Therapeutic challenge during the long-term follow-up of a patient with indolent systemic mastocytosis with extensive cutaneous involvement.

From a dermatological aspect, it posed a considerable challenge the skin-limited form of mastocytosis, urticaria pigmentosa and indolent systemic mastocytosis (ISM) with cutaneous lesions. Despite the favourable prognosis, lifelong dermatological control is needed, during which the average symptomatic therapy does not always seem adequate. We report here the case of a female ISM patient with recurrent cutaneous symptoms that impaired her quality of life, with a follow-up time of 27 years. During this long follow-up period, the cutaneous lesions could be controlled by antihistamines, leukotriene antagonists, glucocorticoids, local immunosuppressants or local UV radiation for only relatively short periods. Imatinib mesylate was, therefore, introduced in an attempt to control the cutaneous lesions. Tyrosine kinase inhibition is an unusual dermatological therapeutic option. This case illustrates that imatinib mesylate was a good choice with which to achieve a reduction of the skin lesions in this KIT D816V mutation-negative disease: it led to a temporary appreciable improvement of the patient's quality of life.

Urticaria pigmentosa-like disease in a dog.

Urticaria pigmentosa is a rare dermatologic syndrome in humans, cats, and dogs. This report documents a case of canine urticaria pigmentosa-like disease with unusual features and no C-kit mutation.

Maladie s'apparentant à l'urticaire pigmentaire chez un chien. L'urticaire pigmentaire est un syndrome dermatologique rare chez les humains, les chats et les chiens. Ce rapport documente un cas canin s'apparentant à l'urticaire pigmentaire comportant des caractéristiques inhabituelles et l'absence de mutation C-kit.(Traduit par Isabelle Vallières).

Sustained improvement in urticaria pigmentosa and pruritus in a case of indolent systemic mastocytosis treated with cladribine.

Systemic mastocytosis (SM) is a myeloproliferative disorder, characterized by a clonal proliferation of abnormal mast cells accumulating in internal organs and sometimes in the skin, leading to cutaneous and systemic symptoms. Mutations within the gene KIT, which encodes the receptor tyrosine kinase (KIT) on mast cells, is found in most patients with SM. We report a case of a 62-year-old woman presenting with a pruritic rash on her limbs and trunk. Several years later she developed gastrointestinal symptoms, associated with raised serum tryptase. Skin and bone marrow biopsies confirmed a diagnosis of SM, initially presenting with urticaria pigmentosa. Responses to multiple therapies, including potent topical steroids, oral antihistamines, phototherapy and the tyrosine kinase inhibitor, nilotinib, were inadequate. Treatment with cladribine (2-chlorodeoxyadenosine) produced a marked and sustained reduction in her symptoms and serum tryptase level.

Cutaneous mastocytosis: a case of bullous urticaria pigmentosa.

Mastocytosis is characterized by an increased number of mast cells with abnormal growth and accumulation in 1 or more organs. In children, mastocytosis is commonly cutaneous and patients present with a spectrum of findings, ranging from solitary or multiple mastocytomas to urticaria pigmentosa (UP) or diffuse cutaneous mastocytosis (CM). We present a case of a 4-month-old infant with bullous UP.

Miltefosine: a novel treatment option for mast cell-mediated diseases.

Mast cell-mediated diseases such as urticaria, mastocytosis and atopic dermatitis are common, disabling and hard to treat. Recently, the lipid raft modulator miltefosine has been shown to inhibit mast cell activation in vitro and in vivo. Moreover, three randomized and placebo-controlled trials have assessed the effects of miltefosine in mast cell-driven conditions. Here, we review the experimental and clinical evidence in support of miltefosine as a novel treatment option for mast cell-mediated diseases and we discuss the most imminent questions and issues that need to be addressed by future research and clinical trials.

Cutaneous mastocytosis extending beyond a radiotherapy site: a form of radiodermatitis or a neoplastic phenomenon?

Ionising radiation is often used as an adjuvant in the management of breast cancer. Acute and chronic skin changes are well recognised complications associated with its use. We demonstrate a rare clinical presentation of cutaneous mastocytosis that occurred at the site of radiotherapy and then extended beyond this boundary, and ask whether this can be treated as a localised side effect of radiotherapy or whether the potential for systemic mastocytosis needs to be excluded.

Cutaneous mastocytosis associated with congenital alopecia.

Mastocytosis is a rare disorder that shows accumulation of mast cells in tissues. Atypical clinical features may mimic impetigo, Langerhans cell histiocytosis, and carcinoid syndrome; however, only 1 case of scarring alopecia associated with mastocytosis has been reported. We present the first case of cutaneous mastocytosis associated with congenital alopecia areata in a 3-year-old Korean girl. This case showed an atypical clinical presentation of congenital alopecia areata, but histopathological results confirmed the diagnosis of cutaneous mastocytosis.

Cutaneous mastocytosis exacerbated by pinworms in a young boy.

Cutaneous mastocytosis in children has an indolent course and undergoes spontaneous regression. Many triggering factors may cause mast cell degranulation and clinical manifestations. Knowledge of these factors is important for patients and their families. We report a case of exacerbation of urticaria pigmentosa due to mast cell degranulation caused by Enterobius vermicularis, which has not been reported before as a triggering factor.

Gastroesophageal reflux disease accompanying urticaria pigmentosa.

A few case reports have only been published to date, which show the possible link between mastocytosis and gastroesophageal reflux disease (GERD). Here, we present a 17-month-old boy with urticaria pigmentosa who also suffered from GERD. First skin lesions accompanied by gastrointestinal symptoms (regurgitations, appetite worsening) were noticed at the age of four months. At that time, they were misdiagnosed as symptoms of cow's milk allergy. Despite the cow's milk-free diet, the skin and gastrointestinal symptoms slowly worsened and the patient was referred to us for further diagnostics several months later. Based on the clinical presentation of skin lesions, presence of pruritus and positive Darier's sign, cutaneous mastocytosis was diagnosed; 24-hour pH-metry revealed an increased number of acidic refluxes and biopsy of duodenal mucosa showed numerous mast cells. Taking into account these findings, the gastrointestinal symptoms were supposed to be a manifestation of mastocytosis. Treatment with sodium cromoglycate, cetirizine, ranitidine and probiotics resulted in pruritus alleviation, improvement of appetite and sleeping as well as increase of body weight.

Mastocitosis: actualización y aspectos de interés para el médico de atención primaria. Segunda parte / Mastocytosis: update and aspects of interest for the primary care physician. Part two

Las mastocitosis son enfermedades clonales poco frecuentes con una baja infiltración tisular, excepto en las formas agresivas, y por lo general de buen pronóstico. Los síntomas clínicos están relacionados fundamentalmente con la liberación de potentes mediadores del mastocito más que con el grado de infiltración de los órganos. Como sucede con todas las llamadas «enfermedades raras», son poco conocidas por los médicos y ello hace que la creación de unidades monográficas de referencia suponga la mejor vía para asegurar a los pacientes el mismo derecho a la salud que aquellos que padecen enfermedades más frecuentes y conocidas. En España existe desde el año 1993 la Red Española de Mastocitosis y desde el año 2007 un centro nacional de referencia ubicado en el Hospital Virgen del Valle (Instituto de Estudios de Mastocitosis de Castilla-La Mancha) que cuenta con los medios necesarios para el correcto manejo y control de esta patología. Sin embargo, un centro como el Instituto de Estudios de Mastocitosis de Castilla-La Mancha requiere la colaboración de los médicos de asistencia primaria para poder llevar a cabo su tarea. En la segunda parte de este trabajo se revisan aspectos pronósticos, terapéuticos y recomendaciones prácticas para enfermos con mastocitosis y sus médicos responsables (AU)

Mastocytosis is an uncommon clonal disease with low tissue infiltration, except in its aggressive forms, in which the prognosis is generally good. The clinical symptoms are fundamentally related with the release of potent mastocyte mediators (CM) more than with the degree of organ infiltration. As occurs with all the so-called “Rare Diseases,” they are little known by the physicians. That is why the creation of the Monographic Reference Unit is the best way to assure that the patients have the same right to health as those who suffer more frequent and known diseases. The Network of Mastocytosis (REMA) has existed in Spain since the year 1993. Since 2007, a National Reference Center that has the necessary resources for the correct management and control of this condition, has been located in the Hospital Virgen del Valle (Institute of the Study of Mastocytosis of Castilla-La Mancha –CLMast–). However, a center such as the CLMast requires the collaboration of primary health care physicians to be able to perform its task. In the second part of this work, the prognostic, therapeutic aspects and practical recommendations for patients with mastocytosis and their responsible physicians are reviewed (AU)

Mastocitosis: actualización y aspectos de interés para el médico de atención primaria. Primera parte / Mastocytosis: Update and aspects of interest for the primary care physician: part one

Las mastocitosis son enfermedades clonales poco frecuentes, con una baja infiltración tisular, excepto en la formas agresivas, y por lo general de buen pronóstico. Los síntomas clínicos están relacionados fundamentalmente con la liberación de potentes mediadores del mastocito, más que con el grado de infiltración de los órganos. Como sucede con todas las llamadas «enfermedades raras», son poco conocidas por los médicos y esto hace que la creación de unidades monográficas de referencia suponga la mejor vía para asegurar a los pacientes el mismo derecho a la salud que aquellos que padecen enfermedades más frecuentes y conocidas. En España existe, desde el año 1993, la Red Española de Mastocitosis, y desde el año 2007, un centro nacional de referencia ubicado en el Hospital Virgen del Valle (Centro de Estudios de Mastocitosis de Castilla-La Mancha), que cuenta con los medios necesarios para el correcto manejo y control de esta patología. Sin embargo, un centro como el Centro de Estudios de Mastocitosis de Castilla-La Mancha requiere la colaboración de los médicos de asistencia primaria para poder llevar a cabo su tarea. Este trabajo pretende mejorar los conocimientos del médico de atención primaria sobre este grupo de enfermedades y remarcar la importancia de la colaboración entre el primer nivel asistencial y las unidades de referencia de atención especializada para una atención óptima e integral de estos pacientes (AU)

Mastocytosis is an uncommon clonal disease with low tissue infiltration, except in its aggressive forms, in which the prognosis is generally good. The clinical symptoms are fundamentally related with the release of potent mastocyte mediators (CM) more than with the degree of organ infiltration. As occurs with all the so-called “Rare Diseases,” they are little known by the physicians. That is why the creation of the Monographic Reference Unit is the best way to assure that the patients have the same right to health as those who suffer more frequent and known diseases. The Network of Mastocytosis (REMA) has existed in Spain since the year 1993. Since 2007, a National Reference Center, that has the necessary resources for the correct management and control of this condition, has been located in the Hospital Virgen del Valle (Institute of the Study of Mastocytosis of Castilla-La Mancha –CLMast–). However, a center such as the CLMast requires the collaboration of primary health care physicians to be able to perform its task.This work has aimed to improve the knowledge of the primary care physicians on this group of diseases and to stress the importance of collaboration between the first care level with the specialized care reference units for the optimal and total care of these patients (AU)

[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.