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.

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.

Adult onset urticaria pigmentosa: a case report

Urticaria pigmentosa is a fairly indolent form of cutaneous mastocytosis, which is more prevalent in infants than in adults. Adult onset disease is usually supposed to be associated with systemic disease and has a propensity for polycythemia vera and leukaemia in a certain percentage, though regression has been reported in as many as 19% cases. A useful clue to diagnose indolent forms from malignant forms is that invariably there is thrombocytopenia with leukocytosis in malignant forms. We report an adult female with typical lesions of urticaria pigmentosa, proven by skin biopsy, who showed a good response to H1 and H2 receptor blockage treatment

Mastocitosis sistémica: caso clínico / Systemic mastocytosis: report of one case

We report a 38 years old female who, since her childhood, had a history of precisely limited, fixed maculo papular dark brown cutaneous lesions in the trunk and extremities. These lesions become erythematous or urticarial after rubbing, medication intake or scratching. She also had frequent episodes of tachycardia, flushing, headache, abdominal pain, arthralgia, diarrhea and vomiting. She was hospitalized in three occasions due to high frequency tachycardia, hypotension, generalized urticarial erythema and clouding of consciousness. Three of these episodes occurred after the ingestion of antinflammatory drugs or acetylsalicylic acid. Mastocyte infiltration was confirmed in skin and bone marrow biopsies and in bone scintiscan. The use of H1, H2 blockers and mastocyte stabilizers gave partial relief to the patient

Histocitosis benigna cefálica: reporte de 4 casos / Benig cephalic hystiocytosis: report of 4 cases

Se presentan cuatro casos de Histiocitosis Benigna Cefálica, una histiocitosis cutánea de los niños autoinvolutiva, no X, no lipídica. La edad de comienzo fue entre los 5 y los 9 meses de vida, con pápulas y máculas eritematosas localizadas en la cabeza (principalmente en mejillas) con posterior diseminación a tronco y miembros en tres de los casos. Con microscopio óptico observamos infiltrados histiositario en la dermis superficial, S-100 negativo por método de las peroxidasas (método PRP). Uno de los casos mostró partículas vermiformes y uniones de tipo desmosomas en el estudio ultramicroscópico. No se encontraron gránulos de Bierbeck. La Histiositosis Benigna Céfalica es una patología autoinvolutiva que no requiere tratamiento.

An Ultrastructural Study of Urticaria Pigmentosa

To investigate ultrastructural characteristics of mast cells in urticaria pigmentosa in comparison to mast cells in other conditions and to search for the possible differences of ultrastuctural features amog different types of urticaria pigmentosa as well as those from normal mast cells, 4 cases of urticaria pigmentosa and 1 case of mastocytosis associated with capillary hemangioma were studied by both light and electron microscopic examinations. The cases of urticaria pigmentosa consisted of one case of blister type from a 3 month old ma1e infant, 2 cases of maculo-papular type both from 10 month old male infants, and a case of nodular type from a 14 month old boy. Ultrastructural features of mast cells in urticaria pigmentosa, in general; a) appeared relatively immature; b) mast cells in nodular type of urticaria pigmentosa were mostly round shaped while other types showed spindle or oblong shapes; c) mast cells in the maculo-papular type and those in hemangioma were similar and resembled normal mast cells; and d) marked degranulation of mast cells in the form of expulsion of granules, perigranular vacuole formation and intracellular disolution of granules for the blister type of urticaria pigmentosa.