INTRODUCTION

Diffuse cutaneous mastocytosis (DCM) is a rare and severe form of cutaneous mastocytosis which may present in the neonatal period; thus early recognition is essential. Symptoms of mastocytosis are exacerbated by mast cell degranulating agents more commonly from heat, friction, local trauma, drugs and food. This is a case of DCM presenting with bullous eruptions after immunization.

CASE REPORT

An 11-month-old boy presented with generalized erythematous to hyperpigmented macules and patches initially at birth, with progression to bullous eruptions immediately after immunization without any systemic symptoms. Biopsy revealed superficial and deep mixed cell infiltrates consisting of lymphocytes, histiocytes and numerous mast cells. Giemsa stain highlighted the metachromatic mast cell granules. Serum tryptase was elevated by 13 times (130 ug/L). The patient was prescribed oral antihistamines and topical steroids that offered good response. Avoidance of all potential triggers was instructed.

DISCUSSION

The extensive cutaneous involvement in DCM (generalized erythema, diffuse papules that develop pachyderma, darker skin, peau d’orange) are due to the diffuse infiltration of the dermis with mast cells, accompanied with an elevated serum tryptase.

Unique to this local case are exacerbations triggered by vaccination. There is literature to support evidence of vaccination reactions to pentavalent vaccine in children with DCM though the pathway associated with mast cell degranulation after immunization has not yet been specified.

It is advised that patients with DCM follow scheduled immunization guidelines with precautionary measures.

Human ; Male ; Infant: 1-23 Months ; Wounds And Injuries ; Research Report ; Pharmaceutical Preparations ; Mastocytosis, Cutaneous ; Hot Temperature

BACKGROUND

Carney complex (CNC) is a rare multiple endocrine neoplasia syndrome caused by PRKAR1A gene mutation and  characterized by lentigines, myxomatous tumors and various endocrine neoplasms.

CASE PRESENTATION

This is a case of a 52-year-old male patient who underwent echocardiogram for intermittent palpitations and near-syncopal attack, which revealed a left atrial myxoma. The patient also exhibited multiple lentigines and had a history of histologicallyconfirmed papillary thyroid carcinoma. Surgical excision and subsequent histopathologic examination confirmed cardiac myxoma, fulfilling three major Stratakis criteria for CNC.

DISCUSSION

This case highlights the importance of a thorough history and physical examination with a strong understanding of the syndrome’s features being key to recognizing the disease. Increasing awareness and reinforcing knowledge of CNC are crucial for preventing misdiagnosis and ensuring effective management of this rare condition. To our knowledge, this is the first published case report of CNC in the Philippines, emphasizing the need for heightened regional awareness.

CONCLUSION

CNC may present with subtle or nonspecific symptoms and atypical tumor locations. Early recognition through a high index of suspicion, targeted imaging and a multidisciplinary approach is critical to optimize outcomes and guide family screening in this rare syndrome.

Human ; Male ; Middle Aged: 45-64 Yrs Old ; Multiple Endocrine Neoplasia ; Carney Complex ; Myxoma ; Syndrome ; Neoplasms ; Mutation ; Lentigo ; Genes

Primary malignant bone tumors are extremely rare. Osteosarcoma, chondrosarcoma, Ewing's sarcoma, and myeloma are the most common malignancy in bone. Osteosarcoma and Ewing's sarcoma are common in children and adolescents, and the tumors are high lethality due to the high rate of pulmonary metastasis. While chondrosarcoma, myeloma, and chordoma are more common in middle aged and elderly people. Japanese Orthopaedic Association (JOA) published the secondary clinical practice guideline on the management of primary malignant bone tumors. We put an emphasis on explanation some important issue of this guideline for help Chinese musculoskeletal tumor professionals in clinical practice.
Humans ; Bone Neoplasms/surgery* ; Chondrosarcoma/therapy* ; Japan ; Orthopedics ; Osteosarcoma/pathology* ; Practice Guidelines as Topic ; Sarcoma, Ewing/therapy* ; Societies, Medical

Invasive angiomyxoma（AAM） is characterized by unclear boundaries, non enveloped glial growth, high recurrence rate, and belongs to a benign tumor, but it is invasive and grows slowly. A patient with recurrent left vestibular invasive angiomyxoma was admitted to the Otorhinolaryngology ward of Beijing Traditional Chinese Medicine Hospital Affiliated with Capital Medical University. The patient underwent two repeated surgeries and underwent a combined internal and external nasal approach for the removal of the nasal vestibular angiomyxoma. The patient recovered well after the surgery and has not recurred since follow-up.
Humans ; Myxoma/pathology* ; Neoplasm Recurrence, Local ; Nose Neoplasms/pathology*

Osteosarcoma (OS), chondrosarcoma (CS), and Ewing sarcoma (ES) represent primary malignant bone tumors and pose significant challenges in oncology research and clinical management. Conventional research methods, such as two-dimensional (2D) cultured tumor cells and animal models, have limitations in recapitulating the complex tumor microenvironment (TME) and often fail to translate into effective clinical treatments. The advancement of three-dimensional (3D) culture technology has revolutionized the field by enabling the development of in vitro constructed bone tumor models that closely mimic the in vivo TME. These models provide powerful tools for investigating tumor biology, assessing therapeutic responses, and advancing personalized medicine. This comprehensive review summarizes the recent advancements in research on 3D tumor models constructed in vitro for OS, CS, and ES. We discuss the various techniques employed in model construction, their applications, and the challenges and future directions in this field. The integration of advanced technologies and the incorporation of additional cell types hold promise for the development of more sophisticated and physiologically relevant models. As research in this field continues to evolve, we anticipate that these models will play an increasingly crucial role in unraveling the complexities of malignant bone tumors and accelerating the development of novel therapeutic strategies.
Bone Neoplasms/pathology* ; Humans ; Osteosarcoma/pathology* ; Tumor Microenvironment ; Sarcoma, Ewing/pathology* ; Chondrosarcoma/pathology* ; Animals ; Cell Culture Techniques/methods* ; Cell Culture Techniques, Three Dimensional/methods* ; Cell Line, Tumor

Mastocytosis is a rare disorder that results from the clonal proliferation of abnormal mast cells which accumulates in the skin and extracutaneous organs. Its prevalence is estimated at 1 in 10,000 persons. Cutaneous mastocytosis occurs in less than 5% of adults while adult-onset mastocytosis is suggestive of systemic progression. Involvement of the gastrointestinal tract occurs in 14-85% of patients diagnosed with systemic mastocytosis. This case involves a 72-year-old female previously diagnosed with cutaneous mastocytosis who presented with gastrointestinal symptoms fifteen years later. Workups done included CT scan, colonoscopy, and bone marrow aspiration. Colonic and bone marrow tissue samples revealed eosinophilia with CD117 positivity. The patient was started on therapy with imatinib. No recurrence of hematochezia was observed on follow-up.

Human ; Female ; Aged: 65-79 Yrs Old ; Mastocytosis, Systemic ; Imatinib ; Imatinib Mesylate

Dermatofibroma (DF) is a common, benign fibrohistiocytic tumor with unknown pathogenesis. There are multiple uncommon histologic variants of DF reported in literature, one of which is hemosiderotic DF. It can variably present as a pigmented papule or nodule commonly located on the lower extremities. Hemosiderotic DF remains to be underreported in the Philippines despite the widely available dermatopathology services in the country.
Human ; dermatofibroma ; histiocytoma, benign fibrous

Telangiectasia macularis eruptiva perstans (TMEP) represents a rare form of cutaneous mastocytosis, which is clinically characterized by reddish-brown telangiectatic macules symmetrically distributed over the trunk and extremities. Although in the majority of cases the disease is limited to the skin, systemic involvement may occur. Treatment is often challenging due to lack of an established first-line therapy and as such is primarily focused on symptomatic relief. This case describes a 45-year-old Filipino Female with chronic refractory TMEP.

Human ; Female ; Middle Aged: 45-64 Yrs Old ; Mastocytosis, Cutaneous ; Telangiectasia Macularis Eruptiva Perstans

In light of the lack of reliable molecular markers for odontogenic myxoma (OM), the detection of copy number variation (CNV) may present a more objective method for assessing ambiguous cases. In this study, we employed multiregional microdissection sequencing to integrate morphological features with genomic profiling. This allowed us to reveal the CNV profiles of OM and compare them with dental papilla (DP), dental follicle (DF), and odontogenic fibroma (OF) tissues. We identified a distinct and robustly consistent CNV pattern in 93.75% (30/32) of OM cases, characterized by CNV gain events in chromosomes 4, 5, 8, 10, 12, 16, 17, 20, and 21. This pattern significantly differed from the CNV patterns observed in DP, DF, and OF. The Kyoto Encyclopedia of Genes and Genomes (KEGG) analysis indicated potential links between this CNV patterns and the calcium signaling pathway and salivary secretion, while Gene Ontology (GO) term analysis implicated CNV patterns in tumor adhesion, tooth development, and cell proliferation. Comprehensive CNV analysis accurately identified a case that was initially disputable between OF and OM as OM. Our findings provide a reliable diagnostic clue and fresh insights into the molecular biological mechanism underlying OM.
Humans ; DNA Copy Number Variations ; Odontogenic Tumors/diagnosis* ; Myxoma/genetics* ; Female ; Male ; Adult ; Adolescent ; Middle Aged ; Dental Papilla ; Young Adult ; Fibroma/genetics* ; Dental Sac ; Child

Objective:To explore the surgical techniques and clinical outcomes of endoscopic transnasal approaches in the treatment of skull base chondrosarcomas. Methods:Data from patients diagnosed with skull base chondrosarcomas and treated via endoscopic transnasal surgery at the Department of Otorhinolaryngology and Head and Neck Surgery, Xuanwu Hospital, Capital Medical University, from 2013 to 2022 were collected. This retrospective study analyzed the patients' clinical presentations, histopathological grading, involved sites and extents, and complications following the endoscopic transnasal surgery. Disease-free survival rates were calculated using the Kaplan-Meier method. Results:Complete data from 31 patients showed that the primary tumor site was in the petroclival region in 27 cases（87%）, and the anterior skull base in 4 cases（13%）. Pathological grades were Grade Ⅰ（12 cases）, Grade Ⅱ（16 cases）, and Grade Ⅲ（3 cases）. Total resection was achieved in 25 cases, with residual disease post-surgery in 6 cases. The average follow-up duration was 35.7 months（ranging from 6 to 120 months）. Among those who achieved complete resection, recurrence occurred in 5 cases（5/25）, with a five-year disease-free survival rate of 80%. Postoperative complications included transient abducens nerve palsy in 6 patients and cerebrospinal fluid rhinorrhea in 4 patients. There were no cases of death or permanent cranial nerve palsy. Total resection rate（P=0.001） and involvement of the cerebellopontine angle and jugular foramen（P=0.037） were identified as independent risk factors for residual disease and recurrence of chondrosarcoma. Conclusion:The endoscopic transnasal approach is a safe and feasible treatment option for skull base chondrosarcomas.
Humans ; Chondrosarcoma/surgery* ; Skull Base Neoplasms/surgery* ; Retrospective Studies ; Male ; Female ; Endoscopy/methods* ; Middle Aged ; Skull Base/surgery* ; Treatment Outcome ; Adult ; Neoplasm Recurrence, Local ; Disease-Free Survival ; Nose/surgery*