ABSTRACT
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.
Subject(s)
Urticaria Pigmentosa , Adrenal Cortex Hormones/therapeutic use , Adult , Age of Onset , Child , Child, Preschool , Comorbidity , Diagnosis, Differential , Histamine Antagonists/therapeutic use , Humans , Hypersensitivity/epidemiology , Infant , Infant, Newborn , Mast Cells/metabolism , Mast Cells/pathology , Mastocytosis/classification , Mutation, Missense , Point Mutation , Proto-Oncogene Proteins c-kit/genetics , Proto-Oncogene Proteins c-kit/physiology , Stem Cell Factor/physiology , Urticaria Pigmentosa/diagnosis , Urticaria Pigmentosa/drug therapy , Urticaria Pigmentosa/epidemiology , Urticaria Pigmentosa/genetics , Urticaria Pigmentosa/pathology , Urticaria Pigmentosa/physiopathologyABSTRACT
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 antiinflammatory 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.
Subject(s)
Urticaria Pigmentosa/diagnosis , Adult , Chlorpheniramine/therapeutic use , Cimetidine/therapeutic use , Female , Histamine H1 Antagonists/therapeutic use , Histamine H2 Antagonists/therapeutic use , Humans , Ketotifen/therapeutic use , Urticaria Pigmentosa/drug therapyABSTRACT
Sao apresentados dois casos de mastocitose sistemica benigna secundaria a urticaria pigmentosa (up), com evolucao clinica superior a 16 anos. Em um dos casos a UP iniciou-se aos dois meses de idade e evoluiu para forma sistemica em menos de dois anos. Em outro paciente a UP iniciou-se aos 22 anos de idade e o diagnostico de MSB foi realizado apos 30 anos de evolucao. Ambos os casos apresentavam lesoes cutaneas, hepatoesplenomegalia e sintomas gastrointestinais. Mielograma demonstrou envolvimento medular; em um caso a biopsia revelou mielofibrose. A terapeutica com antagonistas histaminicos "H IND. 1" e "H IND. 2" com cetotifeno ofereceu bom controle dos sintomas.
Subject(s)
Humans , Male , Female , Adolescent , Middle Aged , Mastocytosis/diagnosis , Bone Marrow/pathology , Mastocytosis/drug therapy , Mastocytosis/pathology , Prognosis , Urticaria Pigmentosa/diagnosis , Urticaria Pigmentosa/drug therapyABSTRACT
The case histories of two patients with benign systemic mastocytosis with skin involvement are presented. The first patient had urticaria pigmentosa diagnosed at the age of 2 months, and developed systemic disease within two years. The second presented urticaria pigmentosa at the age of 22 years while benign systemic mastocytosis was diagnosed 30 years later. The clinical findings in both cases were: skin involvement, hepatosplenomegaly and abdominal pain. The second patient had myelofibrosis. There was a favorable response to H1 and H2 histamine antagonist and ketotifen.
Subject(s)
Mastocytosis/pathology , Adolescent , Bone Marrow/pathology , Diagnosis, Differential , Female , Humans , Male , Mastocytosis/drug therapy , Middle Aged , Prognosis , Urticaria Pigmentosa/drug therapy , Urticaria Pigmentosa/pathologyABSTRACT
Se presentan las características hematológicas halladas en una niña a los 17 meses de edad con diagnóstico de mastocitosis sitémica congénita efectuado en el primer mes de vida. Se observó anemia sin mastocitos circulantes en sangre periférica, y en médula ósea se halló un infiltrado mastocítico que varió entre 8 y 18% en exámenes sucessivos. Se trató con antihistamínicos y medidas de tipo general, y luego de 4 años de evolución se observa ligero retardo de crecimiento sin presentar infiltración mastocítica em médula ósea
Subject(s)
Infant , Humans , Female , Mast Cells , Urticaria Pigmentosa/congenital , Bone Marrow , Chlorpheniramine/therapeutic use , Cimetidine/therapeutic use , Urticaria Pigmentosa/drug therapyABSTRACT
Se presentan las características hematológicas halladas en una niña a los 17 meses de edad con diagnóstico de mastocitosis sitémica congénita efectuado en el primer mes de vida. Se observó anemia sin mastocitos circulantes en sangre periférica, y en médula ósea se halló un infiltrado mastocítico que varió entre 8 y 18% en exámenes sucessivos. Se trató con antihistamínicos y medidas de tipo general, y luego de 4 años de evolución se observa ligero retardo de crecimiento sin presentar infiltración mastocítica em médula ósea (AU)