Maculopapular Cutaneous Mastocytosis Research Articles

Standardized indolent systemic mastocytosis evaluations across a health care system: implications for screening accuracy

AbstractTimely diagnosis of systemic mastocytosis (SM) remains challenging because of care heterogeneity. We implemented a standardized approach for SM screening and diagnosis using a novel health care system–wide international screening registry. A retrospective analysis assessed rates of SM, cutaneous mastocytosis (CM), and molecular diagnoses before and 2 years after care standardization. The accuracy of individual and combined SM screening tests, basal serum tryptase (BST) ≥11.5 and ≥20.0 ng/mL, REMA ≥2, monomorphic maculopapular CM (MPCM), and elevated BST based upon tryptase genotype, was analyzed. Tryptase genotyping and high-sensitivity KIT p.D816V testing increased substantially 2 years after care standardization. SM diagnoses doubled from 47 to 94, and KIT p.D816V molecular diagnoses increased from 24 to 79. Mean BST and KIT p.D816V variant allele frequency values were significantly lower in patients diagnosed after standardization. Hereditary-alpha tryptasemia prevalence was increased in SM before care standardization (4/30 [13.3%]) but reflected the general population prevalence 2 years later at (5/76 [6.6%]). Elevated BST based upon genotype and BST ≥11.5 ng/mL had the highest sensitivities at 84.2% and 88.3%, respectively. The presence of monomorphic MPCM, elevated BST based upon tryptase genotype, and the combination of REMA ≥2 with elevated BST based upon tryptase genotype had specificities >90%. BST >20.0 ng/mL had low sensitivity and specificity and was not required to establish any indolent SM (ISM) diagnosis. Care standardization increased SM diagnosis rates, particularly in patients with low BSTs. Stratifying BST based upon genotype had the best overall sensitivity and specificity of any ISM screening test and improved the REMA score specificity.

Cutaneous mastocytosis and allergic diseases in children: A cross-sectional study

BACKGROUND: Mastocytosis is a heterogeneous group of diseases characterized by abnormal accumulation of clonal mast cells in one or more organs. Comorbidities in patients with mastocytosis include IgE-dependent allergies, psychiatric or psychological disorders, and vitamin D deficiency. Despite the clinical similarities between allergies and mastocytosis, only a few European studies have considered these comorbidities.
 AIM: To analyze the frequency of concomitant-allergic diseases in children with cutaneous mastocytosis.
 MATERIALS AND METHODS: Data of 248 children aged 6 months to 17 years who were diagnosed with cutaneous mastocytosis and received outpatient treatment and observation at the Moscow Scientific and Practical Center for Dermatovenereology and Cosmetology between March 2022 and June 2023 were analyzed. Serum levels of total and allergen-specific IgE were analyzed in children with and without allergic diseases. In addition, a positive history of allergy was analyzed in close relatives of children with cutaneous mastocytosis.
 RESULTS: Every third child (36.7%) with cutaneous mastocytosis had a concomitant allergic disease. Relatives of 27.4% of the examined children had allergic diseases. The process was significantly more often accompanied by allergic diseases in children with mastocytomas than in those with maculopapular cutaneous mastocytosis (χ2=45.46; p=0.001). The level of total IgE was not a statistically significant sign of the presence of allergic diseases in cutaneous mastocytosis (χ2=1.161; p=0.3). Allergen-specific IgE was detected in 47.2% of the children with allergic diseases. Among children without signs of food allergy and pollinosis, asymptomatic low and moderate sensitization to any plant product and birch was detected in 26.5%. Sensitization to respiratory allergens was found in 8% of children with cutaneous mastocytosis without allergic diseases.
 CONCLUSIONS: In Russia, this study demonstrated for the first time a high incidence of allergic diseases in children with cutaneous mastocytosis. The results showed that all clinical forms of mastocytosis in children, including cutaneous mastocytosis, should be subjected to interdisciplinary observation and examination. The timely detection of comorbid allergic diseases contributes to the development of individual techniques for the treatment and prevention of complications and anaphylaxis.

Challenges in the Diagnosis of Cutaneous Mastocytosis.

Mastocytosis is characterized by an accumulation of clonal mast cells (MCs) in tissues such as the skin. Skin lesions in mastocytosis may be clinically subtle or heterogeneous, and giving the correct diagnosis can be difficult. This study compiles personal experiences together with relevant literature, discussing possible obstacles encountered in diagnosing skin involvement in mastocytosis and cutaneous mastocytosis (CM). The nomenclature of the term "CM" is ambiguous. The WHO classification defines CM as mastocytosis solely present in the skin. However, the term is also used as a morphological description, e.g., in maculopapular cutaneous mastocytosis (MPCM). This is often seen in systemic, as well as cutaneous, mastocytosis. Typical CM manifestations (MPCM), including mastocytoma or diffuse cutaneous mastocytosis (DCM), all share a positive Darier's sign, and can thus be clinically recognized. Nevertheless, distinguishing monomorphic versus polymorphic MPCM may be challenging, even for experienced dermatologists. Less typical clinical presentations, such as MPCM with telangiectatic erythemas (formerly called telangiectasia macularis eruptiva perstans), confluent, nodular or xanthelasmoid variants may require a skin biopsy for histopathological confirmation. Because MC numbers in CM have a large overlap to those in healthy and inflamed skin, detailed histopathological criteria to diagnose mastocytosis in MPCM are needed and have been proposed. D816V KIT mutational analysis in tissue is helpful for confirming the diagnosis. Biomarkers allow the prediction of the course of CM into regression or evolution of the disease. Further diagnostic measures should screen for concomitant diseases, such as malignant melanoma, and for systemic involvement. Whereas in typical cases the diagnosis of CM may be uncomplicated, less typical manifestations may require specific investigations for making the diagnosis and predicting its course.

MACULOPAPULAR CUTANEOUS MASTOCYTOSIS HARBORING A KIT MUTATION (ASP419DEL): A CASE REPORT

A 2-year-old, male patient presented with an 18-month history of scattered, brown macules and nodules up to 2 cm in size on his trunk and extremities. These macules were accompanied by pruritus and were positive for Darier's sign. A skin biopsy of a brown macule on the left thigh revealed a dense accumulation of CD117-positive, round or oval cells with amphophilic cytoplasm within the upper to middle dermis. The patient was otherwise healthy and had normal laboratory and imaging test results. Sequence analysis of genomic DNA from a skin biopsy demonstrated the presence of an Asp419del mutation in exon 8 of the KIT gene. Based on these findings, maculopapular cutaneous mastocytosis (MPCM) was diagnosed. The patient received H 1-antihistamine. Although the pruritus resolved, the brown macules remained for one year after the initial treatment. To the best of our knowledge, only three cases of cutaneous mastocytosis (CM) with an Asp419del mutation, including the present case, have been reported in the Japanese literature to date; moreover, while the previous two cases were of DCM, the present case was the first instance of MPCM. Normally, the symptoms of childhood-onset MPCM are dormant until puberty. However, a recent study reported that many MPCM patients may experience persistent or exacerbated symptoms. The present study therefore evaluated 53 Japanese cases of childhood onset MPCM with a KIT gene mutation and discussed the patients' clinical outcomes.

High-frequency ultrasonography: one of the modern imaging diagnostic methods in dermatology. Authors' own experience and review.

High-frequency ultrasonography (HFUS) has emerged as a non-invasive and cost-effective diagnostic tool for evaluating the outcomes of dermatological therapeutic procedures. This manuscript presents a comprehensive collection of sonographic images depicting cutaneous lesions associated with various dermatoses, including verruca vulgaris, epidermoid cyst, maculopapular cutaneous mastocytosis and lichen sclerosus et atrophicus. Drawing from an extensive review of the existing literature and supported by empirical observations, the study highlights key sonographic attributes observable in both normal and pathological skin variants. It has been demonstrated that individual skin lesions exhibit distinct characteristics on HFUS. Furthermore, ultrasonographic examination has proven to be valuable for the objective assessment of disease severity. Additionally, the study contributes to a deeper understanding of HFUS as a valuable tool in dermatological diagnostics.

The role of heredity in cutaneous mastocytosis and C-KIT gene mutation

Introduction. Mastocytosis is a rare disease associated with the proliferation of clonal mast cells in the skin and other organs and systems. In the last decade, studies have appeared on the role of genetic factors in the development of the disease. According to their results, the mode of inheritance of mastocytosis was determined to be autosomal dominant with incomplete penetrance of the gene. Aim. To analyze the frequency of familial cases of mastocytosis and describe a familial case of monomorphic type maculopapular cutaneous mastocytosis (monoPPCM). Results. A family history was present in 6.7% of 341 children with mastocytosis. The article presents a description of the clinical, laboratory and instrumental features of monoPPCM in cousins (paternal kinship). The course of mastocytosis in a patient with the KIT D816V mutation in the peripheral blood was more severe than in her cousin without the mutation. Conclusion. The family case of monoMPCM presented in the article demonstrated the need for careful examination and dynamic monitoring of children with this pathology. The diagnosis of monomorphic (“adult”) type of MPCM is associated with a long course and the risk of developing systemic mastocytosis. Determining KIT mutations is necessary not only for prognosis, but also for developing a strategy for monitoring and treating the patient.

Current Challenges in the Diagnosis of Pediatric Cutaneous Mastocytosis

Pediatric mastocytosis is mostly a cutaneous disease classified as cutaneous mastocytosis (CM), which is characterized by mast cell (MCs) accumulation in the skin and the absence of extracutaneous involvement. Based on the morphology of skin lesions, CM can be divided into three major forms: maculopapular CM (MPCM), diffuse CM (DCM) and mastocytoma of the skin. A positive Darier’s sign is pathognomonic for all forms of CM. MPCM is the most common form, presenting with red-brown macules or slightly raised papules. Mastocytoma is characterized by solitary or a maximum of three nodular or plaque lesions. DCM is a rare, severe form which presents as erythroderma, pachydermia and blistering in the infantile period of the disease. CM is associated with MC mediator-related symptoms, most commonly including pruritus, flushing, blistering, diarrhea and cramping. Anaphylactic shock occurs rarely, mainly in patients with extensive skin lesions and a significantly elevated serum tryptase level. Childhood-onset MPCM and mastocytoma are usually benign diseases, associated with a tendency for spontaneous regression, while DCM is associated with severe mediator-related symptoms, an increased risk of anaphylaxis and, in some cases, underlying systemic mastocytosis (SM). In contrast to adults, SM is a rare finding in children, most commonly presenting as indolent SM. However, advanced SM sporadically occurs.

Clinician awareness of the risk of anaphylaxis in patients with cutaneous mastocytosis.

The risk of anaphylaxis in maculopapular cutaneous mastocytosis (otherwise known as urticaria pigmentosa) is thought to be approximately 15%. Our survey of British Association of Dermatologists members elicited 40 responses: in patients with normal tryptase levels, adrenaline autoinjectors were prescribed for 10% of adults and 12% of children, increasing to 28% and 30% in those with raised tryptase. Of the 40 respondents, 95% felt a guideline would be beneficial. Thus, we propose a call for a guideline to assist clinicians with management of anaphylaxis risk in such patients, given the rarity of this condition.

Cutaneous Lesions of Mastocytosis: Mast Cell Count, Morphology, and Immunomolecular Phenotype.

Mastocytosis is a condition characterized by accumulation of clonal mast cells (MCs) that often involves the skin. Pathologists are often challenged with skin biopsies with a question of cutaneous lesions of mastocytosis (CLM) including cutaneous mastocytosis, mastocytosis in the skin, or systemic mastocytosis. The histopathological criteria for CLM remain poorly defined due to heterogeneity of the published literature and the lack of comparative prospective studies. MC count is greatly influenced by detection and counting techniques, criteria for viable MCs used, anatomical location biopsied, and the dermal level that is analyzed. Although MC numbers in CLM can be significantly higher compared with healthy controls and a patient with other inflammatory skin diseases, in some instances, considerable overlap exists. Based on the largest studies published, it is suggested that a number of MCs between 75 and 250 MCs/mm 2 are a range in which CLM should be considered and, above 250 MC/mm 2 , a diagnosis of CLM can be made. A recent study showed a high specificity of >95% of a MC count >139 MC/mm 2 compared with patients with other inflammatory skin diseases. Noteworthy, the total number and percentage of MCs is significantly higher in children compared with adults, particularly in polymorphic maculopapular cutaneous mastocytosis. In difficult cases, ancillary techniques such as D816V mutation analysis on formalin-fixed paraffin-embedded tissue have a high sensitivity and specificity. There is no enough evidence that immunohistochemistry of CD25, CD2, or CD30 has any additional value in the diagnosis, subtyping, or clinical course of mastocytosis.

CPC06 Congenital urticaria pigmentosa mistaken for nonaccidental injury

Abstract A male infant presented to his general practitioner for a routine 6-week check. His parents reported the presence of tan–brown lesions since birth. The marks were uniform in colour, were present on the trunk, scalp and face, and were not overlying bony prominences. There was concern that these lesions represented bruising as a manifestation of nonaccidental injury (NAI), and urgent paediatric review was arranged. He was admitted for investigation of potential NAI, and dermatology consultation was sought. On examination, scattered reddish brown-to-tan macules and papules were noted on the torso and limbs, not overlying bony prominences. Darier sign was negative, although some reactive cutis marmorata was appreciable on the trunk following rubbing of multiple lesions. A diagnosis of urticaria pigmentosa (UP), or cutaneous mastocytosis, was made clinically. Skin biopsies demonstrated an infiltrate of spindled and round mast cells and scattered eosinophils within the superficial and mid-dermis, with immunohistochemistry positive for CD117, consistent with UP. Blood tests during admission showed a normal complete blood count and coagulation screen (including von Willebrand factor), normal renal and liver function, normal lactate dehydrogenase, normal immunoglobulins and normal mast cell tryptase. Cranial ultrasound and liver ultrasound were normal. Mastocytosis is a spectrum of disease characterized by pathological accumulation of mast cells in tissues, including skin, bone marrow and the gastrointestinal tract. Cutaneous mastocytosis can be further classified as maculopapular cutaneous mastocytosis, also known as UP, diffuse cutaneous mastocytosis and localized cutaneous mastocytomas. With UP, children typically present in the first 2 years of life with multiple reddish-brown macules, papules and/or plaques distributed anywhere on the body, most commonly the trunk. In darkly pigmented skin, lesions may be hyperpigmented and erythema less appreciable. Darier sign, a transient urticarial response upon gentle rubbing of the skin, is classic and supportive of diagnosis, although it is not always demonstrable. UP has rarely been reported to be misdiagnosed as NAI. Other ‘bruising’ mimics include disorders of coagulation, Valsalva petechiae, vasculitis, acute haemorrhagic oedema, incontinentia pigmenti, phytophotodermatitis, coin rubbing, spooning, cupping, Mongolian spots, morphoea, neuroblastoma and ink stains, some of which may be unfamiliar to paediatricians or dermatologists. Dermatologists have a crucial role in recognizing cutaneous manifestations of NAI in children, which commonly includes bruising, particularly in infants who are not yet mobile. While consideration of NAI is important in all children presenting for medical care, this case highlights the importance of considering underlying dermatoses to avoid unwarranted distress and unnecessary investigations.

Pathomorphology of cutaneous mastocytosis

Introduction. Mastocytosis as a result of mast cell infiltration of the skin and other organs develops at any age. The relevance of this work is determined by the lack of systematic data on the pathomorphological features of the clinical forms and types of cutaneous mastocytosis, defined by the Consensus European-American Mastocytosis Group and the WHO classification in 2016. The variability of dermatological clinical manifestations in children and adults, the difficulties in interpreting laboratory tests create a problem for verifying the diagnosis and further treatment. The aim. To determine the main pathohistological features of clinical forms and types of cutaneous mastocytosis. Material and methods. The article includes data from patients who were treated and monitored at the Moscow Scientific and Practical Center of Dermatovenereology and Cosmetology in 2019–2022. Results. The literature and own data on the characteristic pathomorphological patterns that are important for the diagnosis of mastocytosis with skin lesions in children and adults are systematized. The pathological substrate of lesions in diffuse cutaneous mastocytosis and mastocytoma was a massive infiltrate of mast cells in the papillary and reticular layers of the dermis. The histological picture in the monomorphic type of maculopapular cutaneous mastocytosis (MPCM) in children was characterized by a relatively lower density of mast cell infiltration of the papillary dermis compared to other clinical forms of mastocytosis. Also, in children, the density of mast cells in the affected skin was significantly higher compared to adults. In addition, in adults with PPCM, the papillary dermis was less infiltrated with mast cells. This confirms the opinion that the monomorphic type of MPCM in children is phenotypically similar to MPCM in adults. Conclusions. Further prospective follow-up of patients may allow conclusions to be drawn about the prognostic value of pathological examination in mastocytosis in adults and children.

Mastocytosis in children

Mastocytosis in children is arare disease characterized by an abnormal accumulation of tissue mast cells. Mastocytosis in children presents with typical skin alterations that are classified as maculopapular cutaneous mastocytosis, diffuse cutaneous mastocytosis, or mastocytoma. Some patients also develop mast cell mediator symptoms, such as pruritus, flush, and anaphylaxis. In many children, the disease is characterized by abenign and usually self-limiting course; systemic mastocytosis with extracutaneous involvement and achronic or progressive course is found only rarely. Therapeutically, H1 antihistamines are primarily used on an as-needed basis or as continuous treatment, depending on the severity. Children, parents and caregivers should be thoroughly educated about the clinical picture and possible trigger factors of mast cell mediator release. For children with extensive skin alterations and severe symptoms, the prescription of an epinephrine auto-injector is recommended for emergency treatment.

Congenital cutaneous mastocytosis mistaken for non-accidental injury.

A previously well male infant presented to his general practitioner (GP) for his routine 6-week check. His parents reported the presence of tan-brown lesions since birth. The marks were uniform in color, were present on the trunk, scalp, and face, and were not overlying bony prominences. The GP was concerned that these lesions represented bruising as a manifestation of non-accidental injury (NAI), and arranged an urgent review at our pediatric department. Following assessment by the pediatric team he was admitted for investigation of potential NAI, and dermatology consultation was sought. On examination, scattered reddish brown to tan macules and papules were noted on the torso and limbs, not overlying bony prominences (Figure 1A, B). Darier's sign was negative, although some reactive cutis marmorata was appreciable on the trunk following the rubbing of multiple lesions. A diagnosis of urticaria pigmentosa (UP), now known as maculopapular cutaneous mastocytosis (CM), a form of CM, was made clinically. Skin biopsies demonstrated an infiltrate of spindled and round mast cells and scattered eosinophils within the superficial and mid dermis, with immunohistochemistry positive for CD117, consistent with CM (Figure 1C–E). Blood tests during admission showed a normal complete blood count and coagulation screen (including von Willebrand factor), normal renal and liver function, normal lactate dehydrogenase, normal immunoglobulins, and normal mast cell tryptase. Cranial ultrasound and abdominal ultrasound (including liver and spleen) were normal. Mastocytosis is a spectrum of disease characterized by the pathologic accumulation of mast cells in tissues, including skin, bone marrow, and the gastrointestinal tract. The World Health Organisation has outlined three variants: CM, systemic mastocytosis, and mast cell sarcoma. CM can be further classified as maculopapular CM, also known as UP; diffuse CM; and localized cutaneous mastocytomas.1 Pediatric CM is regarded as a benign condition limited to skin, most commonly presenting as UP, which usually spontaneously regresses in puberty.2 In contrast, adult-onset mastocytosis is more often associated with systemic involvement, a persistent course, and activating mutations of the KIT gene.1 With UP, children typically present in the first two years of life with multiple reddish-brown macules, papules, and/or plaques distributed anywhere on the body, most commonly the trunk. In darkly pigmented skin, lesions may be hyperpigmented and erythema less appreciable. Darier sign, a transient urticarial response upon gentle rubbing of the skin, is classic and supportive of the diagnosis, though not always demonstrable. Treatment with antihistamines can be helpful.3 UP has rarely been reported to be misdiagnosed as NAI.4, 5 Other ‘bruising’ mimics include disorders of coagulation, Valsalva petechiae, vasculitis, acute hemorrhagic edema, incontinentia pigmenti, phytophotodermatitis, coin rubbing, spooning, cupping, Mongolian spots, morphea, neuroblastoma, and ink stains, some of which may be unfamiliar to pediatricians or dermatologists.5 CM can be differentiated from bruising by the typically monomorphic appearance; the persistence of lesions with very gradual resolution; the development of new lesions without trauma; the presence of lesions on any part of the body, not specifically overlying bony prominences; the presence of itch; and the presence of Darier sign. Dermatologists have a crucial role in recognizing cutaneous manifestations of NAI in children, which commonly includes bruising, particularly in infants who are not yet mobile.4 While consideration of NAI is important in all children presenting for medical care, this case highlights the importance of considering underlying dermatoses to avoid unwarranted distress and unnecessary investigations. Written informed consent was obtained from the patient's parent. None.

Mastocytosis: retrospective analysis of maculopapular cutaneous form

Introduction. The article presents the data of a retrospective analysis of the debut and clinical manifestations of the types of maculopapular cutaneous mastocytosis (МPCM) in 96 children, and the frequency of non-regression of skin rashes with age in 33 adults. Aim. To conduct a retrospective analysis of the onset, clinical manifestations and dynamics of maculopapular cutaneous mastocytosis (MPCM). Materials and methods. Outpatient records of 96 children and 33 adults, who were treated and monitored at the Moscow Scientific and Practical Center of Dermatovenereology and Cosmetology, were statistically analyzed. Results. Monomorphic type of MPCM was diagnosed in 28 (29.2%) patients, polymorphic – in 68 (70.8%) patients. In 92.6% of children with a polymorphic type and in 35.7% with a monomorphic type, the rash debuted at the age of two years. The clinical picture of the monomorphic type was dominated by multiple small brown or yellow-brown spots. Rashes in the polymorphic type were spread, represented by brown or reddish-brown spots, papules, plaques ranging in size from several millimeters to several centimeters. The positive phenomenon of Unna-Darier was determined in 82.3% of cases. In patients with polymorphic type, the general population level of tryptase (<11.4 µg/l) was determined significantly more often than in patients with monomorphic type (p < 0.05). Elevated tryptase level was found in 53.6% of children and 69.7% of adults with monomorphic rashes. Pruritus was the most common cutaneous symptom, occurring in 49.0% of children. Bullous eruptions developed only in patients with polymorphic type. The most frequently reported systemic manifestations were gastrointestinal symptoms and headaches. Conclusions. The obtained results suggest that patients with early onset of the disease with polymorphic and variable lesions show a more favorable outcome.

MPN-453 Clinical Presentation and Diagnosis of Advanced Systemic Mastocytosis (AdvSM) in a Community Oncology Setting.

Advanced systemic mastocytosis (AdvSM) is a rare hematologic neoplasm with poor overall survival that is characterized by an accumulation of neoplastic mast cells in various tissues and organs. Although driven by KIT D816V in 95% of cases, the heterogeneous symptom presentation of AdvSM patients may contribute to a lengthy diagnostic journey. To characterize the symptomology of AdvSM patients reported by oncologists at the initial patient encounter in a community-based setting. This was a cross-sectional survey study conducted from August-November 2021. Community oncologists affiliated with Integra Connect were asked to complete a structured eCRF on referral patterns, patient signs and symptoms at initial visit, approach to diagnosis, and ongoing disease management for patients they diagnosed or treated with AdvSM in the prior 24 months. Community oncology practices affiliated with Integra Connect. Twenty-eight community oncologists provided data on 55 AdvSM patients. Twenty-one had managed 2 or more AdvSM patients in the previous 3 years. Mean patient age was 56 years; 55% were female. Comorbid conditions included cardiovascular disease (38%), diabetes (38%), GERD (29%), and COPD/asthma (25%). AdvSM patients were referred to participating oncologists by primary care physicians (33%), immunologists (28%), dermatologists (11%), another oncologist (11%), rheumatologists (7%), and other specialists (9%). 93% of oncologists reported bone marrow biopsy as critical in making an AdvSM diagnosis and indicated that elevated serum tryptase (64%) and detection of KIT D816V (56%) were also important factors in making the AdvSM diagnosis. Cutaneous, gastrointestinal (GI), neuropsychiatric, and musculoskeletal signs and symptoms were common. The most common symptoms reported were pruritis (65%), maculopapular cutaneous mastocytosis (62%), flushing (60%), nausea (58%), and bloating and diarrhea (52%). Allergic reactions (40%), anaphylaxis (24%), dyspnea (35%), anxiety (49%), and fatigue (62%) were also frequently reported at the initial visit. This study shows that AdvSM patients receiving care in a community-based oncology setting are referred to oncologists from a variety of different specialties with a range of disease-related symptoms and multitude of comorbid conditions. Improving awareness of the clinical presentation and diagnostic strategies for AdvSM patients may expedite disease recognition, diagnosis, and treatment initiation.

33654 Maculopapular cutaneous mastocytosis: Recognizing the signs of systemic involvement

Maculopapular cutaneous mastocytosis (MPCM) is a form of cutaneous mastocytosis that can be associated with systemic involvement and elevated risk of anaphylaxis, osteoporosis, bleeding diatheses, and hematologic malignancies. We present a case of MPCM in a patient who had been undiagnosed for nearly 10 years, highlighting the importance of early symptom recognition and treatment in patients with systemic mastocytosis. A 38-year-old woman presented as a new patient to dermatology for 10-year history of persistent itchy, red-brown macular rash largely involving the trunk and proximal extremities.

Acute abdomen due to anaphylactic intestinal edema associated with systematic mastocytosis: a case report

BackgroundAmong various anaphylactic conditions resulting in acute abdomen, mast cell activation disorders, although rare, are included in the differential diagnosis.Case presentationThis report describes a 63-year-old Caucasian man who was brought to the emergency room with sudden onset abdominal pain, vomiting, and diarrhea, with breathing difficulty, and with facial swelling after quarrelling with an acquaintance. Computed tomography showed edematous and swollen intestines, consistent with splenomegaly. Physical findings included maculopapular cutaneous mastocytosis. He also had a long history of repeated episodes of anaphylaxis requiring occasional epinephrine auto-injector administration; however, the precise cause of anaphylaxis was previously undetermined. Blood tests showed high serum concentrations of soluble IL-2R and tryptase, suggesting mast cell-related disease. Subsequent biopsies of his bone marrow and cutaneous rash confirmed the diagnosis of systemic mastocytosis (SM).ConclusionSM was diagnosed in a patient with acute abdomen who visited the emergency room.

Histopathological characteristics are instrumental to distinguish monomorphic from polymorphic maculopapular cutaneous mastocytosis in children.

BackgroundMastocytosis is characterized by the accumulation of mast cells (MCs) in the skin or other organs, and can manifest at any age. A significant number of paediatric mastocytosis cases persist after puberty. In particular, monomorphic maculopapular cutaneous mastocytosis (mMPCM) is often persistent and associated with systemic mastocytosis. However, clinical differentiation of MPCM from polymorphic (p)MPCM can be difficult.AimTo identify histopathological features that can help to distinguish mMPCM from other subtypes of paediatric mastocytosis.MethodsThis was a retrospective study using skin biopsies from patients with any subtype of mastocytosis. The localization and density of the MC infiltrate, MC morphology and expression of aberrant markers were evaluated and correlated with clinical characteristics.ResultsIn total, 33 biopsies were available for evaluation from 26 children [(10 with mMPCM, 5 with mastocytoma, 3 with diffuse cutaneous mastocytosis (DCM), 8 with pMPCM)] and 7 adults with MPCM. The MC number was increased in all patients, but was higher in children than adults (P < 0.01). The presence of mMPCM was associated with sparing of the papillary dermis from MC infiltration, whereas MC density in the papillary dermis was highest in pMPCM and DCM (P < 0.01). The positive predictive value of the presence of a reticular MC infiltrate for mMPCM was 72.7% (95% CI 51.4–87.0), and the negative predictive value was 83.3% (95% CI 42.2–97.2). There were no relevant differences in the expression of CD2, CD25 or CD30 between the different subtypes.ConclusionSkin histopathology might enhance the phenotypical differentiation of mMPCM from other subtypes in children, thereby increasing the accuracy of one's prognosis.

Mastocytosis. General concepts, view on patient management, examples of clinical course of the disease

Background. Mastocytosis is a disease characterized by the presence of mast cells in various organs. The skin is affected most often. Almost every patient diagnosed with mastocytosis has skin lesions. This disease is characterized by redness, itching, abdominal pain, diarrhea, musculoskeletal pain, hypotension. These features result from the release of the mast cell mediator and its infiltration into the target organs. Materials and methods. This article describes the symptoms and signs of each and systemic mastocytosis, the principles of their diagnosis, based on recently published іnternational recommendations. Results. According to the 2016 World Health Organization classification, mastocytosis can be divided into cutaneous mastocytosis, systemic mastocytosis and mast cell sarcoma. Cutaneous mastocytosis is divided into three subtypes: maculopapular cutaneous mastocytosis, diffuse cutaneous mastocytosis and cutaneous mastocytoma. Permanent telangiectasia of the macular eruptive form is no longer considered a separate unit. Systemic mastocytosis, in turn, is also divided into indolent, smoldering, aggressive and associated with hematological tumors. Conclusions. Cutaneous manifestations of mastocytosis may vary with age. The classification of cutaneous mastocytosis has recently been updated. As a rule, in patients with mastocytosis in childhood the disease occurs as cutaneous mastocytosis and spontaneously regresses during puberty. On the contrary, in adult patients, despite skin lesions, systemic lesions are often observed, and the course of the disease is usually chronic. That is, patients of any age can be affected. The article describes the causes and pathogenesis of mastocytosis with an overview of clinical features, approach to diagnosis and therapy depending on age and severity of the disease. Clinical cases for visual acquaintance with a clinical picture of various forms of mastocytosis are resulted.

Acute increases in total serum tryptase unassociated with hemodynamic instability in diffuse cutaneous mastocytosis

Mastocytosis is associated with an accumulation of mast cells (MCs) in 1 or more organ systems. It is classified into the following 2 major variants: cutaneous mastocytosis (CM) and systemic mastocytosis (SM). CM is characterized by mastocytosis limited to the skin, whereas SM involves MC accumulation in at least 1 noncutaneous organ system with or without skin involvement. In pediatric patients, CM accounts for approximately 90% of all cases. 1 Adkinson Jr, NF Bochner BS Burks AW Busse WW Holgate ST Lemanske Jr, RF et al. Mastocytosis. Middleton's Allergy: Principles and Practice. 8th ed. Elsevier Health Services, 2014 Google Scholar Subtypes include maculopapular cutaneous mastocytosis, formerly termed urticaria pigmentosa, diffuse cutaneous mastocytosis (DCM), and mastocytoma.