Clinical and Demographic Characteristics of Cutaneous Mastocytosis in Childhood: Single-center Experience.

INTRODUCTION: Mastocytosis is a rare and heterogenous disease, and in children it is generally limited to the skin and tends to regress spontaneously in adolescence. AIM: In this study, demographic, clinical, and laboratory characteristics of pediatric patients with mastocytosis, and also coexisting diseases were investigated. RESULTS: A total of 61 pediatric patients were included in the study. The male-to-female ratio was 2.2, the median age was 2 years (range, 0.25 to 19 y), and the median follow-up period was 2.0 years (range, 0.25 to 19 y). Types of clinical presentation at diagnosis consisted of mainly urticaria pigmentosa (45.9%). Seven patients were further investigated with suspicion of systemic mastocytosis, they were followed up, median of 9 years (range, 2.5 to 16 y), and none of them developed systemic disease. Coexisting allergic diseases were recorded in total 5 patients (8.2%). Three patients had immunoglobulin A deficiency, 1 patient had elevated immunoglobulin E level. A patient developed mature B-cell lymphoma with a heterozygous mutation in c-KIT exon 11. DISCUSSION: Cutaneous mastocytosis in children may present as a complex disease with different clinical signs and symptoms. Standardized clinical criteria and guidelines for the follow-up of children with mastocytosis are required.

Cutaneous Mastocytosis in a Pediatric Dental Patient: Multidisciplinary Approach to Oral Management.

Mastocytosis is a heterogeneous disease of bone marrow origin, characterized by local or diffuse increased growth and accumulation of clonal mast cells in the skin and/or in internal organs. The skin is the organ most frequently involved, but others may be affected as well. The purpose of this article is to present the oral management of a child with urticaria pigmentosa/maculopapulous cutaneous mastocytosis requiring dental treatment under general anesthesia. The multidisciplinary team approach involving the relevant medical specialists is discussed to emphasize the significance of coordinated patient management.

Cutaneous mastocytosis: A dermatological perspective.

Mastocytosis is a rare disease characterised by expansion and collection of clonal mast cells in various organs including the skin, bone marrow, spleen, lymph nodes and gastrointestinal tract. The prevalence of mastocytosis has been estimated to be one in 10 000, while the estimated incidence is one per 100 000 people per year. Cutaneous mastocytosis is classified into (i) maculopapular cutaneous mastocytosis, also known as urticaria pigmentosa; (ii) diffuse cutaneous mastocytosis; and (iii) mastocytoma of the skin. In adults, cutaneous lesions are usually associated with indolent systemic mastocytosis and have a chronic evolution. Paediatric patients, on the contrary, have often cutaneous manifestations without systemic involvement and usually experience a spontaneous regression. Diagnosis of cutaneous mastocytosis may be challenging due to the rarity of the disease and the overlap of cutaneous manifestations. This short review describes pathogenesis and clinical aspects of cutaneous mastocytosis with a focus on diagnosis and currently available therapies.

Multiple hyperpigmented papules and plaques.

We had our suspicions as to the diagnosis, but a particular sign was missing. The biopsy settled things.

Longitudinal Study of Pediatric Urticaria Pigmentosa.

BACKGROUND/OBJECTIVES: Urticaria pigmentosa (UP) is the most common form of mastocytosis in children and is associated with systemic signs, symptoms, and triggers. To our knowledge, the effect of UP on children's quality of life has not been studied. The objective of the current study was to characterize the natural history, triggers, and complications of pediatric UP, identify prognostic indicators, and determine its effect on quality of life. METHODS: Between 2002 and 2007, children with three or more mastocytomas diagnosed by a pediatric dermatologist were recruited during visits at the Children's Hospital of Wisconsin Dermatology Clinic (Milwaukee, WI). Research visits were conducted every 3 years and telephone interviews yearly. The Children's Dermatology Life Quality Index was administered to subjects 4 years of age and older at enrollment. Laboratory test results were collected for subjects younger than 4 years at enrollment. Subjects were followed until UP resolution or study end in August 2015. RESULTS: The final cohort size was 43 subjects followed for a median of 8.1 years. Twenty-six subjects were followed through study completion. At age 12 years, 6 patients had disease resolution and 14 remained active. Patients who had disease resolution before age 12 years were more likely to be male and had fewer years of age and smaller lesions, fewer affected areas, and earlier onset. Common medications and anesthetics resulted in no serious reactions. Hymenoptera stings occurred in 51%, with no reports of anaphylaxis. No patient reported a severe effect on quality of life, with most indicating mild to no effect. CONCLUSION: Severe complications are not common with historically identified triggers. Disease does not resolve before adolescence in most children. UP has a minimal effect on quality of life for most children.

[Urticaria pigmentosa: clinical and therapeutic aspects for the paediatrician]. / Urticaria pigmentosa: aspectos clínicos y terapéuticos para el pediatra.

Urticaria pigmentosa, also known as maculopapular mastocytosis, is the most common type of paediatric mastocytosis. It presents with yellow to brown macules or papules, usually located on trunk and extremities. Regarding its diagnostic and therapeutic implications, the objective of this article is to serve as an update for the paediatrician on the most relevant aspects of this pathology.

La urticaria pigmentosa, también conocida como mastocitosis maculopapular, es el tipo de mastocitosis más común en la edad pediátrica. Se presenta con máculas o pápulas de color amarillo-marrón, usualmente localizadas en el tronco y las extremidades. Considerando sus implicancias diagnósticas y terapéuticas, el objetivo de este artículo es brindar al pediatra una actualización de los aspectos más relevantes de esta patología.

Mastocitosis cutánea: reporte de un caso / Cutaneous mastocytosis: A case report

Introducción La mastocitosis representa un grupo de enfermedades caracterizadas por una acumulación excesiva de mastocitos en uno o múltiples tejidos. Puede limitarse a la piel o tener un compromiso sistémico, siendo de baja prevalencia y pronóstico benigno en la infancia. Objetivo Reportar un caso de urticaria pigmentosa como subtipo de mastocitosis cutánea y hacer una revisión bibliográfica enfocada en los hallazgos clínicos, el diagnóstico y el manejo inicial básico. Caso clínico Lactante de 6 meses de edad con múltiples máculas y pápulas de color café claro localizadas en el tronco, los brazos y las piernas, cuadro compatible con una urticaria pigmentosa, confirmada mediante biopsia. Se solicitaron exámenes para descartar compromiso sistémico. La paciente fue tratada con medidas generales, educación y antihistamínicos, con excelente evolución. Conclusiones La mastocitosis cutánea es una enfermedad poco común, de buen pronóstico. En la infancia generalmente bastan las medidas generales y educación para obtener resultados favorables. La terapia farmacológica de primera línea son los antagonistas H1.

Introduction Mastocytosis represents a group of diseases characterised by an excesive accumulation of mastocytes in one or multiple tissues. It can affect only the skin, or have a systemic involvement. It has a low prevalence, and the prognosis is benign in children. Objective To report a case of urticaria pigmentosa as a subtype of cutaneous mastocytosis, and present a literature review focused on clinical findings, diagnosis and initial basic management. Clinical case A child of six months of age presenting with multiple blemishes and light brown papules located on the trunk, arms and legs. The symptoms were compatible with urticaria pigmentosa, and was confirmed by biopsy. Tests to rule out systemic involvement were requested. The patient was treated with general measures, education, and antihistamines, with favourable results. Conclusions Cutaneous mastocytosis is a rare disease with a good prognosis. In childhood general measures and education are usually enough to obtain favourable results. Histamine H1 antagonists are the first line drug treatment.

Actualización en mastocitosis. Parte 2: categorías, pronóstico y tratamiento / Update on Mastocytosis (Part 2): Categories, Prognosis, and Treatment

Las mastocitosis constituyen un grupo heterogéneo de enfermedades caracterizadas por la proliferación clonal de mastocitos en distintos órganos, siendo la localización cutánea la más frecuente. La Organización Mundial de la Salud (OMS) clasifica las mastocitosis cutáneas en mastocitomas, mastocitosis máculo-papulosas y mastocitosis cutánea difusa, mientras que las formas sistémicas incluyen las mastocitosis indolentes, las agresivas, las asociadas a otra hematopatía monoclonal y la leucemia mastocitaria; el sarcoma mastocitario y el mastocitoma extracutáneo son variantes muy poco frecuentes. Aunque la evolución de la enfermedad en los niños es impredecible, con frecuencia las lesiones desaparecen durante la infancia; en los adultos la enfermedad tiende a persistir. El tratamiento se dirige a controlar las manifestaciones clínicas debidas a la acción de los mediadores mastocitarios, mientras que las formas agresivas requerirán de tratamientos dirigidos a reducir la masa mastocitaria

Mastocytosis is a term used to describe a heterogeneous group of disorders characterized by clonal proliferation of mast cells in different organs. The organ most often affected is the skin. The World Health Organization classifies cutaneous mastocytosis into mastocytoma, maculopapular cutaneous mastocytosis, and diffuse mastocytosis. The systemic variants in this classification are as follows: indolent systemic mastocytosis (SM), aggressive SM, SM with an associated clonal hematological non-mast cell lineage disease, mast cell leukemia, mast cell sarcoma, and extracutaneous mastocytoma. The two latest systemic variants are rare. Although the course of disease is unpredictable in children, lesions generally resolve by early adulthood. In adults, however, the disease tends to persist. The goal of treatment should be to control clinical manifestations caused by the release of mast cell mediators and, in more aggressive forms of the disease, to reduce mast cell burd

[Cutaneous mastocytosis: A case report]. / Mastocitosis cutánea: reporte de un caso.

INTRODUCTION: Mastocytosis represents a group of diseases characterised by an excesive accumulation of mastocytes in one or multiple tissues. It can affect only the skin, or have a systemic involvement. It has a low prevalence, and the prognosis is benign in children. OBJECTIVE: To report a case of urticaria pigmentosa as a subtype of cutaneous mastocytosis, and present a literature review focused on clinical findings, diagnosis and initial basic management. CLINICAL CASE: A child of six months of age presenting with multiple blemishes and light brown papules located on the trunk, arms and legs. The symptoms were compatible with urticaria pigmentosa, and was confirmed by biopsy. Tests to rule out systemic involvement were requested. The patient was treated with general measures, education, and antihistamines, with favourable results. CONCLUSIONS: Cutaneous mastocytosis is a rare disease with a good prognosis. In childhood general measures and education are usually enough to obtain favourable results. Histamine H1 antagonists are the first line drug treatment.

Disseminated brown macules in an infant.

Urticaria pigmentosa is the most common form of mastocytosis. Mastocytosis usually presents at birth or early childhood, and may involve only the skin or, less commonly, other internal organs. Diagnosis is clinical, but a skin biopsy may be useful. Prognosis is usually good, and treatment focuses on the avoidance of certain triggers and administration of topical and systemic medications. Appropriate counselling of parents regarding the benign nature of this disease is important as most cases resolve by adolescence.

Treatment regimens, protocols, dosage, and indications for UVA1 phototherapy: facts and controversies.

During the last three decades, ultraviolet A1 (UVA1) phototherapy has emerged as a specific phototherapeutic modality with distinct modes of action and some well established indications. Atopic dermatitis, localized scleroderma, and systemic lupus erythematosus seem to be the conditions with the best evidence regarding efficacy and safety of UVA1 phototherapy. Further indications for UVA1 include subacute prurigo, lichen sclerosus, dyshidrotic dermatitis, cutaneous T cell lymphoma, urticaria pigmentosa, and pityriasis rosea; nevertheless, there are some unknowns, uncertainties, and controversies concerning short- and long-term side effects, efficacy and dosage regimens of UVA1 phototherapy in some conditions. We describe and discuss treatment regimens, protocols, dosage, and indications for UVA1 phototherapy.

Diagnosis and treatment of cutaneous mastocytosis in children: practical recommendations.

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.

[Mastocytosis--diagnostic criteria and treatment]. / Mastocytoza--rozpoznawanie i leczenie.

Mastocytosis is a heterogeneous group of rare diseases characterized by the proliferation and accumulation of mast cells in one or more organs such as the skin, bone marrow, liver, spleen, and lymph nodes. According to the WHO classification, mastocytosis is divided into seven subvariants. The symptoms are associated with mediator release and impaired organ function due to infiltration by neoplastic mast cells. There is a higher risk of anaphylactic shock; therefore education of the patients is very important. Patients may be asymptomatic. Symptomatic treatment is used in cutaneous mastocytosis and in indolent systemic mastocytosis. More aggressive subvariants of mastocytosis are treated with chemotherapy, targeted therapy, and bone marrow transplantation.

Urticaria pigmentosa and mastocytosis: the role of immunophenotyping in diagnosis and determining response to treatment.

Recent advances in our understanding of mast cell biology and disease resulted in identification of important differences in expression of mast cell surface antigens in normal and neoplastic mast cells. Most notably, detection of aberrant expression of CD25 and CD2 on the surface of neoplastic mast cells but not on their normal counterparts leads to the inclusion of this immunophenotypic abnormality in the World Health Organization's diagnostic criteria for systemic mastocytosis. Aberrant mast cell surface marker expression can be detected in the bone marrow aspirate by flow cytometry, even in patients with limited disease that lacks histopathologically detectable aggregates of mast cells in bone marrow biopsy sections. Flow cytometric analysis of bone marrow mast cells is therefore a sensitive method of diagnosis of mast cell disease and is expected to find increasing use in determining response to emerging mast cell cytoreductive therapies.

[Mastocytosis--mastcell proliferative disease risk of anaphylactic reaction]. / Mastocytoza--rozrostowa choroba komórek tucznych zwiazana z ryzykiem reakcji anafilaktycznej.

Mastocytosis is a group of rare diseases characterized by abnormal growth of mast cells in skin, bone marrow, liver, spleen, lymph nodes. Signs and symptoms result mostly from mast cells mediators and mast cells organ infiltration. Pathological examination proving mast cells infiltration is crucial for the diagnosis of disease. Therapy covers patient education and symptomatic treatment (antihistamine drugs and glicocortycoids). Attempts of interferon, cladribine, imatinib treatment are made. Aggressive forms of diseases require, chemiotherapy, bone marrow transplantation. All mastocytosis subjects should be equipped in adrenaline. The paper describes case of 52 years old woman who suffered from urticaria pigmenthosa, anaphylaxis, insect venom and food allergy. Diagnosis included bone marrow examinations (pathology, cytology, genetics, cytofotometry) tryptase level, skin prick tests and sIgE. Mastocytosis was diagnosed. Therapy included symptomatic treatment and immunotherapy. The paper describes also aims of the European Competence Network on Mastocytosis.