1/6. Urticating Hashimoto-Pritzker Langerhans cell histiocytosis.Red-brown papules developing during the neonatal period may present a diagnostic dilemma. The Darier sign has been a reliable feature in the diagnosis of mastocytosis. However, the cutaneous infiltrate of Hashimoto-Pritzker Langerhans cell histiocytosis (LCH) may contain a large number of mast cells, leading to confusion both clinically and histologically. We report an infant who developed red-brown papules of Hashimoto-Pritzker LCH during the neonatal period and presented with a positive Darier sign and acute urticaria.- - - - - - - - - - ranking = 1keywords = mastocytosis (Clic here for more details about this article) |
2/6. Familial aquagenic urticaria associated with familial lactose intolerance.Aquagenic urticaria is a rare disorder characterized by the occurrence of pruritus and wheals after temporary contact with water. The familial occurrence of aquagenic urticaria over 3 generations is reported here in association with familial lactose intolerance, a condition in which the enzyme lactase encoded on chromosome 2, is deficient. In two patients, a young man and his mother, we verified the appearance of pruritic hives 5 to 10 minutes after contact with water of any temperature. Other types of physical urticaria were absent, and mastocytosis was excluded by extensive laboratory investigations; lactose intolerance was confirmed in both patients by H(2)-exhalation test. In these patients the clinical symptoms did not respond to antihistamines or UV-radiation therapy. Four other members of the family had wheals from water contact, two of whom had lactose intolerance. Two other members had lactose intolerance only. Although the association of aquagenic urticaria with lactose intolerance may be coincidental, attention is drawn to the fact that the 2 conditions, known to be familial, may coexist in the same family, possibly based on an association of gene loci.- - - - - - - - - - ranking = 1keywords = mastocytosis (Clic here for more details about this article) |
3/6. mastocytosis: the great masquerader.Variants of mastocytosis can present with puzzling cutaneous and systemic symptoms and signs that can result in an erroneous diagnosis of idiopathic urticaria or idiopathic anayphylaxis. The molecular basis of mastocytosis is now better understood, with updated classification based on distinct growth factor and oncogene abnormalities. Elicitation of a full history and careful attention to the skin examination will usually provide the clinician enough information to deduce that the condition is not simply chronic idiopathic urticaria.- - - - - - - - - - ranking = 2keywords = mastocytosis (Clic here for more details about this article) |
4/6. Urticating histiocytosis: a mast cell-rich variant of histiocytosis X.histiocytosis X and mastocytosis are proliferative processes that may have similar cutaneous manifestations. However, a positive Darier's sign (urtication on stroking of the lesion) is thought to reliably distinguish between these two diseases. We recently studied a 13-year-old girl with a 2-year history of extensive skin lesions and a positive Darier's sign. Routine histopathologic studies revealed a polymorphous cutaneous infiltrate composed of histiocytes, mast cells, eosinophils, and lymphoid cells. Electron microscopic studies demonstrated Langerhans granules in some of the histiocytes, and immunologic studies of frozen tissue showed that a significant subpopulation of the histiocytes marked as langerhans cells. Giemsa staining of specimens from eight other cases of cutaneous histiocytosis X from our files revealed mast cells in all of the lesions, although none showed the abundance of mast cells present in the case with urtication. Our studies emphasize the often polymorphous nature of the cell population in cutaneous histiocytosis X and demonstrate that confusing clinical findings can result when the mast cell population in histiocytosis X produces urtication.- - - - - - - - - - ranking = 1keywords = mastocytosis (Clic here for more details about this article) |
5/6. mastocytosis presenting as a skeletal disorder.mastocytosis is a rare disease of mast-cell proliferation with involvement of the reticuloendothelial systems including skin, bone, gastrointestinal tract, liver, lungs, spleen, and lymph nodes. Systemic mastocytosis is characterized by a combination of symptoms that relate to the mast cells' release of vasoactive substances, such as histamine. These symptoms include urticaria pigmentosa, flushing, syncope with hypotension, headaches, nausea, vomiting, diarrhea, and occasional bronchospasm. The diagnosis of mastocytosis is typically based on the presence of the characteristic extraosseus manifestations. A well recognized roentgenographic feature seen in 70-75% of patients with mastocytosis is diffuse osteolysis and osteosclerosis, affecting primarily the axial skeleton and the ends of the long bones. Rarely, the bony involvement consists of generalized osteoporosis, which may lead to pathologic fracture, or solitary lesions (mastocytomas) which may cause symptoms of localized pain. Four patients with previously diagnosed systemic mastocytosis had unusual skeletal lesions. Clinical and laboratory evaluation of these patients eventually led to the correct diagnosis of systemic mastocytosis. We report these four cases to emphasize the need for thorough evaluation of unusual musculoskeletal findings in association with extraosseus symptoms that are characteristic of mastocytosis. knowledge of a wide differential diagnosis of unusual skeletal lesions should include systemic mastosytosis.- - - - - - - - - - ranking = 6keywords = mastocytosis (Clic here for more details about this article) |
6/6. Interstitial cystitis and bladder mastocytosis in a woman with chronic urticaria.A patient with chronic urticaria and angioedema developed endoscopically confirmed interstitial cystitis. Bladder biopsy revealed bladder mastocytosis with > 60 mast cells/mm2 (normal < 10) in the detrusor and submucosa. Most of the mast cells were activated and degranulated. The occurrence of IC in a patient with urticaria and angioedema, diseases both associated with mast cell pathophysiology, supports the role of mast cells in interstitial cystitis.- - - - - - - - - - ranking = 5keywords = mastocytosis (Clic here for more details about this article) |