Pediatric maculopapular cutaneous mastocytosis: Retrospective review of signs, symptoms, and associated conditions.

BACKGROUND/OBJECTIVES: Though maculopapular cutaneous mastocytosis is the most common form of pediatric mastocytosis, it remains unclear which patients will experience severe symptoms. We sought to better define the presentation and the cutaneous and systemic signs and symptoms in patients with maculopapular cutaneous mastocytosis. METHODS: We analyzed retrospective data on 227 patients diagnosed with maculopapular cutaneous mastocytosis prior to age 15 years from five US clinical sites. We collected data on signs, symptoms, age of onset, and laboratory testing. RESULTS: Median age of onset of maculopapular cutaneous mastocytosis was 3 months, with 94% of patients presenting prior to age 2 (range 0-15 years). Patients presenting before age 2 had significantly lower serum tryptase level (P = .019). Greater number of skin lesions (P = .006), number of reported skin signs and symptoms (P < .001), and higher tryptase levels (P < .001) were associated with more systemic symptoms. CONCLUSION: Children with maculopapular cutaneous mastocytosis, who have greater skin involvement, higher serum tryptase level, and more skin signs and symptoms, are more likely to have systemic symptoms.

¿Dermatopatología alérgica o una enfermedad rara? / Allergic dermatopathology or a rare disease?

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Telangiectasia macularis eruptiva perstans (TMEP): A form of cutaneous mastocytosis with potential systemic involvement.

BACKGROUND: Telangiectasia macularis eruptiva perstans (TMEP) has not been fully characterized. OBJECTIVE: We sought to estimate the frequency and clinical characteristics of TMEP in a cohort of adult patients with cutaneous mastocytosis, and to assess the presence of systemic involvement. METHODS: We included all consecutive patients evaluated for cutaneous mastocytosis in 2 centers: the Mastocytosis Competence Center of the Midi-Pyrénées from May 2006 to December 2013, and the French Reference Center for Mastocytosis from January 2008 to September 2013. Skin phenotype, histopathology, presence of KIT mutation in the skin, and assessment of systemic involvement according to World Health Organization (WHO) criteria were prospectively investigated. RESULTS: Of 243 patients with cutaneous mastocytosis, 34 (14%) were given a diagnosis of TMEP. The diagnosis of systemic mastocytosis was established in 16 patients (47%) with TMEP. Three patients (9%) had aggressive systemic mastocytosis (C-findings according to WHO). In all, 32 patients (94%) exhibited at least 1 mast cell activation-related symptom. LIMITATIONS: Patient recruitment was undertaken at 2 referral centers with expertise in the diagnosis and treatment of mastocytosis so that the clinical findings and incidence of systemic involvement may be overestimated in comparison with the overall population of patients with TMEP. CONCLUSION: TMEP accounts for about 14% of patients with cutaneous mastocytosis. The disease manifests as mast cell activation symptoms in almost all patients and can be associated with systemic involvement in about 50% of cases.

Predictors of new fragility fractures after diagnosis of indolent systemic mastocytosis.

BACKGROUND: Fragility fractures (FFxs) and osteoporosis occur frequently in patients with indolent systemic mastocytosis (ISM), even before 50 years of age. OBJECTIVE: We sought to develop a prediction model to identify individual patients with ISM at risk of new FFxs. METHODS: Data on lifetime fractures and trauma circumstances were collected from vertebral morphometry, patients' records, and questionnaires. Clinical, lifestyle, and bone characteristics were measured. Patients receiving treatment for osteoporosis before ISM diagnosis or with missing bone data were excluded from FFx risk assessment. RESULTS: In total, 389 lifetime fractures occurred in 127 of the 221 patients with ISM (age, 19-77 years), including 90 patients with 264 FFxs. Median follow-up after diagnosis was 5.4 years (range, 0.4-15.3 years), with 5- and 10-year FFx risks of 23% ± 3% and 31% ± 4%, respectively. Male sex, high levels of bone resorption (serum type I collagen C-telopeptide), low hip bone mineral density, absence of urticaria pigmentosa, and alcohol intake at the time of ISM diagnosis were independent predictors of future FFxs. The MastFx score, a prediction model using these 5 characteristics, showed good accuracy (area under the curve, 0.80) to determine the risk of new FFxs. QFracture, a validated risk scoring tool for persons aged 30 to 99 years, was not useful in patients with ISM. CONCLUSION: The MastFx score distinguishes patients with ISM at high, intermediate, and low risk of new FFxs. The included characteristics sex, serum type I collagen C-telopeptide, hip bone mineral density, urticaria pigmentosa, and alcohol intake are easy to collect in clinical practice. The high occurrence of FFxs in patients with ISM underlines the importance of optimizing bone quality and early start of therapeutic prevention in patients at risk.

[Urticaria pigmentosa: a current approach]. / Urticaria pigmentosa: un enfoque actual.

The term urticaria pigmentosa (UP) denotes a heterogeneous group of disorders characterized by abnormal growth and accumulation of mast cells (MC) in the skin. Symptoms result from MC chemical mediator's release, pathologic infiltration of neoplastic MC in tissues or both. Multiple molecular, genetic and chromosomal defects seem contribute to an autonomous growth, but somatic c-kit D816V mutation is more frequently found, especially in systemic disease. The aim of this paper is to provide a current overview for a better understanding of the symptoms associated with this disease, to describe its classification, recent advances in its pathophysiology and its treatment.

Cutaneous mastocytosis in Thai children.

BACKGROUND: Mastocytosis is a disorder of mast cells proliferation within various organs, most commonly in the skin. The disease more commonly appears during infancy than adult. OBJECTIVE: To characterize the clinical features, response to therapy and prognosis of cutaneous mastocytosis in children. MATERIAL AND METHOD: A retrospective study of cutaneous mastocytosis was performed at Queen Sirikit National Institute of Child Health during January 1994 to December 2007.All cases were confirmed by histological diagnosis. RESULTS: There were a total of 50 patients. The male to female ratio was 1:1.2. Age at onset of lesions ranged from birth to 7 years. Forty-seven patients (94%) developed skin lesions within the first year of ife. There were 45 cases (90%) of urticaria pigmentosa, 3 cases (6%) of mastocytoma and 2 cases (4%) of diffuse cutaneous mastocytosis. None of the patient had a family history of cutaneous mastocytosis. Most of the children were healthy, except the one who had germ cell ovarian tumor Skin biopsies were performed in all cases and revealed mast cells infiltrate in the dermis. Treatment included oral antihistamine in all cases. Oral mast cell stabilizers were given in 6 patients (12%) and topical corticosteroids in 15 patients (30%). Four patients (8%) were treated with oral prednisolone. The skin lesions resolved only in 1 patient (2%) at age 7.8 years, the others still had skin lesions without systemic symptoms. CONCLUSION: Cutaneous mastocytosis is a benign disease in children without systemic involvement.

Mastocitosis cutánea / Cutaneous mastocytosis

Definimos mastocitosis como un conjunto de trastornos clínicos, producidos todos ellos por una proliferación de mastocitos y una acumulación en varios órganos, entre los cuales el más común es la piel. La mastocitosis cutánea fue descrita por primera vez por Nettleship y Tay, en 1869, quienes asumieron que la acumulación de mastocitos quedaba limitada únicamente a la piel. Y no es hasta 1949 cuando Ellis describió por primera vez una forma sistémica de mastocitosis. Aproximadamente, un 80% de los pacientes con mastocitosis presenta sólo una afectación cutánea, mientras que el 20% restante tiene una mastocitosis sistémica, y en más de la mitad de éstos aparecen también lesiones cutáneas. El diagnóstico se basa fundamentalmente en los hallazgos clínicos e histológicos. En general, el pronóstico en la edad pediátrica es bueno, con tendencia a la resolución espontánea antes de la pubertad. Aun así, un 15-30% de los niños en quienes la enfermedad persiste durante la edad adulta desarrollará una afectación sistémica

Mastocytosis is a rare disorder, characterized by an abnormal increase and accumulation of mast cells in one or more organ systems, most commonly the skin. Cutaneous mastocytosis was first described by Nettleship and Tay in 1869. It was assumed that the pathological accumulation of mast cells was limited to skin until 1949, when Ellis described a systemic form of mastocytosis for the first time. In approximately 80% of patients with mastocytosis, only the skin is involved. The remaining patients have systemic mastocytosis. More than a half of the patients with systemic mastocytosis have skin lesions as well. The diagnosis is mainly based on the clinical features and the histopathological examination of lesions. The prognosis in childhood is generally good, with a tendency for spontaneous resolution prior to puberty. However, 15% to 30% of the children whose disease persists into adulthood will develop systemic involvement

UVA1 phototherapy for cutaneous diseases: an experience of 92 cases in the United States.

BACKGROUND: The efficacy and safety of UVA1 (340-400 nm) phototherapy were established by studies from European countries. PURPOSE: Evaluate experience with UVA1 phototherapy for patients with cutaneous diseases in the United States. METHODS: A retrospective analysis of 92 cases of UVA1-treated cutaneous conditions from four medical centers in the United States was performed. RESULTS: Two-third of the patients showed a fair to good response (26-100% improvement) and one-third of the patients showed a poor response (0-25% improvement). Diseases with a moderate to good response (51-100% improvement) included scleredema adultorum, hand or foot dermatitis, atopic dermatitis, morphea (medium or medium- to high-dose UVA1), systemic sclerosis, and urticaria pigmentosa. Besides tanning, other adverse effects were found in 15% of patients, which include pruritus, erythema, tenderness, and burning sensation. Patients with skin types I-III responded better that those with a darker skin type. CONCLUSION: UVA1 phototherapy is a useful and well-tolerated treatment option for a variety of skin conditions.

[Cutaneous mastocytosis]. / Mastocytose cutanée.

Cutaneous mastocytosis represent the most frequent form of mastocytosis, rare diseases, defined by an abnormal accumulation and proliferation of mastocytes in one or more organs. Cutaneous mastocytosis more often appear early in childhood and usually resolve spontaneously by the time of puberty. In adult, cutaneous mastocytosis rarely involute and are frequently associated to extracutaneous involvement and so, are in fact systemic mastocytosis. Clinical presentation of cutaneous mastocytosis includes polymorphous cutaneous lesions linked to mastocytes skin infiltration often associated to acute episodes (lesional or systemic flush) due to mast cells degranulation. The cause of mastocytosis is unknown. Several mutations of the c-kit proto-oncogen coding for the transmembrane receptor kit of the stem groth factor, factor of maturation, proliferation and activation of mastocytes, are often observed. Currently, the treatment of cutaneous mastocytosis is mainly symptomatic.

Pediatric cutaneous mastocytosis: a review of 180 patients.

BACKGROUND: Mastocytosis is a heterogeneous group of diseases characterized by the abnormal infiltration of mast cells in the skin and, sometimes, other organs. Some patients may experience symptoms related to mast cell mediator release. OBJECTIVE: To analyze the clinical features of cutaneous mastocytosis in a large series of children. METHODS: We conducted a file review of all children clinically diagnosed with cutaneous mastocytosis in our department over the last 20 years. We evaluated gender, age at onset, character and distribution of the lesions, associated symptoms, and course of the disease. RESULTS: Altogether, 180 patients with cutaneous mastocytosis were identified. The male to female ratio was 1.5:1. About one-third of patients had a mastocytoma, which was present at birth in over 40% and appeared during the first year of life in most of the remainder. Urticaria pigmentosa was noted in 65% of the patients, presenting at birth in 20% and during the first year in most of the remainder. The majority of lesions was distributed over the trunk and limbs. Different kinds of associated symptoms were noted. Prognosis in general was good. Only 11% of the cases, all urticaria pigmentosa, were familial. CONCLUSIONS: Most cases of pediatric mastocytosis are sporadic and appear during the first 2 years of life, especially on the trunk. Urticaria pigmentosa is the most frequent variant. The prognosis of pediatric mastocytosis, in general, is good.

Urticária pigmentosa em lactentes: relato de um caso e revisão da literatura / Urticaria pigmentosa in infants: a case report and revision of literature

Paciente pediátrico, 6 meses, masculino, internado no Hospital Geral em Caxias do Sul. Apresentou lesões hipercrômicas maculopapulares descamativas, vermelho-acastanhadas, intensamente pruriginosas, atingindo grande parte do corpo. Recebeu anti-histamínicos e banhos de água e aveia, enquanto internado. Foi realizada biópsia de pele, que constatou quadro compatível com urticária pigmentosa (UP). A UP é a mais freqüente manifestação de mastocitose, ocorrendo na pele e caracterizando-se por lesões cutâneas com pigmentação persistente e pruriginosa. A mastocitose é caracterizada por um acúmulo local ou sistêmico de mastócitos, sendo que os sintomas, dentre os quais o principal é o prurido, resultam da liberação maciça de histamina e outros mediadores pelos mastócitos. O diagnóstico é baseado basicamente na história e apresentação clínica, com confirmação de envolvimento cutâneo por biópsia. Ainda não há tratamento definitivo e eficaz, e somente alívio sintomático pode ser atingido (AU)

Pediatric patient, 6 months old, male, admitted to General Hospital in Caxias do Sul. The patient displays hyperchromic maculopapular peeling lesions, reddish-brown, with intense itching extending over the majority of the body. The patient received anti-histamines and oat water baths while at the hospital. The results of a skin biopsy were indicative of urticaria pigmentosa (UP). UP is the most common manifestation of mastocytosis, occurring in the skin and characterized by cutaneous lesions with persistent and itching spots. Mastocytosis is characterized by a local or systemic accumulation of mast cells, accompanied by symptoms, among which the primary one is itching, resulting from the massive release of histamine and other mediators by the mast cells. Diagnosis is based basically on clinical history and examination, confirmed by cutaneous biopsy. There is still no satisfactory and efficient treatment, and only the symptoms can be alleviated (AU)

Cutaneous mastocytosis in children: a clinical analysis of 71 cases.

OBJECTIVE: To characterize the clinical features, response to therapy, evolution and prognosis of cutaneous mastocytosis in children. BACKGROUND: Mastocytosis in children, instead of being induced by a potentially oncogenic c-kit mutation, is probably a clonal disease with benign prognosis. METHODS: The clinicopathological features, evolution and response to treatment were analysed in 71 children with mastocytosis. RESULTS: There were 53 (75%) cases of urticaria pigmentosa, 12 (17%) cases of mastocytoma, and six (8%) cases of diffuse cutaneous mastocytosis. In 92% of cases disease onset was in the first year of life. There was a male predominance 1.8 : 1. Treatment did not modify the disease evolution. Eighty per cent of patients improved or had spontaneous resolution of the disease. CONCLUSION: The most frequent clinical form of mastocytosis was urticaria pigmentosa followed by mastocytoma and diffuse cutaneous mastocytosis. Darier's sign was present in 94% of cases. A negative Darier's sign does not rule out mastocytosis. In contrast to adults, mastocytosis in children usually has a benign course making sophisticated or invasive diagnostic tests unnecessary. A classification of paediatric cutaneous mastocytosis is proposed.

A study on cercarial dermatitis in Khuzestan province, south western Iran.

BACKGROUND: Cercarial dermatitis' or swimmer's itch' is an itchy inflammatory response to the penetration of the skin by non-human schistosome parasites. In the hot season, (May to September) in Khuzestan province in the south west of Iran, swimming in canals and agriculture activities in swampy areas are common. This survey was made on people from villages north of Ahwaz city in south west Iran, to estimate cercarial dermatitis in this region. METHODS: 2000 people were observed for clinical signs of cercarial dermatitis. Also 2000 Lymnaea gedrosiana snails were collected from agriculture canals and examined for animal schistosome cercariae during 1998-2000. RESULTS: From this survey 1.1% of people had pruritic maculopapular rash on their feet, hands or other parts of body. From the total of examined snails, 2.4% were found to be infected with bird schistosome cercariae including Trichobilharzia species. CONCLUSION: Cercarial dermatitis could be a health problem in this area. This is the first report of cercarial dermatitis from this region of Iran.

Diagnosis of mastocytosis: value of cytochemistry and immunohistochemistry.

The diagnosis of mastocytosis or mast cell disease may be difficult sometimes because of the wide variety of clinical presentation, abnormal morphology of mast cells, and variation in histologic features which may mimic varieties of other diseases. Over the years, several cell type specific cytochemical and immunochemical markers have been used for the identification of hematopoietic cells in order to establish the accurate diagnosis of mastocytosis and their associated hematologic diseases. Cytochemical stain for aminocaproate esterase is the most specific enzyme marker for identification of mast cells on cytologic specimens and the immunohistochemical stain for tryptase and/or c-kit has also been established as a sensitive and specific marker for mast cells in paraffin sections.

Pediatric mastocytosis.

Pediatric mastocytosis presents with heterogeneous cutaneous lesions and symptoms that are caused by increased numbers of tissue mast cells. In contrast with adult patients with mastocytosis, the course of pediatric patients is usually transient. Therefore, it has long been speculated that pediatric and adult mastocytosis may be based on different pathogenetic mechanisms. Indeed, new genetic findings now indicate differences in the pathogenesis. Adult patients usually express activating mutations of the growth factor receptor c-kit. Most children lack these mutations but sometimes carry other inactivating mutations of c-kit. Only children with progressive mastocytosis seem to express the activating mutations seen in adults. Causal treatment is not yet available, but H1 and H2 antihistamines may provide relief of symptoms. It is important to counsel patients and their parents carefully to avoid triggers that induce systemic mast cell degranulation.

The spectrum of mastocytosis.

Mastocytosis represents a spectrum of clinical disorders that results from an aberrant proliferation of tissue mast cells. This disease process may be confined to the skin (cutaneous mastocytosis) or may involve multiple organs (systemic mastocytosis). Parameters that are useful in differentiating cutaneous from systemic disorders include patient age, symptom complex, and clinical signs. A wide range of clinical symptoms may be encountered in patients with mastocytosis which result from the release of pharmacologically potent mast cell mediators. Distinct cutaneous patterns resulting from skin mast cell infiltrates can be helpful in identifying patients with systemic involvement. The diagnosis of mastocytosis is confirmed by demonstrating increased tissue mast cells in involved organs. The overall prognosis for patients with proliferative mast cell disease is relatively good, although a small percentage are at risk for developing a fatal neoplastic disorder (malignant mastocytosis). Treatment of mastocytosis is directed at both inhibiting mast cell degranulation and blocking the potential systemic effects of released secretory products. Future therapeutic advances depend upon an improved understanding of the basic mechanisms involved in mast cell mediator release and the forces that govern mast cell growth and development.