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: 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.

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.

[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.

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.

[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.

Multiple hyperpigmented papules and plaques.

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

[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.

[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.

Variceal bleeding, hypersplenism, and systemic mastocytosis. Pathophysiology and management.

Systemic mastocytosis is characterized by an abnormal proliferation of tissue mast cells. Though rarely a surgical disease, it occasionally presents as variceal bleeding secondary to portal hypertension. Ultrastructural studies of the liver and spleen and portal pressure measurements support the hypothesis that a perisinusoidal intrahepatic fibrosis is responsible for the increased portal pressure. When variceal bleeding complicates systemic mastocytosis, shunt surgery is indicated, with the type of shunt dictated by both hematologic and hemodynamic issues. Satisfactory blockade of histamine release can be achieved preoperatively by disodium cromoglycate and/or histamine antagonists to obviate any systemic effects precipitated by shunting of mast cell-rich splenic blood into the systemic circulation.

Phototherapy of urticaria pigmentosa: clinical response and changes of cutaneous reactivity, histamine and chemotactic leukotrienes.

Ten patients with moderate to very severe urticaria pigmentosa were studied for the therapeutic effect of photochemotherapy (PUVA; six adults) and selective ultraviolet phototherapy (SUP; four adolescents). Despite a high mean PUVA dosage (138.6 +/- 63.4 J/cm2), only two patients had a very good response, while three had a good response and one had a fair response. On the reduction of the frequency of treatments, the symptoms gradually recurred, and several months after the discontinuation of therapy, the clinical status had reached the level prior to PUVA. The results with SUP were even less encouraging. A number of biophysical and biochemical parameters of the skin were studied in five patients before PUVA treatment, immediately after several months of PUVA treatment and again 5 months after the discontinuation of PUVA treatment. Weal and erythema reactions to intracutaneous skin tests remained unchanged after PUVA, while wealing with topically applied dimethylsulfoxide (DMSO) decreased. Transepidermal water loss was markedly reduced over DMSO weals. Histamine levels, which were elevated in lesional but not in normal skin, dropped with PUVA treatment, but after the discontinuation of treatment, they increased again in the lesions. On reverse-phase high-performance liquid chromatography, two main chemotactic factors, leukotriene B4 and 5-HETE, were identified in lesional skin. Chemotactic activity was elevated in both lesional and uninvolved patient skin, reached normal levels at both sites after PUVA and maintained these low levels for several months after the discontinuation of treatment.(ABSTRACT TRUNCATED AT 250 WORDS)

Biology, classification and treatment of human mastocytosis.

Mastocytosis is a term collectively used for a heterogeneous group of disorders characterized by abnormal growth and accumulation of mast cells. Clinical symptoms occur from the release of chemical mediators and the pathologic infiltration of cells. Three major groups of patients with mastocytosis can be distinguished: i) cutaneous mastocytosis, ii) mastocytosis involving the skin and one or more extracutaneous organ(s), and iii) visceral mastocytosis without involvement of the skin. Groups ii) and iii) account for approximately 15-20% of all cases and have been referred to as systemic mastocytosis. Cutaneous mastocytosis typically presents as urticaria pigmentosa or diffuse cutaneous mastocytosis. These patients usually have a benign course. In contrast, systemic mastocytosis is a diffuse hematologic process with an increased risk to develop aggressive disease. In these patients, additional hematologic abnormalities or a second hematologic process, such as a myeloproliferative or myelodysplastic syndrome, or acute leukemia, may develop. Malignant mastocytosis and mast cell leukemia are rare forms of mastocytosis and characterized by uncontrolled and progressive proliferation and infiltration of mast cells in diverse organs. These patients often present without cutaneous lesions and have a very unfavorable prognosis. Because of the immature morphology of the cells it is often difficult to establish the diagnosis in such patients. However, the use of antibodies to mast cell antigens has recently improved the diagnostic efficiency in patients with suspected mast cell disease. No effective therapy for patients with malignant mastocytosis is known, although some patients may benefit from corticosteroid and interferon alpha treatment. The present article gives an overview of current knowledge about the biology, heterogeneity and treatment of human mastocytosis.

[Classification and management of mastocytosis in the child]. / Classification et prise en charge des mastocytoses de l'enfant.

OBJECTIVE: Mastocytosis is a frequently observed condition in children. We analyzed the initial manifestations and clinical course. PATIENTS AND METHODS: We restrospectively studied 49 cases of mastocytosis in children (29 boys and 20 girls) managed in our unit between 1985 and 1995. All of the children had typical manifestations. Photographic documents were available in all cases. RESULTS: There was pigmentary urticaria in 32 cases and a mastocytoma in 17. Axanthelasmoid aspect and bullae were observed in some cases in both of these clinical forms. Complementary explorations demonstrated one case of duodenal mast cell infiltration. Excepting the case with skin and duodenal manifestation, all of our patients improved and clinical cure was obtained during growth. DISCUSSION: The association of dermal atopia and mastocytosis does not influence the clinical course of these two conditions. The development of bullae does not appear to be a factor of poor prognosis. The xanthelasmoid aspect of the lesions and the similar course in childhood mastocytosis and juvenile xanthogranulma would suggest that a common process with a histological spectrum including mastocytoma and xanthoma is involved. In our experience, counselling against the use of anti-cough medicines containing codeine is an essential part of management. Antihistamine agents may be prescribed for pruritus.

[Mastocytosis--two diseases with different physiopathology]. / Mastocytos--två sjukdomar med olika patofysiologi.

Mastocytosis means proliferation and accumulation of mast cells in skin and internal organs. Bone marrow cytogenetic abnormalities are similar to those found in myeloproliferative diseases. Recent findings indicate different pathogenetic forms of mastocytosis. Thus, adult patients with associated hematological diseases express mutation of the gene for the thyrosine kinase receptor, while childhood cases lack this mutation. In adults the skin and bone marrow are the most commonly affected organs but involvement of the skeleton and gastrointestinal tract also occur. Hematological malignancy is a rare but well-recognized complication. Childhood onset mastocytosis in the skin regresses spontaneously, whereas virtually all of the adult-onset cases persist.

[Cutaneous mastocytosis with bullous changes simulating xanthoma tuberosum]. / Mastocytoza skórna ze zmianami guzowatymi imitujacymi xanthoma tuberosum.

A 20-year-old female patient is reported with urticaria pigmentosa and coexisting nodules (mastocytoma) resembling clinically lesions of the type of xanthoma tuberosum. An analysis of microscopic image and ultrastructural changes was carried out and modern views on treatment of cutaneous mastocytosis are discussed.

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.

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.