Mastocytosis is a disorder characterized by abnormal mast cell proliferation and accumulation in one or more tissues. It presents in two major variants: cutaneous mastocytosis and systemic mastocytosis. Because the symptoms are related to mast cells, histamine receptor antagonists and leukotriene receptor antagonists are recommended as therapeutic options. Here, we report a 54-year-old male patient with a history of urticaria pigmentosa who presented with recurrent anaphylaxis. His serum tryptase level was 31.7 ng/mL and mast cell infiltration was observed in his bone marrow. He had frequent attacks of anaphylaxis despite treatment with ketotifen, levocetirizine, and montelukast. Symptoms related to systemic mastocytosis were controlled and the patient exhibited no recurrence of anaphylaxis following the introduction of monthly omalizumab injection. Omalizumab can be considered as a treatment option in patients with systemic mastocytosis unresponsive to conventional oral medications.
Anaphylaxis ; Bone Marrow ; Humans ; Ketotifen ; Leukotriene Antagonists ; Male ; Mast Cells ; Mastocytosis ; Mastocytosis, Cutaneous ; Mastocytosis, Systemic ; Middle Aged ; Omalizumab ; Receptors, Histamine ; Recurrence ; Tryptases ; Urticaria Pigmentosa

No abstract available.
Humans ; Infant* ; Male* ; Urticaria Pigmentosa* ; Urticaria*

This is a case of an 11-month-old male who presented with multiple scattered mildly pruritic brown macules, papules and patches on the face, trunk and extremities, sparing the palms and soles. Darier sign was positive. Patient did not present with hepatosplenomegaly, lymphadenopathy and gastrointestinal symptoms. He was treated with emollients, potent topical steroids, antihistamines and a mast cell stabilizer with clinical improvement of cutaneous lesions after two weeks.

Human ; Male ; Infant ; Urticaria Pigmentosa ; Anti-allergic Agents ; Emollients ; Extremities ; Histamine Antagonists ; Lymphadenopathy ; Mast Cells ; Torso ; Mastocytosis ; Darier Disease

Mastocytosis is a rare disease in infants and children that characterized by a pathologic increase and accumulation of mast cells in one or more organs. Cutaneous mastocytosis is a typical presentation of pediatric-onset mastocytosis and often presents classical symptoms and signs related with mast cell mediator including pruritus, flushing, abdominal pain and Darier's sign. We present our experience with two rare cases of cutaneous mastocytosis, a 3-month-old boy and a 4-month-old boy. The former had a recurrent single brownish plaque with yellowish bullae in right forearm without any other symptom or sign. The latter had multiple brownish plaques in his trunk and extremities with intermittent diarrhea and Darier's sign. In each, a punch biopsy confirmed the diagnosis of solitary mastocytoma and urticaria pigmentosa. After 2weeks of anti-histamine and leukotriene antagonist therapy for symptom relief, both infants had no remnant skin lesion or symptoms.
Abdominal Pain ; Biopsy ; Blister ; Child ; Diarrhea ; Extremities ; Flushing ; Forearm ; Humans ; Infant ; Mast Cells ; Mastocytoma ; Mastocytosis ; Mastocytosis, Cutaneous ; Pruritus ; Rare Diseases ; Skin ; Urticaria Pigmentosa

Urticaria pigmentosa (UP) is the most common variant of cutaneous mastocytosis. Primarily a disease of childhood, in over one-half of the cases onset is before 2 years of age, and in 90%, the disease is confined to the skin. UP precedes the diagnosis of systemic mastocytosis and is more common in adults than in children. Therefore, systemic examination should be performed in patients with UP. We report a case of adult-onset UP with systemic involvement.
Adult ; Child ; Humans ; Mastocytosis, Cutaneous ; Mastocytosis, Systemic ; Skin ; Urticaria ; Urticaria Pigmentosa

Mastocytosis is an uncommon disease characterized by an abnormal accumulation of mast cells in a variety of tissues, most commonly, in the skin. It may mimic other conditions because of numerous signs and symptoms produced by mast cell mediators. We report a case of an unusual manifestation of cutaneous mastocytosis in a 7-year-old girl who had hypertrophy and periodic swelling of the left labia majora with urticaria pigmentosa.
Child ; Humans ; Hydrazines ; Hypertrophy ; Mast Cells ; Mastocytosis ; Mastocytosis, Cutaneous ; Skin ; Urticaria Pigmentosa

A patient with long-standing urticaria pigmentosa presented with a pea-sized reddish to purplish papule on the posterior part of the right ear. Histopathologic examination revealed numerous dilated vascular structures in the upper dermis and mast cell infiltrations throughout the whole dermis, consistent with combined mastocytoma-hemangioma. The mast cells were strongly positive with Giemsa stain.
Azure Stains ; Dermis ; Ear ; Hemangioma ; Humans ; Mast Cells ; Mastocytoma ; Urticaria ; Urticaria Pigmentosa

BACKGROUND: Telangiectasia macularis eruptiva perstans (TMEP) is a rare form of cutaneous mastocytosis, and this is characterized by multiple brownish-red confluent macules and telangiectasia. Although several cases of TMEP have been reported in the Korean literature, no clinicopathological studies have yet been reported. OBJECTIVE: This study was undertaken to document the clinical features of TMEP, to examine the histopathological features of TMEP and to quantify the number of perivascular mast cell by using the 'mast cells per vessel unit method (MPV). METHODS: The medical records of 16 patients with TMEP and who were seen at our institution from 1999 through 2006 were retrieved. We retrospectively reviewed the medical records, clinical photographs and histopathology slides of these patients. Furthermore, we quantified the number of perivascular mast cells, using the MPV method, on the slides of the TMEP patients, and then we compared this to the number of perivascular mast cells in normal skin (n=10) and urticaria pigmentosa skin (UP, n=10) as controls. RESULTS: The ratio of male to female was 13:3 and the mean age of onset was 36.31+/-12.34 years. The most commonly involved sites were both the trunk and upper extremities (62.5%). 5 patients (31.3%) showed constitutional symptoms. A microscopic examination demonstrated scant perivascular infiltrate with mast cells. The average number of mast cells less than 55micrometer of vessel diameter in the TMEP, normal skin and UP was 3.32, 1.17 and 5.89, respectively and the average number of mast cells that were more than 55micrometer in the TMEP, normal skin and UP was 7.00, 2.08 and 21.00, respectively and these values showed statistical differences (p<.0001). The MPV that was of less than 55micrometer of vessel diameter in the patients with associated cutaneous or systemic symptoms was greater that that of the patients without associated symptoms and these values showed statistical differences (p<.005). CONCLUSION: This study suggested that TMEP can be associated various constitutional and cutaneous symptoms. The MPV method can be an effective method for differentiating the histopathologic findings of TMEP from those of normal skin or UP.
Age of Onset ; Female ; Glycosaminoglycans ; Humans ; Male ; Mast Cells ; Mastocytosis, Cutaneous ; Medical Records ; Retrospective Studies ; Skin ; Telangiectasis ; Upper Extremity ; Urticaria Pigmentosa

BACKGROUND: Telangiectasia macularis eruptiva perstans (TMEP) is a rare form of cutaneous mastocytosis, and this is characterized by multiple brownish-red confluent macules and telangiectasia. Although several cases of TMEP have been reported in the Korean literature, no clinicopathological studies have yet been reported. OBJECTIVE: This study was undertaken to document the clinical features of TMEP, to examine the histopathological features of TMEP and to quantify the number of perivascular mast cell by using the 'mast cells per vessel unit method (MPV). METHODS: The medical records of 16 patients with TMEP and who were seen at our institution from 1999 through 2006 were retrieved. We retrospectively reviewed the medical records, clinical photographs and histopathology slides of these patients. Furthermore, we quantified the number of perivascular mast cells, using the MPV method, on the slides of the TMEP patients, and then we compared this to the number of perivascular mast cells in normal skin (n=10) and urticaria pigmentosa skin (UP, n=10) as controls. RESULTS: The ratio of male to female was 13:3 and the mean age of onset was 36.31+/-12.34 years. The most commonly involved sites were both the trunk and upper extremities (62.5%). 5 patients (31.3%) showed constitutional symptoms. A microscopic examination demonstrated scant perivascular infiltrate with mast cells. The average number of mast cells less than 55micrometer of vessel diameter in the TMEP, normal skin and UP was 3.32, 1.17 and 5.89, respectively and the average number of mast cells that were more than 55micrometer in the TMEP, normal skin and UP was 7.00, 2.08 and 21.00, respectively and these values showed statistical differences (p<.0001). The MPV that was of less than 55micrometer of vessel diameter in the patients with associated cutaneous or systemic symptoms was greater that that of the patients without associated symptoms and these values showed statistical differences (p<.005). CONCLUSION: This study suggested that TMEP can be associated various constitutional and cutaneous symptoms. The MPV method can be an effective method for differentiating the histopathologic findings of TMEP from those of normal skin or UP.
Age of Onset ; Female ; Glycosaminoglycans ; Humans ; Male ; Mast Cells ; Mastocytosis, Cutaneous ; Medical Records ; Retrospective Studies ; Skin ; Telangiectasis ; Upper Extremity ; Urticaria Pigmentosa

We observed 2 cases of urticaria pigmentosa with synchronous onset and concordant manifestation in a pair of identical male twins. At the age of 12 months both had developed multiple, round-to-oval, discrete brown-colored macules on the trunk and extremities. They had no systemic manifestations. Biopsy specimens in both cases showed the presence of a number of mast cells in the papillary and superficial dermis. We, herein, describe a pair of monozygotic twins with urticaria pigmentosa.
Biopsy ; Dermis ; Extremities ; Humans ; Male ; Mast Cells ; Twins, Monozygotic* ; Urticaria Pigmentosa* ; Urticaria*