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Diagnostics (Basel, Switzerland) Jan 2024Mastocytosis 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... (Review)
Review
BACKGROUND
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.
METHODS
This study compiles personal experiences together with relevant literature, discussing possible obstacles encountered in diagnosing skin involvement in mastocytosis and cutaneous mastocytosis (CM).
RESULTS
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 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.
CONCLUSIONS
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.
PubMed: 38248039
DOI: 10.3390/diagnostics14020161 -
Diagnostics (Basel, Switzerland) Dec 2023Pediatric mastocytosis is mostly a cutaneous disease classified as cutaneous mastocytosis (CM), which is characterized by mast cell (MCs) accumulation in the skin and... (Review)
Review
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.
PubMed: 38066824
DOI: 10.3390/diagnostics13233583 -
Cureus Dec 2023Congenital cutaneous mastocytoma is an uncommon disorder characterized by abnormal proliferation of mast cells. It typically presents as a single, small,...
Congenital cutaneous mastocytoma is an uncommon disorder characterized by abnormal proliferation of mast cells. It typically presents as a single, small, yellowish-brown plaque, and its diagnosis is generally facilitated by distinctive clinical features, including a positive Darrier's sign. This report presents a case of an unusually large, solitary congenital mastocytoma encompassing nearly the entire circumference of the calf, observed in a newborn boy of Bangladeshi origin. Measuring 13x6 cm, the lesion formed large bullae and subsequent erosions. The perplexing clinical appearance prompted a skin biopsy, revealing monomorphic CD117 (c-KIT) positive infiltration without significant cell pleomorphism, confirming the diagnosis of cutaneous mastocytoma. The patient underwent management with potent and very potent topical steroids, oral antihistamines, and non-adhesive dressings, remaining under long-term follow-up with secondary care dermatology. In reporting this case, our objective is to augment the existing scientific literature by providing additional evidence that cutaneous mastocytomas can display a spectrum of clinical presentations, as illustrated in this case.
PubMed: 38205464
DOI: 10.7759/cureus.50306 -
Allergy Jun 2024
PubMed: 38850228
DOI: 10.1111/all.16185 -
Veterinary and Comparative Oncology Sep 2023In this study we undertook a comprehensive analysis of a Pet Tumour Registry of the Canary Archipelago (PTR-CA) in Spain to investigate the epidemiology of canine...
In this study we undertook a comprehensive analysis of a Pet Tumour Registry of the Canary Archipelago (PTR-CA) in Spain to investigate the epidemiology of canine cutaneous round cell tumours. From a database of 2526 tumours collected from 2003 to 2020, we conducted a longitudinal analysis of the main trends in diagnosis, age, multiplicity and anatomical distribution as well as a case-control study comparing these cases with the contemporaneous canine population of the Canary Archipelago to analyse breed distribution. In line with former studies, we found histiocytomas mostly affect young dogs (2, IQR 1-5) and mast cell tumours affect middle-to-old dogs (8, IQR 6-10) with grade 1 affecting at younger ages (6.5, IQR 6-8) than both grade 2 (8, IQR 6-10 years) and grade 3 (9, IQR 7-11). Histiocytomas and plasmacytomas showed a similar anatomical distribution appearing mainly on the face, head and neck regions while mast cell tumours occur mainly on limbs and trunk. Higher risk for mast cell tumours and histiocytomas were found for Bulldog-related breeds such as Boxer (OR = 23.61, CI95%: 19.12-29.15, OR = 10.17, CI95%: 6.60-15.67), Boston Terrier (OR 19.47, CI95%: 7.73-49.05, OR 32.61, CI95%: 11.81-90.07) and Pug (OR 8.10, CI95%: 5.92-11.07, OR 7.87, CI95%: 4.66-13.28) while Chihuahua dogs showed significantly less risk (OR 0.18, CI95%: 0.09-0.33, OR 0.41, CI95%: 0.21-0.78). Notably, the Canarian Mastiff, a local breed, had a low risk of suffering from a mast cell tumour which raises the question of whether this relates to a genetic peculiarity of this breed or some husbandry and environmental factor.
Topics: Dogs; Animals; Canaries; Case-Control Studies; Spain; Dog Diseases; Sarcoma; Histiocytoma; Skin Neoplasms
PubMed: 37143410
DOI: 10.1111/vco.12899 -
Veterinary and Comparative Oncology Sep 2023Mast cell tumour (MCT) is one of the most frequent skin tumours in dogs. Due to their unpredictable biological behaviour, MCTs often cause several therapeutic...
Mast cell tumour (MCT) is one of the most frequent skin tumours in dogs. Due to their unpredictable biological behaviour, MCTs often cause several therapeutic frustrations, leading to investigation regarding prognostic markers. Lysyl oxidase (LOX) is an enzyme that promotes extracellular matrix stability and contributes to cell migration, angiogenesis and epithelial-mesenchymal transition. Its expression positively correlates with poor prognoses in several human and canine mammary cancers. The aim of this study was to characterise the immunohistochemical expression of LOX in MCT samples and compare it with histological grading and post-surgical survival. Twenty-six tumours were submitted to immunohistochemistry for LOX expression evaluation. All samples were positive for LOX, with variable percentages of cytoplasmic and nuclear positivity. Cytoplasmic positivity was significantly higher in high-grade MCTs (P = .0297). Our results indicate that high expression of cytoplasmic LOX in neoplastic mast cells is an indicator of poor prognosis for canine cutaneous MCTs.
Topics: Humans; Dogs; Animals; Mast Cells; Protein-Lysine 6-Oxidase; Dog Diseases; Mastocytoma, Skin; Skin Neoplasms; Prognosis
PubMed: 37186079
DOI: 10.1111/vco.12898 -
Journal of the American Veterinary... Sep 2023To report preliminary findings of hypofractionated superficial radiotherapy for treatment of cutaneous mast cell tumors (MCTs) and report the acute and late toxicity...
OBJECTIVE
To report preliminary findings of hypofractionated superficial radiotherapy for treatment of cutaneous mast cell tumors (MCTs) and report the acute and late toxicity associated with its use.
ANIMALS
3 dogs and 1 cat.
PROCEDURES
In this retrospective study, medical records from January 2021 through July 2022 were searched for animals that received superficial radiation therapy for MCTs of the head.
RESULTS
4 patients with 5 MCTs were included. Three of the masses were periocular and required protection of the globe with a tungsten eye shield. One patient did not complete the intended protocol due to diffuse metastatic spread noted after the second fraction. Of the 3 patients that completed their protocol, 100% had a complete response. Two canine patients were treated adjunctively with toceranib. Two of the 4 patients experienced grade 1 acute veterinary radiation therapy oncology group (VRTOG) toxicity, and the 3 patients that completed their protocol experienced grade 1 late VRTOG toxicity. No radiation effects were documented to the cornea or lens in any patient.
CLINICAL RELEVANCE
Superficial radiation therapy was effective in our limited study population, and patients experienced minimal side effects for treatment of cutaneous MCTs.
Topics: Dogs; Animals; Retrospective Studies; Skin Neoplasms; X-Rays; Mast Cells; Mastocytoma, Skin; Dog Diseases
PubMed: 37116878
DOI: 10.2460/javma.23.02.0080 -
Cureus Jan 2024Mastocytosis is a disease of the mast cells caused by an increase in the number of mast cells due to abnormal proliferation. The disease is associated with a mutation in...
Mastocytosis is a disease of the mast cells caused by an increase in the number of mast cells due to abnormal proliferation. The disease is associated with a mutation in the gene, which is a key factor in the development of mast cells. Mastocytosis is classified into two main groups, namely, cutaneous and systemic mastocytosis, based on the site of mast cell accumulation. In cutaneous mastocytosis, the cells purely gather in the skin. In contrast, systemic mastocytosis must affect an internal organ, including the bone marrow, lymph nodes, liver, spleen, and/or the gastrointestinal tract with or without skin involvement. Cutaneous mastocytosis has four distinct presentations, including urticaria pigmentosa, cutaneous mastocytoma, diffuse cutaneous mastocytosis, and telangiectasia macularis eruptive perstans listed from most to least common. This case report presents a rare bullous variant of diffuse cutaneous mastocytosis.
PubMed: 38313964
DOI: 10.7759/cureus.51660 -
Veterinary Clinical Pathology Mar 2024Cutaneous mast cell tumors are rarely reported in cattle. Although mutations in the c-KIT gene have been shown to play a central role in the oncogenesis of canine mast...
Cutaneous mast cell tumors are rarely reported in cattle. Although mutations in the c-KIT gene have been shown to play a central role in the oncogenesis of canine mast cell tumors, few data are available in cattle. This report describes the clinical, histologic, immunohistochemical, and genetic features of a multicentric cutaneous mast cell tumor in an adult cow. An 11-year-old Prim'Holstein cow was presented for a 5-month history of multiple skin nodules. Cytologic and histologic analyses of the nodules led to a diagnosis of mast cell tumors. Immunohistochemical analysis for KIT expression showed a moderate to strong signal in neoplastic mast cells with a cytoplasmic and membranous pattern. Sequencing of the c-KIT gene coding sequence revealed no mutation. Despite partial response after corticosteroid treatment, euthanasia was elected. No metastases to the lymph nodes, spleen, and liver were identified at post-mortem and histologic examinations.
Topics: Female; Cattle; Animals; Dogs; Mast Cells; Dog Diseases; Skin Neoplasms; Mastocytoma, Skin; Mutation; Proto-Oncogene Proteins c-kit; Cattle Diseases
PubMed: 38418393
DOI: 10.1111/vcp.13336