Case Of Mastocytosis Research Articles

Clinical and epidemiological features of cutaneous mastocytosis among the pediatric population of Moscow

BACKGROUND: Cutaneous mastocytosis is a rare disease that primarily develops in childhood.
 AIM: This study aimed to determine the clinical and epidemiological characteristics and frequency of detection of cutaneous mastocytosis among children in Moscow.
 MATERIALS AND METHODS: A single-center epidemiological retrospective study was conducted. Data from Form № 12 of the federal statistical observation "Information on the number of diseases registered in patients living in the service area of a medical organization" were used as a statistical source of information. To calculate the incidence rate in intensive indicators per 100 thousand population, data on the population of Moscow for the period 2019–2022 were used.
 RESULTS: Over the period 2019–2022, a gradual trend towards an increase in the number of newly identified cases of cutaneous mastocytosis in children and adolescents in Moscow was revealed. Number of initial applications from children and adolescents (0–17 years old) for this period increased by 4.8 times. The share of cutaneous mastocytosis in the structure of skin diseases and congenital anomalies (malformations) of the skin increases every year. In 2019, for every 1,834 pediatric visits (age category 0–17 years) regarding skin diseases, there was 1 case of mastocytosis; in 2020 the ratio was 1,863:1; in 2021 ― 491:1; in 2022 ― 376:1. Since 2019, there has been an increase in the primary incidence of cutaneous mastocytosis from 3.63 cases per 100,000 child population to 16.61 cases per 100,000 child population in 2022.
 CONCLUSION: The increase in incidence in the pediatric population and the share of cutaneous mastocytosis in the structure of skin diseases in recent years demonstrates the need to generate interest and attention of the medical community to this pathology.

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.

Analisis Perbandingan Dempster Shafer dan Case Base Reasoning Dalam Diagnosis Penyakit Mastocytosis Menggunakan Metode Perbandingan Eksponensial

Diseases pose a major challenge in the medical world. Accurate and precise diagnosis is a crucial key in disease management, including the case of mastocytosis. Mastocytosis is a disorder characterized by the proliferation of mast cells that can affect various organ systems in the human body. There are various variations of mastocytosis, but they can generally be categorized into two main types: cutaneous mastocytosis, which primarily affects the skin and is the most common form, and systemic mastocytosis, which is a more severe form involving the accumulation of mast cells in organs and tissues throughout the body, not just the skin. Planning a successful course of therapy and providing a positive outlook for patients heavily relies on an accurate and timely diagnosis of mastocytosis. This study utilizes an exponential comparison strategy to compare and contrast the Dempster-Shafer (DS) and Case Based Reasoning (CBR) techniques in detecting mastocytosis. The Dempster-Shafer technique is employed in this study to gather and evaluate data from various ambiguous and inadequate sources. This method utilizes the theory of mass variability to represent uncertainty in disease diagnosis. On the other hand, Case Based Reasoning is an approach that relies on past experiences and utilizes existing knowledge in the form of previously encountered cases to make diagnoses. In this study, exponential comparison is used to assign greater weight to certain attributes considered more important in the diagnosis process. This exponential comparison method allows for more flexible attribute weighting, enabling more accurate modeling of symptoms and related factors in mastocytosis. The aim of this research is to use the exponential comparison approach to develop, analyze, and compare both strategies in detecting mastocytosis. With the lowest rate for cutaneous mastocytosis and the highest percentage for systemic mastocytosis, the research findings indicate that both approaches yield comparable results. The Dempster-Shafer approach has proven to be more accurate in mastocytosis diagnosis when comparing the calculations of these two methods with the exponential comparison method

Incidental mastocytosis in a lady with Cowden syndrome: a case report

: Cowden syndrome (CS) is an extremely uncommon hereditary cancer syndrome which results from a mutation in one of the tumour suppressor gene, known as PTEN. This, in turn, leads to widespread manifestation of harmatomas in multiple organs including skin and gastrointestinal tract. CS is also associated with an increased risk of cancer development namely in the breast, thyroid and endometrium. Mast cells have been linked to cancer development and in mammary tumours, it has been postulated to result in invasiveness. At present, existing case reports documented the presence of mast cells solely in soft tissues harmatomas in patients with Cowden syndrome (PHOST). We report a case of locally advanced breast cancer diagnosed in a young 37-year-old lady of Asian descent with CS. Upon screening the contralateral breast, she was found to have atypical ductal hyperplasia (ADH) following stereotactic biopsy and subsequent prophylactic mastectomy showed low grade ductal carcinoma in situ (DCIS) situated away from the biopsy site. Incidental mastocytosis was discovered in both mastectomy specimens. Appropriate adjuvant anti- cancer treatment was prescribed. As she did not display any symptoms of systemic mastocytosis, no treatment was needed. This is the first reported case of mastocytosis in patients afflicted with CS and synchronous breast cancer. More research can be done to examine this relationship between mast cells and v induced breast cancer and to evaluate for differences in tumour biology and clinical outcomes as compared to non-hereditary mammary cancers.

Clinical Case of Mastocytosis

Clinical Case of Mastocytosis

Œdème vulvaire révélant une mastocytose systémique

Systemic mastocytosis is characterised by abnormal proliferation of mast cells in various organs. We report an original case of systemic mastocytosis revealed by vulvar oedema. A 24-year-old patient was examined in the dermatology department for vulvar oedema appearing during sexual intercourse. She presented vasomotor dysfunction of the lower limbs, urticaria on the trunk on exertion, diarrhoea and bone pains. Laboratory tests showed serum tryptase of 29.7μg and plasma histamine at twice the normal value. Myelogram results showed infiltration by dysmorphic mast cells. Screening for c-kit D816V mutation was positive. Duodenal biopsies revealed mast-cell clusters with aggregation involving over 15 mast cells. CD2 staining was inconclusive and CD25 staining could not be done. Trabecular osteopenia was found, and we thus made a diagnosis of indolent systemic mastocytosis (ISM variant Ia) as per the WHO 2008 criteria. Symptomatic treatment was initiated (antiH1, H2, antileukotrienes) and clinical and laboratory follow-up was instituted. The cutaneous signs leading to diagnosis in this patient of systemic mastocytosis involving several organs were seemingly minimal signs associated with mastocyte degranulation. This is the third recorded case of mastocytosis revealed by vulvar oedema and the first case revealing systemic involvement. The two previously reported cases of vulvar oedema revealed cutaneous mastocytosis alone. Mastocytosis, whether systemic or cutaneous, must be included among the differential diagnoses considered in the presence of vulvar oedema.

A Case of Mastocytosis of Maculopapular Type like Telangiectasia Macularis Eruptiva Perstans

A Case of Mastocytosis of Maculopapular Type like Telangiectasia Macularis Eruptiva Perstans

Distribution of cannabinoid receptor 1 (CB1) and 2 (CB2) on sensory nerve fibers and adnexal structures in human skin

Cannabinoid receptors mediate the psychopharmacological action of marijuana and have been localized in the central and peripheral nervous system as well as on cells of the immune system. Up to now, two cannabinoid receptors (CB1 and CB2) have been cloned and recent studies on animal tissue gave evidence for the presence of cannabinoid receptors in the skin. In the present immunohistochemical investigation we determined the precise localization of CB1 and CB2 in sections of human skin and in one case of mastocytosis. CB1 and CB2 immunoreactivity was observed in cutaneous nerve fiber bundles, mast cells, macrophages, epidermal keratinocytes, and the epithelial cells of hair follicles, sebocytes and eccrine sweat glands. In epidermal keratinocytes, hair follicle and sebaceous glands, CB1 and CB2 were distributed in a complementary fashion. Double-immunostaining with an anti-CGRP antibody suggested the presence of cannabinoid receptors on small afferent peptidergic nerves. The abundant distribution of cannabinoid receptors on skin nerve fibers and mast cells provides implications for an anti-inflammatory, anti-nociceptive action of cannabinoid receptor agonists and suggests their putatively broad therapeutic potential.

Cladribine induces immunophenotypical changes in bone marrow mast cells from mastocytosis: Report of a case of mastocytosis associated with a lymphoplasmacytic lymphoma

In the present paper a case of a 65-year-old man diagnosed as suffering from a lymphoplasmacytic lymphoma, resistant to conventional chemotherapy, associated to a bone marrow (BM) mastocytosis, who was successfully treated with cladribine is reported. In this patient cladribine induced not only clinical remission of the lymphoplasmacytic lymphoma but it was also associated with immunophenotypical changes in the BM mast cells (MCs) compartment. Such changes were consistent with a decrease in the number of phenotypically aberrant (CD2+/CD25++/CD35++/CD69++/CD117++) MCs and the reappearance in the BM of MCs displaying a normal phenotype (CD2−/CD25−/CD35−/CD69+/CD117+++). Despite the potential utility of cladribine in the treatment of mastocytosis, our observations should be considered as preliminary and caution should be taken as regards the exact indications of the use of this purine analog in mastocytosis.

Diagnosis of mastocytosis by fine‐needle aspiration cytology

We report a case of a 28-yr-old man in whom mastocytosis was diagnosed by fine-needle aspiration (FNA) of enlarged periaortic lymph nodes. FNA cytology revealed numerous mast cells characterized by cells having round to oval eccentrically placed nuclei and associated coarsely granular cytoplasm, most conspicuous on Diff-Quik- and Giemsa-stained smears. Lymphocytes, histiocytes, and occasional plasma cells were present in the background. We believe this paper to be the first reported case of mastocytosis diagnosed by FNA. The case demonstrates the utility of FNA in evaluating lymphadenopathy occurring in mastocytosis. Diagn. Cytopathol. 1998;18:368–370. © 1998 Wiley-Liss, Inc.

Mastocytosis-Induced Nyctalopia

Systemic mastocytosis is characterized by an increased number of mast cells in multiple organs particularly skin. A 55-year-old man with mastocytosis presented with nyctalopia caused by malabsorption of vitamin A. Diagnosis was made by documenting a low vitamin A level and an ERG that showed rod-cone deficiency with rods affected more than cones. Vitamin A therapy led to return of good visual function. To our knowledge, this is the first reported case of mastocytosis induced nyctalopia. Vitamin A deficiency should be considered as a potential cause of visual loss in patients with sudden onset of night blindness.

Systemic mastocytosis involving the mandible

Systemic mastocytosis is a rare and clinically fascinating disorder that usually involves the skin and hematopoietic tissues. We report a patient with systemic mastocytosis involving the mandible who had no other presenting bone lesions on scintigraphic exam. After noting the radiographic emergence of this osteolytic jaw lesion over a 6-month interval, a biopsy of the lesion was performed, and histologic and electron microscopic studies completed. It is believed that this is the first documented case of mastocytosis to involve an oral-maxillofacial bone. Careful preoperative evaluation and clinical management were conducted to avoid potentially life-threatening complications. A discussion of this condition and strategies for diagnosis and patient management are presented.

A case of mastocytosis involving bone

A case of mastocytosis of the bone associated with urticaria pigmentosa was first suspected of being a generalized metastatic malignancy, for the radiographic manifestations were not connected by us with the patient's skin disease. The histologic diagnosis of systemic mastocytosis was also missed primarily, because mast cells are not visualized in the conventional hematoxylin and eosin staining of the histologic sections. Special stainings revealed mastocytosis. Irregular remodeling of the bone was also seen, which was consistent with the radiographically irregular bone structure.