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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.)

Mastocytosis is a rare disease characterised by expansion and collection of clonal mast cells in various organs including the skin, bone marrow, spleen, lymph nodes and gastrointestinal tract. The prevalence of mastocytosis has been estimated to be one in 10 000, while the estimated incidence is one per 100 000 people per year. Cutaneous mastocytosis is classified into (i) maculopapular cutaneous mastocytosis, also known as urticaria pigmentosa; (ii) diffuse cutaneous mastocytosis; and (iii) mastocytoma of the skin. In adults, cutaneous lesions are usually associated with indolent systemic mastocytosis and have a chronic evolution. Paediatric patients, on the contrary, have often cutaneous manifestations without systemic involvement and usually experience a spontaneous regression. Diagnosis of cutaneous mastocytosis may be challenging due to the rarity of the disease and the overlap of cutaneous manifestations. This short review describes pathogenesis and clinical aspects of cutaneous mastocytosis with a focus on diagnosis and currently available therapies., (© 2020 The Australasian College of Dermatologists.)

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 a rare disorder characterized by an abnormal systemic proliferation of mast cells. In this condition, various triggers can induce either cutaneous histamine release, resulting in rash, or generalized histamine release, resulting in symptomatic hypotension, syncope, or in its severest form, an anaphylactoid reaction resistant to most resuscitative measures. Many anesthetic agents and adjuncts are known potential triggers, and patients who require surgery or procedures under anesthesia must be managed carefully. In this review, we describe the safe use of general anesthesia for electroconvulsive therapy in a patient with urticaria pigmentosa and discuss the association between psychiatric disorders and mastocytoses.

Mastocytosis includes a spectrum of diseases characterized by abnormal mast cell infiltration in various organs, which can lead to mast cell mediator release and immediate hypersensitivity. We review anesthetic challenges presented by a 6-year-old girl with a history of mast cell mediator release because of the urticaria pigmentosa variant of cutaneous mastocytosis, factor VII deficiency, increasing episodes of urinary tract infections, and pyelonephritis. She underwent spine magnetic resonance imaging, subsequent lumbar laminectomy for fatty filum release, and a cystourethroscopy. Perioperative management included factor VII desensitization, avoidance of triggers, minimizing histamine-releasing medications, mast cell stabilization, and preparation for potential immediate hypersensitivity.

From a dermatological aspect, it posed a considerable challenge the skin-limited form of mastocytosis, urticaria pigmentosa and indolent systemic mastocytosis (ISM) with cutaneous lesions. Despite the favourable prognosis, lifelong dermatological control is needed, during which the average symptomatic therapy does not always seem adequate. We report here the case of a female ISM patient with recurrent cutaneous symptoms that impaired her quality of life, with a follow-up time of 27 years. During this long follow-up period, the cutaneous lesions could be controlled by antihistamines, leukotriene antagonists, glucocorticoids, local immunosuppressants or local UV radiation for only relatively short periods. Imatinib mesylate was, therefore, introduced in an attempt to control the cutaneous lesions. Tyrosine kinase inhibition is an unusual dermatological therapeutic option. This case illustrates that imatinib mesylate was a good choice with which to achieve a reduction of the skin lesions in this KIT D816V mutation-negative disease: it led to a temporary appreciable improvement of the patient's quality of life.

Mastocytosis is a rare disorder that shows accumulation of mast cells in tissues. Atypical clinical features may mimic impetigo, Langerhans cell histiocytosis, and carcinoid syndrome; however, only 1 case of scarring alopecia associated with mastocytosis has been reported. We present the first case of cutaneous mastocytosis associated with congenital alopecia areata in a 3-year-old Korean girl. This case showed an atypical clinical presentation of congenital alopecia areata, but histopathological results confirmed the diagnosis of cutaneous mastocytosis.

Unlabelled: PRESENTING SIGNS: Three Devon Rex cats were presented with multiple erythematous papules, occasionally associated with crusting and hyperpigmentation, with a linear distribution on the head, neck, chest and abdomen. One cat also had multifocal alopecia with hyperpigmentation on the dorsum., Diagnosis and Treatment: Clinical and histopathological features were suggestive of papular eosinophilic/mastocytic dermatitis (urticaria pigmentosa-like dermatitis). In all cases, dermatophytosis was diagnosed: in cases 1 and 2 there was histopathological evidence of dermatophytosis, while fungal culture was positive for Microsporum canis in cases 2 and 3. In all cats, lesions disappeared following antifungal treatment., Clinical Significance: Papular eosinophilic/mastocytic dermatitis in Devon Rex cats may represent either an atypical presentation of dermatophytosis or a clinical and histological reaction pattern to various diseases, including dermatophytosis and allergic diseases. Clinical differentiation is crucial as there are important implications regarding treatment and, in particular, the use of glucocorticoids, which are contraindicated in cases of dermatophytosis.

Background: Risk indicators of indolent systemic mastocytosis (ISM) in adults with clinical suspicion of ISM without accompanying skin lesions [urticaria pigmentosa (UP)] are lacking. This study aimed at creating a decision tree using clinical characteristics, serum tryptase, and the urinary histamine metabolites methylimidazole acetic acid (MIMA) and methylhistamine (MH) to select patients for bone marrow investigations to diagnose ISM., Methods: Retrospective data analysis of all adults, in whom bone marrow investigations were performed to diagnose ISM, was carried out., Results: In total, 142 patients were included. SM was absent in all 44 patients with tryptase <10 μg/l, in 45 of 98 (46%) patients with tryptase ≥10 μg/l and in 18 of 52 patients (35%) with tryptase >20 μg/l. Above 43 μg/l, all patients had ISM (n = 11). Male gender, insect venom anaphylaxis as presenting symptom, tryptase, MIMA, and MH were independent ISM predictors. If tryptase was ≥10 μg/l, the diagnostic accuracy of MIMA and MH was high (areas under the ROC curve 0.92)., Conclusions: In suspected patients without UP, the ISM risk is very low (if present at all) if tryptase is <10 μg/l. If tryptase is ≥10 μg/l, this risk depends on MIMA and MH, being low if these are normal, but high if these are elevated. Male gender and insect venom anaphylaxis are additional risk indicators. We recommend refraining from bone marrow examinations in suspected patients without UP if tryptase is <10 μg/l. Our results question the reliability of the minor diagnostic World Health Organization criterion of tryptase >20 μg/l., (© 2012 John Wiley & Sons A/S.)

Juvenile xanthogranuloma (JXG) is one of the most common forms of non-Langerhans cell histiocytosis in children. Although it usually presents as a self-limited skin lesion with typical histopathology, JXG can be challenging to diagnose due to an atypical initial presentation with corresponding variable histopathology for different stages of development. We present challenging cases of JXG from Sydney Children's Hospital, collected over 10 years - two with multisystem involvement and concomitant urticaria, one associated with neurofibromatosis, and one case of giant JXG with an initial histopathological challenge. Although JXG has been reported with urticaria pigmentosa, in two of our cases persistent urticaria, in association with JXG is discussed., (© 2011 The Authors; Australasian Journal of Dermatology © 2011 The Australasian College of Dermatologists.)

A few case reports have only been published to date, which show the possible link between mastocytosis and gastroesophageal reflux disease (GERD). Here, we present a 17-month-old boy with urticaria pigmentosa who also suffered from GERD. First skin lesions accompanied by gastrointestinal symptoms (regurgitations, appetite worsening) were noticed at the age of four months. At that time, they were misdiagnosed as symptoms of cow's milk allergy. Despite the cow's milk-free diet, the skin and gastrointestinal symptoms slowly worsened and the patient was referred to us for further diagnostics several months later. Based on the clinical presentation of skin lesions, presence of pruritus and positive Darier's sign, cutaneous mastocytosis was diagnosed; 24-hour pH-metry revealed an increased number of acidic refluxes and biopsy of duodenal mucosa showed numerous mast cells. Taking into account these findings, the gastrointestinal symptoms were supposed to be a manifestation of mastocytosis. Treatment with sodium cromoglycate, cetirizine, ranitidine and probiotics resulted in pruritus alleviation, improvement of appetite and sleeping as well as increase of body weight.

We describe a Finnish boy with megalocornea, urticaria pigmentosa, mild delay in speech and motor development, and slightly dysmorphic facial features. The karyotype and the array-CGH analysis did not reveal any abnormalities. This combination of symptoms has not been reported previously suggesting this might be a new syndrome with an unknown etiology.

A 76-year-old man with a 52-year history of urticaria pigmentosa was found to have an elevated serum tryptase level as well as osteoporosis. Histopathologic alterations of one his skin lesions showed an infiltrate of mast cells. Urticaria pigmentosa patients are at risk for osteoporosis because of elevated heparin and stem-cell factor levels. These patients should be screened with serum tryptase levels and bone density studies to detect osteoporosis, regardless of their age.

Urticaria pigmentosa (UP) is a clinicopathologic term used to describe reddish-brown cutaneous macules and papules, characterized histologically by mast cell infiltration of the papillary and upper reticular dermis and reactive basal hyperpigmentation of the overlying epidermis. Although typically a benign, self-limited disorder of childhood, a significant proportion (up to 30%) of adolescent and adult-onset UP represents cutaneous involvement by underlying systemic mastocytosis (SM). Predicting the course of cutaneous mast cell disease has been limited by a lack of diagnostic and prognostic markers. In patients with SM, neoplastic bone marrow mast cells show aberrant surface expression of CD25. However, whether CD25 expression on cutaneous mast cells is associated with underlying SM is unknown. In this study, we performed a clinicopathologic analysis of 30 adult patients presenting with UP between 1987 and 2007. Cutaneous mast cell infiltration pattern, cytomorphology, density, and CD25 immunoreactivity were correlated with underlying or subsequent SM. On the basis of clinical and pathologic follow-up, 10 of 30 (33%) patients were diagnosed with SM and 20 of 30 (67%) with limited cutaneous mastocytosis (CM). Although cutaneous mast cell density was slightly higher in patients with SM compared to those with limited CM (P=0.047), neither mast cell cytomorphology nor infiltration pattern correlated with underlying systemic disease. However, cutaneous mast cells from all 10 patients with SM (100%) were immunoreactive for CD25, compared to only 5 of 20 (25%) with limited CM (P<0.001). Our findings suggest that immunoreactivity for CD25 in cutaneous mast cells may be useful for stratifying adult patients presenting with UP for additional clinical evaluation.

Background: Mastocytosis represents a wide spectrum of proliferative disorders of mast cells in the bone marrow, skin and/or internal organs. The most common manifestation is urticaria pigmentosa (UP), which is characterized by small or large brown-red maculopapules on the skin. Occasionally, elastic and collagen fibers in the lesions degenerate and result in a lax area of skin termed anetoderma., Methods: We report a 21-year-old male patient with multiple cutaneous anetodermic lesions, present since infancy, at UP sites confirmed with histochemistry., Results: Urinary N-methyl 24-hour histamine levels were elevated, but serum tryptase levels were within normal limits. Radiologic examination of long bones was unremarkable, as well as all other blood results. UP biopsy showed absence of epidermal involvement and increased number of mast cells located perivascularly. There was fragmentation of elastic fibers in the papillary dermis., Conclusions: A patient with multiple cutaneous anetodermic lesions, presented since infancy, led to the diagnosis of UP. Such an association is rare and raises intriguing questions concerning the pathogenesis of anetoderma., (Copyright 2007 S. Karger AG, Basel.)

Mastocytosis is a heterogeneous group of disorders characterized by mast cell hyperplasia in the bone marrow, liver, spleen, lymph nodes, gastrointestinal tract, and skin. We present a patient with malignant mastocytosis of 11 years' duration. This case highlights the cutaneous findings of mastocytosis with systemic involvement, yet the patient maintains a relatively normal lifestyle with only minimal discomfort and only borderline normochromic anemia. Thus his course is not truly that of malignant mastocytosis but of indolent systemic mastocytosis with cutaneous findings of telangiectasia macularis eruptiva perstans (TMEP).

Purpose: To report the anesthetic management of labour pain and Cesarean section in a patient with urticaria pigmentosa at risk for systemic mastocytosis. CLINICAL: A 37-yr-old patient with a history of urticaria pigmentosa and an allergic reaction to a local anesthetic agent was seen in consultation at 36 weeks gestation. She previously tested negative for an allergy test to lidocaine. Recommendations to avoid systemic mastocytosis included: avoidance of histamine-releasing drugs, using lidocaine for labour epidural, and regional anesthesia in case of a Cesarean section. The patient presented at term in labour. Intravenous fentanyl was used for early labour, followed by a combined spinal-epidural. The spinal contained lidocaine and fentanyl, but because of pruritus, the epidural infusion contained lidocaine only. Most likely because of tachyphylaxis to lidocaine, an epidural bolus of lidocaine with epinephrine failed to provide adequate anesthesia for a Cesarean section. The block was supplemented with nitrous oxide by mask, with fentanyl postdelivery. Postoperative pain control was managed with an epidural infusion of lidocaine and fentanyl for three days. The patient was discharged without complications four days postsurgery., Conclusion: Proper allergy testing prior to pregnancy is important to help the management of labour pain and anesthesia for Cesarean section in a patient at risk for systemic mastocytosis.

Purpose: To report a case of peripheral interstitial keratitis in a patient with mastocytosis., Methods: Clinical case description and immunohistologic examination of biopsied ocular tissue., Results: A 22-year-old woman with biopsy-proven urticaria pigmentosa, a subset of mastocytosis, presented with an active peripheral interstitial keratitis with vascularization associated with foreign body sensation and itching. Biomicroscopy of the cornea showed deep corneal inflammatory infiltrates and midstromal vascularization adjacent to a region of superior bulbar conjunctiva, which was mildly chemotic and inflamed. Topical mast cell stabilizers and a short course of topical steroids produced dramatic resolution of the lesion. Biopsy of the erythematous conjunctiva adjacent to the area of corneal inflammation showed the presence of mast cells., Conclusion: This is the first case of corneal inflammatory infiltration in a patient with mastocytosis. Therapy for this condition consists of a combination of topical mast cell stabilizers, topical steroids, and systemic antihistaminic therapy.

The loss of sensitization over time, the involvement of a different pathogenetic mechanism and the poor sensitivity of diagnostic tests have been included among the causes of a non IgE-mediated anaphylaxis triggered by an insect sting. To provide further insight into this topic we describe the case of a patient suffering from urticaria pigmentosa, anaphylactic shock due to a Vespid sting and monosensitive to Polistes dominulus venom, who was previous diagnosed with non-IgE mediated insect sting anaphylaxis in subjects with urticaria pigmentosa. Therefore ultra-rush specific immunotherapy using an acqueous Polistes dominulus venom extract was performed over two mornings until a total dose of 100mcg was reached without any side effects. Presently the patient is undergoing maintenance therapy with a depot Polistes dominulus venom extract at 4-weekly intervals and is free of side effects. In conclusion, despite the high cross-reactivity among the venoms of the various species of Polistes, recent evidence of a selective specificity unique to European Polistes allergens raises the problem of the need to make the American Polistes venom as well as that of Polistes dominulus (a very common insect in Europe) available both for diagnostic and therapeutic purposes. Besides the fact that the presence of urticaria pigmentosa alone could have explained the anaphylactic reaction to the aspecific stimulation triggered by the venom, this case history also demonstrates that omitting to perform skin tests for Polistes dominulus venom would have led to the same misdiagnosis of non IgE-mediated anaphylaxis and served only to further delay commencing specific immunotherapy.

A 64-year-old man was diagnosed as having urticaria pigmentosa in 1998, and treated with PUVA therapy. In January 2002, X-ray imaging revealed osteosclerosis was detected in the systemic bone and bone scintigraphy. A bone marrow aspiration sample was not obtained due to a dry tap. CT scans showed hepatosplenomegaly and mesenteric lymphadenopathy. Myelofibrosis and diffuse mast cell infiltration were revealed by a bone marrow biopsy, and a diagnosis of systemic mastocytosis with severe osteosclerosis and myelofibrosis was made. In October 2003, he was admitted to our hospital because of mid back pain. A neurological examination showed muscle weakness in the upper and lower limbs, sensory disturbance below the level of Th4 and urinary obstruction. T1 and T2 weighted images of MRI demonstrated a high intensity epidural mass lesion extending from the vertebral level of C5 to Th2 and severely compressing the spinal cord. We considered the possibility of the invasion of the spinal canal by the mastocytosis. The patient was treated with interferon alpha-2b (IFN-alpha2b) and prednisolone. Subsequently, the motor and sensory disturbances were gradually alleviated, and spinal MRI confirmed a marked reduction in the size of the epidural tumor. However, the patient became resistant to interferon, and died of multiple organ failure in spite of steroid pulse and cladribine therapies. Multiple organ infiltration by mast cells was revealed at autopsy.

Background: Systemic mastocytosis is a mast cell proliferative disorder affecting many organs that is rarely associated with internal bleeding., Objective: To describe a case of spinal epidural hematoma in a patient with past medical history of urticaria pigmentosa and osteoporosis diagnosed with systemic mastocytosis., Case Report: A 63-year-old woman with urticaria pigmentosa was admitted to hospital for severe back pain after minor trauma. Physical examination showed pain on pressing T12 and L1 spinous processes, bilateral Lasègue sign, absent ankle jerk, and extensor plantar response. Computed tomography disclosed L3 fracture, and magnetic resonance imaging revealed spinal epidural hematoma and T2 hyperintensive scattered vertebral foci that suggested malignancy. The 24-hour urine histamine was very high. Mast cell infiltration was found in bone marrow biopsy. Because power was normal and there was no clinical sphincter disorder, the patient was successfully treated with conservative care., Conclusions: To our knowledge, acute intraspinal epidural hematoma has never been associated with mastocytosis. The hematoma was likely related to the vertebral fracture as well as a hemorrhagic diathesis due to anticoagulants released by local mast cells.

Most cases of urticaria pigmentosa are confined to the skin, but visceral involvement and/or haematological abnormalities have been observed. It is still a matter of debate whether all forms of mastocytosis are true neoplasias or reactive hyperplasias. Familial inheritance of urticaria pigmentosa is rare. We report on a fraternal set with urticaria pigmentosa as part of a systemic mastocytosis. The first patient additionally revealed persistent thrombocytosis and splenomegaly. His brother developed urticaria pigmentosa, intermittent diarrhoea, hepatomegaly and asthma bronchiale associated with trisomy 21 (Down's syndrome). The association of mastocytosis with thrombocytosis has seldom been described. In our patient it preceded the development of systemic mastocytosis. The association with Down's syndrome has not been reported until now.

Mastocytoses are a heterogeneous group of disorders of unknown etiology characterised by the accumulation of mast cells, particularly in the skin. Mastocytosis may be limited to the skin or involve internal organs, especially those playing the lymphoreticular function. We present a case of 9-year-old girl, with a history of maculopapules at the age of two, followed by yellow-brownish, nodular skin lesions. The skin lesions, located on the trunk, neck and face were accompanied by pruritus. The histopathological examination of the node confirmed the diagnosis of mastocytoma. A bone scintigram showed an increased uptake of radiotechnetium around the right coxal region. Application of antihistaminic drugs and phototherapy (UVA) has led to partial remission of skin manifestations of the disease. A long-term follow-up of the child is necessary.

Background: Urticaria pigmentosa (UP) is characterized by dense aggregates of mast cells in the dermis. There is consistent evidence from the literature that mast cells may play a pathogenetic role in the development of neurofibromas and other tumors., Objective: To study the concomitant appearance of UP with neurofibromas and neurofibroma-like neoplasms., Methods: We analyzed 31,752 records of patients examined at the Department of Dermatology in the year 2000, looking for UP and associated neurofibromas and neurofibroma-like neoplasms in persons younger than 18 years., Results: We identified a total of 27 patients suffering from UP, with 16 persons younger than 18 years. One 12-year-old Caucasian boy demonstrated multiple cutaneous mastocytomas consistent with the diagnosis of UP. On his trunk, four café-au-lait spots were found. A cutaneous neurofibroma was confirmed by skin biopsy. Magnetic resonance imaging detected multiple neoplasms located at the nerve roots of the spine, resembling plexiform neurofibromas., Conclusions: There may be a concomitant appearance of UP and neoplasms, with mast cells possibly playing a causative role. The existence of neoplasms, including neurofibromas and neurofibroma-like lesions should be considered when examining UP cases., (Copyright 2003 S. Karger AG, Basel)

The authors report the case of an infant with urticaria pigmentosa who developed infantile fibrosarcoma. The tumor was successfully resected but the skin lesions have persisted. This is the first report of a fibrosarcoma in association with urticaria pigmentosa. A brief review is presented of the available medical literature on associations of solid tumors with mastocytosis.

Mastocytosis is a term used for a group of disorders characterized by abnormal growth and accumulation of tissue mast cells (MC) in one or more organ systems. In patients with systemic mastocytosis (SM) the clinical course may be indolent or aggressive or even complicated by leukemic progression or an associated clonal hematologic non mast cell lineage disease (AHNMD). However, at first presentation (diagnosis) it may be difficult to define the category of disease and the prognosis. We report on a 48-year-old female patient with SM with urticaria pigmentosa-like skin lesions and mediator-related symptoms. She was found to have splenomegaly, a high infiltration grade (MC) in bone marrow biopsies (>30%), mild anemia, and a high serum tryptase level (>500 ng/ml). In addition, she exhibited discrete histologic signs of myeloproliferation in the 'non-affected' marrow and monoclonal blood cells established by C-KIT 2468A-->T mutation (Asp-816-Val) -analysis and HUMARA assay. Despite these findings, however, the clinical course was stable over years and no AHNMD or organ impairment developed. Because of the 'intermediate' clinical signs and absence of progression to aggressive disease, we proposed the term 'smouldering mastocytosis'.

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.