R634W KIT Mutation in an Adult With Systemic Mastocytosis.

Mastocytosis is a clonal neoplasm with the potential to affect various organs within the body. It can range in clinical severity from benign to extremely aggressive. Mastocytosis can be separated into cutaneous, systemic, and leukemic forms, as well as mast-cell sarcoma and extracutaneous mastocytoma. It is most often an acquired condition but can be inherited; the most commonly identified genetic aberrations leading to mastocytosis are activating mutations involving codon 816 of the KIT gene. Herein, we present the case of a 30-year-old Caucasian man with systemic mastocytosis discovered to have a p.Arg634Trp mutation involving KIT. To our knowledge, this mutation has previously only been identified in children with familial urticarial pigmentosa. Ours is the the first case report in the literature of an adult with systemic mastocytosis likely due to a p.Arg634Trp KIT mutation.

[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.

[Bone involvement in systemic mastocytosis: Report of two cases]. / Compromiso óseo en mastocitosis sistémica: una asociación frecuente, pero muchas veces inadvertida.

Systemic mastocytosis (SM) is characterized by pathologic expansion and activation of mast cells. The main clinical manifestations of SM include skin involvement, gastrointestinal symptoms and anaphylaxis due to the release of its mediators. Thirty percent of pat ients with SM have a low bone mass and 20% fractures. At the same time, SM affects 10% of male patients with idiopathic osteoporosis. Measuring serum tryptase is essential for the screening of MS. We report two cases of SM with bone involvement. A 25-year- old woman with prior diagnosis of SM, based on skin involvement, flushing, high serum tryptase and compatible bone marrow (BM) biopsy and genetic study. Low bone mass was diagnosed and treatment was started with calcium and vitamin D plus oral bisphosphona tes with adequate response. A 47 years old man who presented with multiple osteoporotic vertebral fractures and low bone mass. Treatment with vitamin D and alendronate was started, but the patient developed new vertebral fractures. The study was extended w ith measurement of serum tryptase that was elevated. Diagnosis of SM was confirmed with BM biopsy and the patient was referred to hematology for specific care. These cases emphasize the importance of bone assessment in SM, as well as the need to rule out S M in patients with osteoporosis and no evident cause.

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.

Compromiso óseo en mastocitosis sistémica: una asociación frecuente, pero muchas veces inadvertida / Bone involvement in systemic mastocytosis: report of two cases

Systemic mastocytosis (SM) is characterized by pathologic expansion and activation of mast cells. The main clinical manifestations of SM include skin involvement, gastrointestinal symptoms and anaphylaxis due to the release of its mediators. Thirty percent of pat ients with SM have a low bone mass and 20% fractures. At the same time, SM affects 10% of male patients with idiopathic osteoporosis. Measuring serum tryptase is essential for the screening of MS. We report two cases of SM with bone involvement. A 25-year- old woman with prior diagnosis of SM, based on skin involvement, flushing, high serum tryptase and compatible bone marrow (BM) biopsy and genetic study. Low bone mass was diagnosed and treatment was started with calcium and vitamin D plus oral bisphosphona tes with adequate response. A 47 years old man who presented with multiple osteoporotic vertebral fractures and low bone mass. Treatment with vitamin D and alendronate was started, but the patient developed new vertebral fractures. The study was extended w ith measurement of serum tryptase that was elevated. Diagnosis of SM was confirmed with BM biopsy and the patient was referred to hematology for specific care. These cases emphasize the importance of bone assessment in SM, as well as the need to rule out S M in patients with osteoporosis and no evident cause.

[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.

Urticaria Pigmentosa de presentación atípica en la infancia: reporte de un caso clínico / Pigment urticaria of atypical presentation in childhood: clinical case report

La Urticaria Pigmentosa es el tipo más frecuente de mastocitosis cutánea (MC) de inicio en la edad pediátrica, representando el 75 por ciento de las MC. Se presenta con máculas y/o pápulas de color amarillo a café-rojizo, usualmente con signo de Darier positivo y prurito. El 88 por ciento presenta compromiso de tronco. En este artículo compartimos el caso de Urticaria Pigmentosa de presentación atípica: predominio de lesiones en cara y sin compromiso de tronco.(AU)

Urticaria Pigmentosa is the most common form of cutaneous mastocytosis (CM) starting in childhood and accounts for 75 percent of all the CM cases. It presents with yellow to brown-reddish macules or papules, usually with positive Darier sign and itching. Trunk involvement is present in 88 percent of patients. In this article we describe a case of Urticaria Pigmentosa with an atypical presentation: facial predominance without trunk involvement. (AU)

Dermatoscopic findings of urticaria pigmentosa / Achados dermatoscopicos na urticaria pigmentosa

Mastocytosis is a rare disease characterized by proliferation and accumulation of mast cells in various organs. The maculopapular cutaneus mastocytosis is divided into three subtypes: papular/plaque variant, urticaria pigmentosa and eruptive macular telangiectasia perstans. Dermoscopic may help to better characterize the different forms of cutaneus mastocytosis. We report a 55 year-old female with urticaria pigmentosa and its dermoscopy.

Mastocitose é uma doença rara caracterizada pela proliferação e acúmulo de mastócitos em vários órgãos. A mastocitose cutanea maculopapular divide-se em três subtipos: variante máculo-papular, urticária pigmentosa e telangiectasia macular eruptiva perstans. A dermatoscopia pode ajudar a caracterizar melhor as diferentes formas de mastocitose cutânea. Relatamos um caso de paciente feminina de 55 anos com urticária pigmentosa e sua dermatoscopia.

Mastocitosis: presentación de un caso / Mastocytosis: a case report

La mastocitosis o mastocitoma es una genodermatosis poco frecuente, de etiología desconocida, incluida en el grupo de "enfermedades raras", que aparece en la infancia generalmente. Se relaciona con procesos de hipersensibilidad, enfermedades crónicas o neoplásicas. Se caracteriza por acumulación local o sistémica de células cebadas, dando lesiones cutáneas pruriginosas, persistentes y pigmentadas de diferentes tamaños. Se presenta un adolescente de 17 años, masculino, con lesiones cutáneas de seis años de evolución, del área de salud del Pol. Dr. Isidro de Armas, Municipio Playa, La Habana, cuyo síntoma predominante era el prurito y enrojecimiento de cara. Luego del estudio realizado, se diagnostica una mastocitosis, variedad urticaria pigmentosa. Se constatan malformaciones óseas y tendencia a variante sistémica. Se trata para aliviar los síntomas, e interconsulta con otras especialidades para mejorar su calidad de vida. Se demuestra la importancia del método clínico para llegar al diagnóstico positivo de una enfermedad poco frecuente y de pronóstico reservado, en la Atención Primaria(AU)

Mastocytosis or mast cell tumor is a rare genodermatosis of unknown etiology, belonging to the group of "Rare Diseases" that appear generally during childhood. It is related to hypersensitivity processes, chronic diseases or neoplasms. It is characterized by local accumulation or systemic mast cells (mastocytes), causing cutaneous pruritogenic, persistent and different-sized pigmented lesions. A 17- year-old male adolescent presented cutaneous six-year progression lesions, the patient belonged to the health area of Dr. Isidro de Armas Outpatient clinic, Playa municipality, Havana. The prevailing symptoms were pruritus and redness of face. After the study carried out, mastocytosis was diagnosed, urticaria pigmentosa variety; observing osseous malformations and a systemic variant set. Symptoms were treated to be relieved, along with referrals to other medical specialties to improve his quality of life. The importance of clinical method to establish a positive diagnosis of a rare disease and its uncertain prognosis was demonstrated in Primary Health Care(AU)

Urticária pigmentosa: mastocitose cutânea na infância / Urticaria pigmentosa: cutaneous mastocytosis in a child

A mastocitose é uma doença rara caracterizada pela proliferação e subsequente acúmulo de mastócitos na pele e/ou órgãos internos. Esta patologia pode ser dividida em cutânea e sistêmica. A cutânea é mais frequente na infância; o infiltrado de mastócitos é limitado à pele, geralmente tem uma evolução benigna e regride espontaneamente na adolescência. A urticária pigmentosa é a apresentação cutânea mais comum. São máculas, pápulas, nódulos ou placas, de coloração vermelho-acastanhada, com predileção pelo tronco. O sinal de Darier ocorre em 90% dos pacientes. Este trabalho tem como objetivo relatar um caso de mastocitose cutânea na infância, no qual o quadro clínico e a biópsia de pele foram suficientes para o diagnóstico. Em pacientes com mastocitose, é importante enfatizar a necessidade do acompanhamento periódico com realização de exames laboratoriais e de imagem, conforme a sintomatologia apresentada pelo paciente, e informar a família sobre a doença e acerca da maior predisposição à anafilaxia.

Mastocytosis is a rare disease characterized by proliferation and subsequent accumulation ofmast cells in the skin and/or internal organs. Presentation can be cutaneous or systemic. Thecutaneous form is more common in childhood; mast cell infiltration is limited to the skin, clinicalcourse is usually benign, and the disease regresses spontaneously in adolescence. Urticariapigmentosa is the most common cutaneous presentation. It includes macules, papules, nodules,or plaques, brownish red in color, with a predilection for the trunk. Darier’s sign is present in 90%of the patients. The present study reports on a case of cutaneous mastocytosis in childhood inwhich clinical evaluation and skin biopsy were sufficient to establish diagnosis. In patients withmastocytosis, regular monitoring with laboratory tests and imaging exams is extremely important,according to the symptoms presented by the patient. Likewise, the need to inform the familyabout the characteristics of the disease and the higher risk of anaphylaxis is underscored.

Urticaria pigmentosa: presentación de un caso / Urticaria pigmentosa: a case report

La urticaria pigmentosa es una de las varias formas de mastocitosis cutáneas, que ocurre donde hay demasiadas células inflamatorias (mastocitos) en la piel. Se observa con mayor frecuencia en niños de 3 meses a 3 años de edad. Se presentó un caso de una paciente lactante de 3 meses de edad, blanca, femenina, con antecedentes de salud. Al examen dermatológico presentó un cuadro cutáneo diseminado por la cara, el tronco y miembros inferiores, excepto palmas y plantas, constituido por pápulas, placas eritematosas amarronadas, con el signo de Darier positivo, como lo describe la literatura, e histopatológicamente con alteraciones propias de la enfermedad, que mostró un infiltrado inflamatorio denso de mastocitos maduros, con distribución liquenoide, situado en la dermis papilar y media, sin localización epidérmica. Un porciento de los niños con mastocitosis cutánea (urticaria pigmentosa) tiene un riesgo muy elevado de presentar un comportamiento clínico severo que, si no remite, tiende a convertirse en sistémica; de ahí la importancia de su seguimiento (AU)

Pigmentosa urticaria is one of the several forms of cutaneous mastocytosis that happen where there are too many inflammatory cells (mastocites) in the skin. It is observed most frequently in children from 3 months to 3 years of age. A case of a breastfeedingof 3 months, feminine, white, with health antecedents was presented. Under the dermatological examination she presented a cutaneous episode scattered by the face, inferior trunk and members, respecting palms and plants, constituted by papules, brownish erythematous blotch, with the sign of positive Darier, and histopathologically with own alterations of the disease, that showed a dense inflammatory infiltrating of mature mast cells, with lichenoide distribution, located in the papillary dermal and media, without epidermic location. Children with cutaneous mastocytosis (urticaria pigmentosa), a percent of them have a very high risk to present a severe clinical behavior, if it does not send, tends to become sistemic, because of this the importance of their monitoring (AU)

Dermatoscopic findings of urticaria pigmentosa.

Mastocytosis is a rare disease characterized by proliferation and accumulation of mast cells in various organs. The maculopapular cutaneous mastocytosis is divided into three subtypes: papular/plaque variant, urticaria pigmentosa and eruptive macular telangiectasia perstans. Dermoscopic may help to better characterize the different forms of cutaneous mastocytosis. We report a 55 year-old female with urticaria pigmentosa and its dermoscopy.

Urticaria pigmentosa en el adulto / Urticaria pigmentosa in adult

La urticaria pigmentosa es una de las formas más comunes de las mastocitosis, las cuales corresponden a una serie de procesos caracterizados por un aumento anormal de los mastocitos en diversos órganos y tejidos corporales. En la urticaria pigmentosa la manifestación es exclusiva de la piel, caracterizada por la presencia de lesiones maculopapulares de 2.5 a 5 mm de diámetro, de un color que puede oscilar entre rojo y café, distribuyéndose generalmente en tronco y extremidades respetando palmas y plantas. Cerca de la mitad de los lesiones presenta rubor localizado, prurito y ampollas. Su incidencia y prevalencia son desconocidas; sin embargo, su aparición es más común en niños que en adultos. El diagnóstico depende en gran manera de un adecuado examen físico complementado con estudios de laboratorio e histopatología. El tratamiento de elección constituye la administración de antihistamínicos orales. [Ávila JA, Cala JC, Gelvis JA, Torres V, Mosquera H. Urticaria pigmentosa en el adulto. MedUNAB 2012; 15:63-67].

Urticaria pigmentosa is one of the most common forms of mastocytosis, which correspond to a series of processes characterized by an abnormal increase of mast cells in different organs and tissues. Urticaria pigmentosa has an unique manifestation in the skin, characterized by maculopapular lesions 2.5 to 5 mm in diameter, of a color that can range from red and brown, usually distributed on the trunk and limbs respecting the palms and soles. Half of the lesions presented blush on a specific site, pruritus and blisters. The incidence and prevalence are unknown but their appearance is more common in children than in adults. Diagnosis depends on an properly physical examination with laboratory test and histopathological analysis. The treatment of choice is the administration of oral antihistamines. [Ávila JA, Cala JC, Gelvis JA, Torres V, Mosquera H. Urticaria pigmentosa in adult. MedUNAB 2012; 15:63-67].

[Urticaria pigmentosa: two different clinical presentations in pediatric patients]. / Urticaria pigmentosa: dos presentaciones clínicas diferentes en pediatría.

Urticaria pigmentosa (UP) is the most frequent clinical feature of cutaneous mastocytosis. It usually begins in a bimodal way: a peak of incidence from birth to the age of 3 and the other one between 2(nd) and 6(th) decades of life. Darier's sign is constant over the affected skin without affecting the surrounding skin. When UP starts early, it has a good prognosis disappearing into adolescence, while late onset is often associated with persistent or systemic involvement. This article reports two cases of UP, one with the classic description of the disease and the other with an unusual clinical presentation, prompting the pediatrician to incorporate both forms as different manifestations of the same entity.

Urticaria pigmentosa: dos presentaciones clínicas diferentes en pediatría / Urticaria pigmentosa: two different clinical presentations in pediatric patients

La urticaria pigmentosa es la forma más común de mastocitosis cutánea. Suele iniciarse de manera bimodal: un pico de incidencia desde el nacimiento hasta los 3 años de vida y otro entre la 2ª y 6ª décadas de la vida. El signo de Darier es constante sobre el área afectada, sin extenderse a piel vecina. La forma de comienzo precoz tiene buen pronóstico y desaparece hacia la adolescencia, pero la de comienzo tardío suele ser persistente o asociarse a afectación sistémica. Se comunican dos casos de urticaria pigmentosa, uno con la descripción clásica de la enfermedad y otro con presentación clínica infrecuente, por lo cual el pediatra debe incorporar ambas formas como manifestaciones distintas de una misma entidad.

Urticaria pigmentosa (UP) is the most frequent clinical feature of cutaneous mastocytosis. It usually begins in a bimodal way: a peak of incidence from birth to the age of 3 and the other one between 2nd and 6th decades of life. Darier's sign is constant over the affected skin without affecting the surrounding skin. When UP starts early, it has a good prognosis disappearing into adolescence, while late onset is often associated with persistent or systemic involvement. This article reports two cases of UP, one with the classic description of the disease and the other with an unusual clinical presentation, prompting the pediatrician to incorporate both forms as different manifestations of the same entity.

Las mastocitosis / Mastocytosis

Las mastocitosis están incluidas dentro del grupo de enfermedades raras debido a su baja frecuencia. Se caracterizan por el crecimiento y acumulación de causa desconocida de mastocitos en piel y otros órganos. Las manifestaciones clínicas se deben a la infiltración por mastocitos y a la liberación de mediadores químicos. El diagnóstico se establece por la clínica y los hallazgos histopatológicos en biopsias de piel y de órganos afectados, como la médula ósea. En la piel se manifiesta como urticaria pigmentosa. Existen varias clasificaciones, pero ninguna ha sido universalmente aceptada. El tratamiento es sintomático y no altera el curso de la enfermedad. La mayoría de los pacientes presentan síntomas relacionados con la liberación de mediadores del mastocito, y la prevención de sus efectos sobre los tejidos constituye la clave del tratamiento(AU)

Mastocytoses are included among the group of "rare diseases" due to their low frequency. They are characterized by the growth and accumulation of mastocytes on the skin and other organs for no known reason. Clinical manifestations are due to infiltration by mastocytes and the release of chemical mediators. The diagnosis is clinical and based on histopathological findings from biopsies of the skin and other organs affected, such as the bone marrow. On the skin, the illness is manifested as urticaria pigmentosa. Several classifications have been made, but none has been universally accepted. Treatment is symptomatic and does not change the course of the illness. Most patients present symptoms related to mastocyte mediator release, and prevention of its effects on tissues is crucial to the treatment(AU)