between the two groups in only 11 of the 19 cases. Conclusions We failed to validate the classification system of childhood MPCM in monomorphic and polymorphic types. While the rate of agreement was low for mastocytosis experts, it was nearly the agreement expected by chance in general dermatologists.

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Pediatric Mastocytosis: Recognition and Management

Cited by 20 publications

References 110 publications

Mastocytosis and Mast Cell Activation Disorders: Clearing the Air

Mastocytosis and Mast Cell Activation Disorders: Clearing the Air

Poikiloderma With Neutropenia and Mastocytosis: A Case Report and a Review of Dermatological Signs

Interobserver variability in the classification of childhood maculopapular cutaneous mastocytosis

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