Diffuse Cutaneous Mastocytosis in a Child - a Case Report

Abstract Mastocytosis refers to a group of diseases characterized by a clonal proliferation and accumulation of mast cells in one or more tissues/organs with different clinical presentations. In children, limited cutaneous forms of mastocytosis are rather frequent, while systemic mastocytosis is rare. The diagnosis of cutaneous mastocytosis is based on clinical findings and histopathology. We present a patient who developed skin lesions at the age of 18 months. Clinical findings, confirmed by histopathology, were consistent with diffuse cutaneous mastocytosis. The follow-up period was 7 years. The treatment included oral antihistamines in combination with mast cell stabilizers, mild topical steroids and avoidance of friction. During the follow-up period, there were no signs of systemic involvement, and the quality of life was preserved, despite the large surface of affected skin. This case report should increase the awareness and knowledge of clinicians about this rare form of cutaneous mastocytosis in the pediatric population.

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Molecular Background, Clinical Features and Management of Pediatric Mastocytosis: Status 2021

International Journal of Molecular Sciences ◽

10.3390/ijms22052586 ◽

2021 ◽

Vol 22 (5) ◽

pp. 2586

Author(s):

Magdalena Lange ◽

Karin Hartmann ◽

Melody C. Carter ◽

Frank Siebenhaar ◽

Ivan Alvarez-Twose ◽

...

Keyword(s):

Systemic Mastocytosis ◽

Histamine Receptor ◽

Germline Mutations ◽

Skin Lesions ◽

Hypersensitivity Reactions ◽

Systemic Involvement ◽

Triggering Factor ◽

Receptor Blockers ◽

Cutaneous Mastocytosis

Pediatric mastocytosis is a heterogeneous disease characterized by accumulation of mast cells in the skin and less frequently in other organs. Somatic or germline mutations in the KIT proto-oncogene are detected in most patients. Cutaneous mastocytosis is the most common form of the disease in children. In the majority of cases, skin lesions regress spontaneously around puberty. However, in few patients, mastocytosis is not a self-limiting disease, but persists into adulthood and can show signs of systemic involvement, especially when skin lesions are small-sized and monomorphic. Children with mastocytosis often suffer from mast cell mediator-related symptoms. Severe hypersensitivity reactions can also occur, mostly in patients with extensive skin lesions and blistering. In a substantial number of these cases, the triggering factor of anaphylaxis remains unidentified. Management of pediatric mastocytosis is mainly based on strict avoidance of triggers, treatment with H1 and H2 histamine receptor blockers, and equipment of patients and their families with epinephrine auto-injectors for use in severe anaphylactic reactions. Advanced systemic mastocytosis occurs occasionally. All children with mastocytosis require follow-up examinations. A bone marrow investigation is performed when advanced systemic mastocytosis is suspected and has an impact on therapy or when cutaneous disease persists into adulthood.

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Diagnosis of Cutaneous Mastocytosis in an Adult Patient: A Case Report

10.46619/cmj.2020.3-1018 ◽

2020 ◽

Vol 3 (1) ◽

pp. 35-39

Author(s):

Zattar Piazera Flávia ◽

◽

da S Lopes Gabriel ◽

A de Souza Luiza ◽

da S Nunes David ◽

...

Keyword(s):

Clinical Presentation ◽

Case Reports ◽

Signs And Symptoms ◽

Skin Lesions ◽

Clinical Findings ◽

Bone Marrow Biopsies ◽

Systemic Involvement ◽

Kit Receptor ◽

Cutaneous Form ◽

Cutaneous Mastocytosis

The cutaneous mastocytosis is characterized by infiltration and proliferation of mast cells in the skin with no evidence of extracutaneous involvement. The clinical findings most frequently found are brownish macules or papules slightly elevated, frequently localized in the limbs, chest and abdomen. Mutations in the c-kit receptor (CD117) are frequent and provide the pathophysiology basis of the disease. These mutations allow autophosphorylation of the c-kit receptor and subsequent degranulation of mast cell precipitated with a variety of stimuli, releasing local or systemic cell mediators capable of causing symptoms. Skin lesions occur in both the systemic and the cutaneous form of the disease, though the latter is more frequently seen in children, while most adults with mastocytosis present signs and symptoms of systemic involvement. Although this clinical pattern, we report a rare case of adult-onset cutaneous mastocytosis in a masculine patient of 32 years old. Clinical presentation featured hyperpigmented macules with brownish coloration diffused through the chest and limbs. Skin and bone marrow biopsies and laboratory testing were made and strengthened the diagnosis of cutaneous mastocytosis, a clinical presentation with little similar case reports.

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PEDIATRIC MASTOCYTOSIS: AN UPDATE

Mediterranean Journal of Hematology and Infectious Diseases ◽

10.4084/mjhid.2021.069 ◽

2021 ◽

Vol 13 (1) ◽

pp. e2021069

Author(s):

Fiorina Giona

Keyword(s):

Systemic Mastocytosis ◽

Histamine Receptor ◽

Skin Lesions ◽

On Demand ◽

Receptor Blockers ◽

Cutaneous Mastocytosis ◽

Excessive Proliferation ◽

Kit D816v ◽

Over Time

Mastocytosis is a rare clonal disorder, characterized by excessive proliferation and accumulation of mast cells (MC) in various organs and tissues. Cutaneous mastocytosis (CM), the most common form in children, is defined when MC infiltration is limited to the skin. Systemic mastocytosis (SM), the most common form in adults, is characterized by MC proliferation and accumulation in organs, such as bone marrow, lymph nodes, liver and spleen (1). Genetic aberrations, mainly the KIT D816V mutation, play a crucial role in the pathogenesis of mastocytosis, resulting in enhancing MC survival and subsequent accumulation in organs and tissues (2,3). CM includes 3 forms: solitary mastocytoma, maculopapular cutaneous mastocytosis (MPCM) and diffuse cutaneous mastocytosis (DCM). In the majority of children with CM, skin lesions regress spontaneously around puberty; unfortunately, in a few cases, it is not a self-limiting disease (4). Even if SM occurs occasionally, all children with mastocytosis require planned follow-up over time. Children with mastocytosis often suffer from MC mediator-related symptoms, the most common of which is itching, often triggered by rubbing the lesions. Management of pediatric mastocytosis is mainly based on strict avoidance of triggers. Treatment with H1 and H2 histamine receptor blockers on demand, and the availability of epinephrine auto-injectors for the patients to use in case of severe anaphylactic reactions are recommended.

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Corneal cross-linking for treatment of progressive keratoconus in a patient with Alport syndrome: A case report

European Journal of Ophthalmology ◽

10.1177/1120672121997672 ◽

2021 ◽

pp. 112067212199767

Author(s):

Iva Krolo ◽

Aida Kasumović ◽

Ivana Radman ◽

Pavao Pavić

Keyword(s):

Case Report ◽

Alport Syndrome ◽

Contact Lenses ◽

Corneal Dystrophy ◽

Clinical Findings ◽

Cross Linking ◽

Posterior Polymorphous Corneal Dystrophy ◽

One Year ◽

Corneal Tomography

Purpose: Ocular features of Alport syndrome include anterior lenticonus, posterior polymorphous corneal dystrophy, and fleck-and-dot retinopathy in most cases. Keratoconus in such patients has been rarely mentioned in previous studies. To our knowledge, this is the first report of corneal cross-linking for halting the progression of keratoconus in a patient with Alport syndrome. Case report: A 22-year-old male was referred for his initial corneal topography, after he was already prescribed with rigid gas-permeable contact lenses. Alport syndrome was diagnosed in his infancy and gene COL4A5 mutation was confirmed. Ophthalmological evaluation confirmed keratoconus. One-year follow-up showed a progression on his right eye and standard corneal cross-linking was performed. Stabilization of the disease marked by normalization in visual function and corneal tomography values was noticed 1 year after the procedure. Conclusions: When diagnosing ocular clinical findings of Alport syndrome, keratoconus should be considered. Standard corneal cross-linking protocol can halt its progression.

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Pediatric Peritoneal Epithelial Malignant Mesothelioma Case Report

Case Reports in Radiology ◽

10.1155/2021/5581757 ◽

2021 ◽

Vol 2021 ◽

pp. 1-7

Author(s):

Elizabeth Bellew ◽

Samantha Lee ◽

Hiren Patel ◽

Carolyn Fein Levy ◽

Rachelle Goldfisher ◽

...

Keyword(s):

Case Report ◽

Malignant Mesothelioma ◽

Crucial Role ◽

Clinical Course ◽

Pediatric Population ◽

Adult Population ◽

Initial Evaluation ◽

Peritoneal Mesothelioma ◽

Imaging Characteristics

We present a 14-year-old boy with peritoneal epithelial malignant mesothelioma (PEMM). While pathology is required to make this diagnosis, radiology plays a crucial role throughout the clinical course of this disease. The key imaging characteristics of peritoneal mesothelioma have been previously well-described in the adult population, but there are rare reports in the pediatric population. This pediatric report highlights the multidimensional use of imaging in this disease, from the initial evaluation to therapeutic supplementation and subsequent follow-up.

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Isolated Crohn’s Disease of the Appendix Presenting as Acute Appendicitis in a 60-Year-Old South Asian Female: A Case Report, Review of Literature, and Follow-Up Recommendations

Case Reports in Surgery ◽

10.1155/2019/5285417 ◽

2019 ◽

Vol 2019 ◽

pp. 1-4

Author(s):

Pamathy Gnanaselvam ◽

Dhanushka N. Weerakoon ◽

W. A. M. Wijayasuriya ◽

Vishva Samidi Mohottala ◽

B. M. E. S. Sinhakumara ◽

...

Keyword(s):

Crohn’S Disease ◽

Case Report ◽

Crohn's Disease ◽

Acute Appendicitis ◽

Clinical Findings ◽

Additional Treatment ◽

Histological Evaluation ◽

Histopathological Analysis ◽

Review Of Literature

The isolated appendiceal Crohn’s disease without preceding bowel symptoms is a rare phenomenon, especially in older patients. In this case report, we present a 60-year-old female with isolated appendiceal Crohn’s disease presenting with acute appendicitis. She presented with classical features of appendicitis with elevated inflammatory markers. She underwent an appendectomy which showed an excessively swollen, oedematous, and reddish appendix with swelling extending to the base of the caecum. Histological evaluation was suggestive of Crohn’s disease, and subsequent colonoscopy was unremarkable. Following appendectomy, she was asymptomatic without any recurrence of disease. The atypical morphological appearance of the appendix should raise suspicion of Crohn’s disease. This case highlights the importance of histopathological analysis of the specimen, especially in abnormal clinical findings. The prognosis of such patients seems to be good, and additional treatment is rarely needed.

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Case for diagnosis

Anais Brasileiros de Dermatologia ◽

10.1590/s0365-05962013000100022 ◽

2013 ◽

Vol 88 (1) ◽

pp. 131-133 ◽

Cited By ~ 4

Author(s):

Paula Maio ◽

Candida Fernandes ◽

Ana Afonso ◽

Fernanda Sachse ◽

José Cabeçadas ◽

...

Keyword(s):

Dendritic Cell ◽

Plasmacytoid Dendritic Cell ◽

Skin Lesions ◽

Cell Tumor ◽

Lesional Skin ◽

Systemic Involvement ◽

Initial Stage ◽

Dermal Infiltrate ◽

Multiple Nodules

Blastic plasmacytoid dendritic cell tumor is a rare, highly aggressive systemic neoplasm for which effective therapies have not yet been established. We describe a 73-year-old man with multiple nodules and patches emerging on the trunk and limbs. Lesional skin biopsy revealed a plasmacytoid dendritic cell tumor with dense dermal infiltrate of tumor cells with blastoid features. No apparent systemic involvement was identified in the initial stage. The patient was treated with prednisone daily, with notorious improvement of the skin lesions, although no complete remission was obtained. During the six-month follow-up period, no disease progression was documented, but fatal systemic progression occurred after that period of time.

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Successful treatment of progressive cutaneous mastocytosis with imatinib in a 2-year-old boy carrying a somatic KIT mutation

Blood ◽

10.1182/blood-2008-03-147785 ◽

2008 ◽

Vol 112 (5) ◽

pp. 1655-1657 ◽

Cited By ~ 36

Author(s):

Karl M. Hoffmann ◽

Andrea Moser ◽

Peter Lohse ◽

Andreas Winkler ◽

Barbara Binder ◽

...

Keyword(s):

Germ Line ◽

Systemic Mastocytosis ◽

Therapeutic Option ◽

Kinase Domain ◽

Imatinib Therapy ◽

Imatinib Treatment ◽

Kit Mutation ◽

Systemic Involvement ◽

Kit Gene ◽

Cutaneous Mastocytosis

Abstract Cutaneous mastocytosis (CM) in children is a usually benign skin disorder caused by mast cell proliferation. Progressive disease leading to systemic involvement and fatal outcomes has been described. C-kit receptor mutations have been identified as causative for CM, some of which potentially respond to imatinib treatment as described for patients with systemic mastocytosis. We report successful therapy of progressive CM with imatinib in a 23-month-old boy. KIT gene analysis revealed not only a somatic deletion of codon 419 in exon 8 (c.1255_1257delGAC) which responds to imatinib therapy, but also a novel germ line p. Ser840Asn substitution encoded by exon 18 in the c-kit kinase domain. Family history suggests this exchange does not affect receptor function or cause disease. Imatinib therapy was well tolerated, stopped symptoms and disease progression, and appeared to shorten the course of the disease. Imatinib could possibly represent a novel therapeutic option in patients with progressive CM.

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Cutaneous Mastocytosis in a 61-year-old Female from a Dermatological and Histopathological Perspective

10.36811/ijdsc.2020.110004 ◽

2020 ◽

pp. 01-06

Author(s):

Erisa Kola ◽

Jorida Memini ◽

Ina Kola ◽

Daniela Nakuci ◽

John Ekladous ◽

...

Keyword(s):

Bone Marrow ◽

Mast Cell ◽

Mast Cells ◽

Lymph Nodes ◽

Systemic Mastocytosis ◽

World Health ◽

Systemic Involvement ◽

Cutaneous Mastocytosis ◽

Health Organization ◽

Cell Disorder

First described by Nettleship et al. in 1869 [1], mastocytoses are a heterogeneous group of disorders characterized by the pathologic accumulation of mast cells in various tissues [2-5]. Mastocytosis can be confined to the skin as in cutaneous mastocytosis (CM), or it can involve extracutaneous tissues such as the liver, spleen, bone marrow and lymph nodes, as in systemic mastocytosis [6]. Mastocytosis is a World Health Organization-defined clonal mast cell disorder characterized by significant clinicopathologic heterogeneity [7]. Keywords: Cutaneous mastocytosis; Systemic mastocytosis; Systemic involvement; Mast cells; Mastocytosis.

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Neurodegeneration with cerebral iron accumulation: a case report

10.5327/1516-3180.145 ◽

2021 ◽

Author(s):

Monalisa Moura Saito ◽

Dhyego Ferreira Moreira de Lacerda ◽

Ana Claudia Marque Gouveia de Melo ◽

Lucas Monteiro Barros Nunes ◽

Luana Cristina Rodrigues de Oliveira Costa ◽

...

Keyword(s):

Case Report ◽

Rare Disease ◽

Movement Disorders ◽

Retinal Dystrophy ◽

Rapid Onset ◽

Clinical Findings ◽

Iron Accumulation ◽

Significant Clinical Improvement ◽

The Brain

Introduction: NBIA is a rare disease, with a prevalence of 1/1,000,000.It is characterized by abnormal iron accumulation. Clinical findings may include progressive extrapyramidal disorders, involvement of the pyramidal, peripheral, autonomic nervous systems, superior cortical, visual and cerebellar functions. The diagnosis is made through the association of clinical findings and complementary exams. Currently, the treatment is only symptomatic, with no specific therapy. Case report: 5-year-old female, reporting involuntary movements and difficulty walking a day ago. Presented agitation and delayed neuropsychomotor development, seen since 1 year of age. On examination, dysarthria, dystonia and parkinsonian stiffness were observed. MRI of the brain showed the radiological signal “tiger’s eye” and the ophthalmological evaluation showed retinal dystrophy. Positive acanthocyte screening. NBIA’s NGS panel confirmed the diagnosis. Triexfenid was started and there was an improvement in movement disorders. In outpatient follow-up, the symptoms worsened. Levodopa was associated with the return of walking without support and ability to pick up objects. Discussion: In this case, Triexafenid 2mg/day was initially prescribed, with a slight improvement in movement disorders. Levodopa was started with the aim of improving symptoms of parkinsonian stiffness. The excellent response to the association of the drug in low doses stands out, enabling ambulation and functionality for daily activities. Conclusion: NBIA is a rare disease, with rapid onset and progression. Studies show limited benefits of levodopa in the case of PKAN. We emphasize significant clinical improvement, with a return to walking after administration of the drug.

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