Cutaneous types of mastocytosis in paediatry. Case report of maculopapular cutaneous mastocytosis in an infant

2020 ◽  
Vol 1 (1) ◽  
pp. 60-66
Author(s):  
Olga Tamrazova ◽  
◽  
Evgeniya Glukhova ◽  
Keyword(s):  
Case Report ◽  
Mast Cells ◽  
Heterogeneous Group ◽  
Cutaneous Mastocytosis

Mastocytosis is a heterogeneous group of neoplasms characterized by increased mast cells proliferation and accumulation in various organs and tissues. The paper introduces the newest mastocytosis classification and diagnosis principles. Each type of cutaneous mastocytosis is discussed separately, with the recommendations for the affected patients’ management. The paper reports the typical mastocytosis manifestations in a 1(1/2)-year-old infant.

scholarly journals Urticaria pigmentosa: A case report

2016 ◽  
Vol 13 (1) ◽  
pp. 57-60
Author(s):  
Mohammad Abid Keen
Keyword(s):  
Case Report ◽  
Mast Cells ◽  
Common Variant ◽  
Urticaria Pigmentosa ◽  
Heterogenous Group ◽  
Cutaneous Mastocytosis

Mastocytosis is a heterogenous group of diseases characterized by abnormal infiltration of mast cells in the skin and other organs. Urticaria Pigmentosa is the most common variant of cutaneous mastocytosis. We herein report a case of urticaria pigmentosa in a three year old boy.NJDVL Vol. 13, No. 1, 2015 Page: 57-60

scholarly journals Genotypic and phenotypic characteristics of Chinese neonates with cutaneous mastocytosis: a case report and literature review

2020 ◽  
Vol 48 (9) ◽  
pp. 030006052095262
Author(s):  
Yanfang Li ◽  
Xiaoying Li ◽  
Xianghong Liu ◽  
Lili Kang ◽  
Xinjie Liu
Keyword(s):  
Case Report ◽  
Mast Cells ◽  
Literature Review ◽  
Urticaria Pigmentosa ◽  
Phenotypic Characteristics ◽  
Neonatal Onset ◽  
Activating Mutation ◽  
Kit Gene ◽  
Cutaneous Mastocytosis

Mastocytosis is an accumulation of clonal mast cells within tissues and it is most commonly caused by an activating mutation in the KIT gene. In this study, we report a neonatal case who presented with diffuse cutaneous mastocytosis (CM) at birth. In China, nine other cases of neonatal-onset CM have been reported in the literature since 2006. In those cases, diffuse CM and urticaria pigmentosa were the main symptoms, and mutations in exon 17 at codon 816 in KIT were identified.

scholarly journals Medical, neurobiological, and psychobehavioral perspectives of mastocytosis: a case report

2021 ◽  
Vol 15 (1) ◽  
Author(s):  
A. Héron ◽  
V. Papillon ◽  
D. Dubayle
Keyword(s):  
Case Report ◽  
Mast Cells ◽  
Stressful Life Events ◽  
Medical Data ◽  
Therapeutic Management ◽  
Caucasian Woman ◽  
Semistructured Interview ◽  
Cutaneous Mastocytosis ◽  
Method Of Evaluation ◽  
The Mind

Abstract Background Cutaneous mastocytosis is a rare pathology characterized by an abnormal proliferation and degranulation of mast cells, affecting the skin. Here we present the case of a patient suffering from chronic resistant mastocytosis. An original integrative method of evaluation was tested in this patient, to improve therapeutic management. It integrated the interactions between stressful life events and medical history as well as psychobehavioral components and neurobiological factors. Case presentation The patient was a 65-year-old Caucasian woman. The cutaneous symptoms of mastocytosis had progressively evolved over the past 36 years, increasingly affecting the patient’s quality of life. At the time of the evaluation, psoralen and ultraviolet A therapy had reduced pruritus, but very unsightly brown-red maculopapules persisted on the chest, back, and arms. We proposed an integrative diagnosis that combined a semistructured interview, a psychometric assessment with the Millon Behavioral Medicine Diagnostic tool, and the collection of medical data. The medical data were compared with the analysis of the significant events in the patient’s life, to determine the threshold of tolerance to stress beyond which the skin symptoms led to profuse thrusts of pruritus. At the same time, the psychobehavioral profile of the patient was determined; this highlighted how social isolation, the denigrated coping style, and problematic compliance could influence the extension of dermatological symptoms. The effects of stressors on the infiltration and degranulation of skin mast cells have been discussed in light of the neurobiological processes currently known. At the end of the evaluation, a new therapeutic strategy was proposed. Conclusion This case report reveals the mind–body relationship of a patient suffering from mastocytosis. It highlights the points of vulnerability and the adaptative strategies specific to each patient to be considered in therapeutic management of other resistant chronic diseases.

Ectodermal Dysplasia in two siblings: A Case report.

2019 ◽  
Author(s):  
CHAITHRA KALKUR ◽  
NILOFER HALIM ◽  
ANUSHA RANGARE ◽  
Rumisha .
Keyword(s):  
Case Report ◽  
Key Words ◽  
Clinical Features ◽  
Ectodermal Dysplasia ◽  
Heterogeneous Group ◽  
Eccrine Glands ◽  
Key Words Ectodermal Dysplasia

Ectodermal dysplasia is a heterogeneous group of inherited disorder affecting two or more ectodermally derived tissues such as skin, hair, nails, eccrine glands and teeth. The disorder is of two types: Hypohydrotic ectodermal dysplasia/Christ seimens –Touraine syndrome and Hydrotic ectodermal dysplasia/clousten syndrome. Commonly associated signs include hypohidrosis, anomalous dentition, onychodysplasia, hypotrichosis. Multidisciplinary approaches are required for optimal treatment3. Here, we present two cases of 19 and 13 year old male siblings who were diagnosed with the disorder based upon their clinical features. Key Words: ectodermal dysplasia, hypodontia; anomalous dentition.

scholarly journals Male urethral sarcoma: a case report and literature review

2015 ◽  
Vol 14 (1) ◽  
pp. 64-66
Author(s):  
Magno Almeida Nogueira ◽  
Guilherme Campelo Lopes dos Santos ◽  
Roberto Iglesias Lopes ◽  
Octavio Henrique Arcos Campos ◽  
Marcos Francisco Dall'Oglio ◽  
...  
Keyword(s):  
Case Report ◽  
Urinary Tract ◽  
Soft Tissue ◽  
Literature Review ◽  
Soft Tissue Sarcomas ◽  
Heterogeneous Group ◽  
Men 2

Urethral tumors are rare and aggressive. They usually affect men (2:1) and occur more commonly in white (85% of cases). Soft tissue sarcomas are a heterogeneous group of tumors that arise from embryonic mesoderm. It represents 1% of all cases of urinary tract malignancies and rarely primary affect the ureter. We report a case of male urethral sarcoma. To date, only two similar cases have been published in literature.

scholarly journals Immune response against HtrA proteases in children with cutaneous mastocytosis

2018 ◽  
Vol 65 (3) ◽  
Author(s):  
Joanna Zofia Renke ◽  
Sabina Kędzierska-Mieszkowska ◽  
Magdalena Lange ◽  
Bogusław Nedoszytko ◽  
Anna Liberek ◽  
...  
Keyword(s):  
Mast Cells ◽  
Enzyme Linked Immunosorbent Assay ◽  
Control Group ◽  
Healthy Children ◽  
Innate And Adaptive Immunity ◽  
Cellular Processes ◽  
Clonal Proliferation ◽  
Frequent Form ◽  
Cutaneous Mastocytosis ◽  
Igg Level

Mast cells play important role in both innate and adaptive immunity but clonal proliferation of abnormal mast cells in various organs leads to mastocytosis. The skin variant of the disease, cutaneous mastocytosis (CM) is the most frequent form of mastocytosis in children. The HtrA proteases are modulators of important cellular processes, including cell signaling and apoptosis, and are connected with development of many pathologies. The above and the observation that mast cells constitutively release the HtrA1 protein, prompted us to investigate a possible involvement of the HtrA proteins in pediatric CM.We assayed the levels of the serum autoantibodies (IgG) against the recombinant HtrA proteins (HtrA1-4) in children with CM (n= 36) and in healthy controls (n= 62). The anti-HtrA IgGs were detected using enzyme linked immunosorbent assay (ELISA) and Western-blotting. In the CM sera the levels of the anti-HtrA1 and anti-HtrA3 autoantibodies were significantly increased compared to the control group while the HtrA proteins’ levels were comparable. No significant differences in the anti-HtrA2 IgG level were found, and the anti-HtrA4 IgGs had a tendency to decrease. In healthy children, the IgG levels against the HtrA1, -3 and -4 increased significantly with the age of children; no significant changes were observed for the anti-HtrA2 IgG. Our results suggest involvement of the HtrA1 and HtrA3 proteins in pediatric CM; the involvement of the HtrA4 protein is possible but needs to be investigated further. In healthy children, the autoantibody levels against HtrA1, -3 and -4 but not against HtrA2 increase with age.

scholarly journals Place of cytology in the diagnosis of systemic mastocytosis: A case report

2021 ◽  
Vol 7 (2) ◽  
pp. 01-05
Author(s):  
W. Quiddi ◽  
H. Boumaazi ◽  
S. Ed-dyb ◽  
H. Yahyaoui ◽  
M. Aitameur ◽  
...  
Keyword(s):  
Mast Cells ◽  
Hematological Malignancies ◽  
Systemic Mastocytosis ◽  
Bone Marrow Involvement ◽  
Acute Leukemias ◽  
Activating Mutations ◽  
Myeloid Neoplasms ◽  
Organ Systems ◽  
Cutaneous Mastocytosis

Mastocytosis is a heterogeneous group of rare diseases related to the clonal, neoplastic proliferation of morphologically and immunophenotypically abnormal mast cells, that accumulate in one or more organ systems. Their pathophysiology is dominated by activating mutations in C-Kit (Stem Cell Factor receptor). Several pathological forms have been described ranging from isolated cutaneous mastocytosis affecting mainly children, to aggressive systemic mastocytosis described mainly in adults with bone marrow involvement. According to the WHO 2016 classification of hematological malignancies, systemic mastocytosis appear as a new entity of "myeloid neoplasms and acute leukemias" that combines cytology (abnormal mast cells) with other genetic and molecular criteria. We describe through this observation the practical side of hematological cytology in the diagnostic orientation of this serious, rare and underestimated pathology.

Management of a neonate with diffuse cutaneous mastocytosis: Case report and literature review

2019 ◽  
Vol 36 (4) ◽  
pp. 486-489
Author(s):  
Helena A. Jenkinson ◽  
Ashley D. Lundgren ◽  
Melody C. Carter ◽  
Lucia Z. Diaz ◽  
Moise L. Levy
Keyword(s):  
Case Report ◽  
Literature Review ◽  
Cutaneous Mastocytosis

scholarly journals Generalized Equine Cutaneous Mastocytosis

1972 ◽  
Vol 9 (6) ◽  
pp. 394-407 ◽  
Author(s):  
N. F. Cheville ◽  
K. Prasse ◽  
M. van der Maaten ◽  
A. D. Boothe
Keyword(s):  
Cell Culture ◽  
Bone Marrow ◽  
Mast Cells ◽  
Skin Lesions ◽  
Eosinophil Infiltration ◽  
Equine Herpesvirus ◽  
Cytoplasmic Granules ◽  
Large Numbers ◽  
Cutaneous Mast Cell ◽  
Cutaneous Mastocytosis

A newborn foal developed generalized cutaneous mastocytosis characterized by multiple elevated nodules of mast cells in skin and basophil hyperplasia in bone marrow. Skin lesions began as small aggregates of mast cells that progressively enlarged, ulcerated, and regressed spontaneously. Eosinophil infiltration, collagen necrosis, and fibroplasia were characteristic of advanced lesions. Many new lesions developed during the first month of life but numbers progressively diminished. Large numbers of mast cells were present in biopsies of lymph node, spleen and bone marrow. Discrete aggregates of mast cells were present in the bone marrow postmortem but no other significant change was seen. Mast cells contained large amounts of histamine but little serotonin. Ultrastructurally, their cytoplasmic granules were chiefly granular with few dense forms. In cell culture, mast cells from early lesions maintained mitotic activity through 14 passages. Cells obtained from older lesions were rapidly overgrown with fibroblasts. An equine herpesvirus isolated from cultures of cutaneous mast cell lesions and of spleen was not thought to be related to the disease.

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