Search

In the last few years, de novo mutations in the GNB1 gene have been found to cause a neurodevelopmental disorder typically characterized by global developmental delay and hypotonia. Only 4 cases of maculopapular cutaneous mastocytosis in children with GNB1 mutations have been reported to date. Here, we describe another case of the condition with concomitant cutaneous mastocytosis., (© 2022 Wiley Periodicals LLC.)

Background/objectives: Urticaria pigmentosa (UP) is the most common form of mastocytosis in children and is associated with systemic signs, symptoms, and triggers. To our knowledge, the effect of UP on children's quality of life has not been studied. The objective of the current study was to characterize the natural history, triggers, and complications of pediatric UP, identify prognostic indicators, and determine its effect on quality of life., Methods: Between 2002 and 2007, children with three or more mastocytomas diagnosed by a pediatric dermatologist were recruited during visits at the Children's Hospital of Wisconsin Dermatology Clinic (Milwaukee, WI). Research visits were conducted every 3 years and telephone interviews yearly. The Children's Dermatology Life Quality Index was administered to subjects 4 years of age and older at enrollment. Laboratory test results were collected for subjects younger than 4 years at enrollment. Subjects were followed until UP resolution or study end in August 2015., Results: The final cohort size was 43 subjects followed for a median of 8.1 years. Twenty-six subjects were followed through study completion. At age 12 years, 6 patients had disease resolution and 14 remained active. Patients who had disease resolution before age 12 years were more likely to be male and had fewer years of age and smaller lesions, fewer affected areas, and earlier onset. Common medications and anesthetics resulted in no serious reactions. Hymenoptera stings occurred in 51%, with no reports of anaphylaxis. No patient reported a severe effect on quality of life, with most indicating mild to no effect., Conclusion: Severe complications are not common with historically identified triggers. Disease does not resolve before adolescence in most children. UP has a minimal effect on quality of life for most children., (© 2017 Wiley Periodicals, Inc.)

Urticaria pigmentosa is the most common manifestation of mastocytosis, with the majority of cases undergoing spontaneous resolution, especially in children. Several reports have documented hematologic malignancies developing in patients with urticaria pigmentosa. We present a 4.5-year-old boy with urticaria pigmentosa who developed Wilms tumor. To our knowledge, coexisting urticaria pigmentosa and Wilms tumor have not previously been described.

A 5-month-old Hispanic boy had a diffuse eruption and massive peripheral eosinophilia. Mastocytosis was diagnosed by skin biopsy and Giemsa stain. Other causes of eosinophilia were ruled out by bone marrow examination and negative cultures. The patient's course improved with antihistamines and the removal of mast cell degranulating agents. Clinicians need to be aware that mastocytosis should be considered in the differential diagnosis of eosinophilia.

Bullous mastocytosis is an unusual expression of mastocytosis typically seen in young children, and many causes of the acute mast cell degranulation with bulla formation have been identified. We report a 6-month-old boy with urticaria pigmentosa and an extensive bullous eruption associated with the ingestion of a nonprescription cough suppressant containing dextromethorphan. The pathogenesis of mastocytosis and the care of patients with this disease are discussed.

Juvenile xanthogranuloma and urticaria pigmentosa are well described in the dermatologic literature. We recently observed a 9-month-old boy with the two diseases occurring concomitantly. This rare combination is described and a brief review of the literature is given.

A 6-month-old infant had bullous lesions on his posterior neck, upper trunk, and extremities for two months prior to admission for fever and shock. He had an elevated white blood cell count with left shift and normal platelet count, but abnormal coagulation studies. He was treated with intravenous antibiotics, crystalloids, fresh-frozen plasma, and pressor agents. A histamine H2 receptor antagonist was started for guaiac-positive nasogastric tube drainage. The patient recovered after four days of treatment. A skin biopsy confirmed mastocytosis. A week later the child passed grossly bloody stools with blood clots. No source of gastrointestinal bleeding was identified by extensive work-up. Blood histamine level measured one day before gastrointestinal bleeding was 16,400 pg/ml (normal 263 +/- 202 pg/ml). The bleeding resolved spontaneously. The patient was maintained on cimetidine. Results of a subsequent bone scan were normal. Shock or gastrointestinal bleeding associated with unusual skin lesions should alert the pediatrician to the possibility of mastocytosis.