BACKGROUND: Mastocytosis is characterized by accumulation of mast cells in various organs, most frequently, in skin. Cutaneous mastocytosis is a relatively rare disease in outpatient clinics and the clinicopathological study has not been done yet in Korea. OBJECTIVE: The aim of this study is to analyze the clinicopathological features of cutaneous mastocytosis. In addition, we examined CD117 expression in the skin biopsy specimens immuno histochemically. METHODS: Thirty cases of cutaneous mastocytosis were collected from 1990 to 1999 in Asan Medical Center. Clinical records, photographs, and biopsy slides were reviewed. In each biopsy specimen, CD117 was stained by immunoperoxidase method. RESULTS: Among 30 cases, 29 cases were childhood type urticaria pigmentosa(76.7%) or masto cytoma(20.0%) and only 1 case occurred after 16 years of age. The incidence showed a peak under 1 year old (70.0%) and males affected 2.3 times as much as females. The trunk and distal extremities are the most common site of urticaria pigmentosa and mastocytoma, respectively. CD117 was strongly positive in all cases of urticaria pigmentosa (both child and adult type) and mastocytoma. CONCLUSION: Urticaria pigmentosa of infantile onset was the most common, followed by infantile mastocytoma. Systemic reactive manifestations are rare in cutaneous mastocytosis. The strong expression of CD117 was seen regardless of the type of cutaneous mastocytosis.
Adult ; Ambulatory Care Facilities ; Biopsy ; Child ; Chungcheongnam-do ; Extremities ; Female ; Humans ; Incidence ; Korea ; Male ; Mast Cells ; Mastocytoma ; Mastocytosis ; Mastocytosis, Cutaneous* ; Rare Diseases ; Skin ; Urticaria ; Urticaria Pigmentosa

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

Seoul, Korea Cutaneous mastocytosis is primarily a disease of children and its onset in adults life is rare. When it develops in adult, lesions appear as urticaria pigmentosa in most cases, and rarely as telangiectasia macularis eruptiva perstans. We report herein a case of cutaneous mastocytosis which appeared for the first time around the age of 40 with mixed or intermediate form of urticaria pigmentosa and telangiectasia macularis eruptiva perstans clinically, and histologically.
Adult ; Child ; Humans ; Korea ; Mastocytosis, Cutaneous* ; Seoul ; Telangiectasis ; Urticaria Pigmentosa

Mastocytosis is a heterogenous group of disorders characterized by the proliferation and accumulation of mast cells in a variety of tissues, most often skin. Urticaria pigmentosa is the most common type of cutaneous mastocytosis in both adults and children. However, the clinical manifestation of adult-onset urticaria pigmentosa may have some differences such as smaller macules, more pruritic symptoms, and frequent association with systemic symptoms. We report a case of adult-onset urticaria pigmentosa in a 51-year-old woman which we compare to those cases reported in the literatures.
Adult ; Child ; Female ; Humans ; Mast Cells ; Mastocytosis ; Mastocytosis, Cutaneous ; Middle Aged ; Skin ; Urticaria Pigmentosa* ; Urticaria*

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 a heterogenous group of disorders characterized by abnormal growth and accumulation of mast cells in one or more organ systems. Urticaria pigmentosa represents the most common form of cutaneous mastocytosis in children and adults. We report a case of adult-onset urticaria pigmentosa in a 53-year-old man. The patient had pruritic multiple scattered well-demarcated brownish macules and papules on whole body for 4 years. Histopathologic examination showed diffuse and perivascular infiltration of lymphocytes and cuboidal mast cells in the upper dermis. Any sign or symptom of systemic involvement was not detected.
Adult ; Child ; Dermis ; Humans ; Lymphocytes ; Mast Cells ; Mastocytosis ; Mastocytosis, Cutaneous ; Middle Aged ; Urticaria Pigmentosa* ; Urticaria*

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

Introduction: Mastocytosis is a disease defined by the proliferation of mast cells in organs, most commonly the skin. It may affect any age group but is usually found in children in the first year of life. We present a case of diffuse cutaneous mastocytosis manifesting in the rare bullous form. Case: A 4-month-old Filipino male presented with multiple bullae on the head, trunk, and extremities after applying chamomile oil. Biopsy of the skin demonstrated numerous mast cells, confirming the diagnosis of bullous mastocytosis. The patient was treated with oral antihistamines and corticosteroids, which was followed by a good response. Conclusion Diagnosis of diffuse cutaneous mastocytosis may be challenging due to its rarity. Proper management requires preventive measures, symptomatic treatment, as well as communication of prognosis with the stakeholders.
Mastocytosis, Cutaneous

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

Mastocytosis is characterized by an accumulation of mast cells in various organs, most frequently in the skin. A solitary mastocytoma is a clinical variant of cutaneous mastocytosis. It is defined as a localized collection of mast cells in the skin without evidence of extracutaneous organ involvement. Here we report on a 2-year-old female patient presenting with Solitary erythematous bulla on her lower back. The patient had a history of spinal tap on the lower back for evaluation of meningitis at 5 months of age, which resulted in trauma at the site. Histopathology showed mast cells infiltrating the papillary and reticular dermis and metachromatic purple cytoplasmic granules seen with Giemsa staining. As a result, the patient was diagnosed with a solitary bullous mastocytoma and administered antihistamine. The patient showed complete remission at 3 months. Herein, we report a rare case of solitary bullous mastocytoma occurring at a trauma site.
Azure Stains ; Child, Preschool ; Cytoplasmic Granules ; Dermis ; Female ; Humans ; Mast Cells ; Mastocytoma* ; Mastocytosis ; Mastocytosis, Cutaneous ; Meningitis ; Skin ; Spinal Puncture*