Introduction. Li-Fraumeni syndrome (LFS) is a hereditary familial predisposition to a wide range of certain, often rare malignant diseases. Patients also have an increased risk of developing secondary and even tertiary malignancies throughout their lifetime. The most common malignancies are soft-tissue and bone sarcomas, breast cancer, brain tumors, adrenocortical carcinoma, and acute leukemia. The syndrome is inherited as an autosomal dominant disorder. In most families with LFS, germline mutations of the tumor protein have been identified on the TP53 gene. To our knowledge, this is the second case report of LFS that has been reported in our country so far. Case report. We present five members of the same family with malignant diseases typical for LFS. A woman at the age of 21 had recurrent astrocytoma and mediastinal liposarcoma. Her older sister had rhabdomyosarcoma and liver cancer and died at the age of 18. The mother of their father was diagnosed with breast cancer at the age of 45, and she died at the age of 52. The father?s sister had osteosarcoma and died before the age of 40. The father was diagnosed with lung adenocarcinoma at the age of 49, two years after the death of his second daughter. Genetic analysis identified a pathogenic, heterozygous germline mutation of the TP53 gene. He also has a third, 8-year-old daughter for whom he denied testing for LFS. Conclusion. Genetic analysis for LFS of all family members is required in patients with rare and multiple malignancies but also frequent and early onset malignancies in the family. Screening for the detection of early cancer manifestation is the key to prolonged survival in people with LFS.

Introduction. Immunotherapy is associated with a wide range of adverse events. A drug-induced sarcoidosis-like reaction is a systemic granulomatous reaction that is no different from sarcoidosis and occurs in a certain temporal relationship with the initiation of the drug. Case report. The first presented patient was a 61-year-old male with stage IIIC BRAF-positive melanoma treated with adjuvant nivolumab therapy. After four cycles of therapy, enlarged mediastinal lymph nodes were confirmed using computed tomography. Bronchoscopy with bronchoalveolar lavage and transbronchial biopsy showed chronic granulomatous inflammation. After 12 cycles, grouped brownish-red papules and plaques covered with whitish scales were observed in the skin of both knees, and a histopathology finding indicated a sarcoidosis-like reaction. He was treated with oral prednisone, 60 mg daily in decreasing doses, and after 16 months, the enlarged mediastinal lymph nodes and skin lesions disappeared completely. The second presented patient was a 45-year-old male with stage IIIC BRAF-positive melanoma treated with adjuvant pembrolizumab therapy. After four cycles, enlarged mediastinal lymph nodes were observed. Bronchoscopy with bronchoalveolar lavage revealed granulomatous inflammation, and transbronchial biopsy confirmed sarcoidosis. Therapy with oral prednisone 40 mg daily in decreasing doses was performed in the next three months, and immunotherapy was continued. The enlarged mediastinal lymph nodes resolved after completion of adjuvant therapy. Conclusion. In most cases, a diagnosis of a sarcoidosis-like reaction requires a biopsy of the suspected lesions. It is not usually necessary to stop immunotherapy, but sometimes standard corticosteroid therapy is indicated. An interdisciplinary approach is important to distinguish true disease progression from adverse drug reaction.

Introduction. Basaloid follicular hamartoma (BFH) is a rare benign follicular malformation often clinically misdiagnosed. Patients with BFH demonstrate a variety of clinical manifestations and associated abnormalities. BFH may be a familial, congenital, or acquired condition with a localized or generalized distribution. Several clinical variants of generalized BFH are recognized, which may be associated with a diverse spectrum of abnormalities. Case report. We present two cases of solitary BFH in pediatric patients. The first patient was a 16-year-old boy with a history of autism spectrum disorder, admitted to our department for consultation due to a harmless dermal nevus on his face. The second patient was a six-yearold girl presented with a ten-month history of an asymptomatic, skin-colored papule located on the right nasolabial fold that gradually increased in size over time. Both cases were documented dermoscopically, and they were presented with a brief overview of the current literature. Conclusion. Considering the overlapping clinical, histological, and dermoscopic features of BFH with other benign and malignant lesions, its incidence in pediatric patients is probably higher than what is reported in the current literature.

Background: Immune checkpoint inhibitors (ICIs) are effective against melanoma, but are often limited by adverse events (AEs). We aimed to characterise the incidence, characteristics and predictors of AEs. Methods: This ambispective study included 141 patients with melanoma (165 ICI treatment episodes) treated between March 2017 and April 2026. Predictors of AE occurrence, seriousness and severity were analysed per treatment episode and per AE using generalised estimating equations. Results: We recorded 206 AEs in 95 patients (67.4%). At least one AE occurred in 59.8% of pembrolizumab, 59.5% of nivolumab and 81.0% of nivolumab/ipilimumab episodes. Most AEs were Grade 1–2 (88.3%); skin disorders were the most frequent (29.1%) and endocrine AEs had the lowest resolution rate (3.2%). Time to first AE was shortest with nivolumab/ipilimumab (p < 0.001). Per episode, nivolumab/ipilimumab was associated with more serious AEs than nivolumab (p = 0.042) and, borderline, than pembrolizumab (p = 0.051), and with Grade 3–4 AEs (p = 0.001); the lower odds of AE with monotherapy were not significant (p = 0.063, 0.242). Systemic treatment for unresectable disease was associated with AE occurrence (p = 0.029), serious (p = 0.009) and Grade 3–4 AEs (p = 0.016), and BRAF mutation with AE occurrence (p = 0.029). Conclusions: Patients receiving combination immunotherapy and those treated for unresectable disease may warrant closer monitoring.

Introduction. Pancreatic panniculitis is a rare type of lobular panniculitis that manifests as painful erythematous nodules on the skin of the lower extremities. Subcutaneous fat necrosis caused by the release of pancreatic enzymes is the underlying cause of the disease, affecting around 2 to 3% of patients with pancreatic diseases. Case report. We present a case of a 58-year-old male patient who exhibited painful erythematous nodules on the lower extremities and trunk. Laboratory results revealed increased levels of pancreatic enzymes, amylase, and lipase, as well as heightened levels of glucose and inflammation markers. The histological analysis of the skin lesion biopsy revealed the presence of predominantly lobular panniculitis in the hypodermis, areas of fatty tissue necrosis/saponification, and remnants of adipocytes (’’ghost cells’’). Abdominal CT scan demonstrated periampullary diverticulum of the duodenum, with no signs of pancreatitis or other pancreatic abnormalities. Esophagogastroduodenoscopy showed a wide opening of the periampullary diverticulum in the D2 segment of the duodenum. The patient was successfully treated with pancreatin therapy, resulting in a significant reduction of skin lesions and decreased levels of pancreatic enzymes. Conclusion. Pancreatic panniculitis can be caused by periampullary duodenal diverticula that exert pressure on the pancreatic duct, leading to elevated levels of pancreatic enzymes. Symptomatic duodenal diverticula may be treated with operative or non-operative measures, depending on the individual characteristics of the patient. Treatment of pancreatic panniculitis primarily involves addressing any underlying medical condition.

Nasopharyngeal carcinoma (NPC) with paraneoplastic dermatomyositis (DM) is an exceptionally rare clinical phenomenon, particularly among European populations. This case report details a 46-year-old woman initially diagnosed with DM, later confirmed to have NPC. Such an association is more frequently documented in Asian populations, highlighting its unique presentation in this case. The patient first developed symptoms in December 2016, which progressed significantly by spring 2017, manifesting as progressive proximal muscle weakness, characteristic skin changes, and elevated muscle enzyme levels. Diagnostic workup, including electromyography and biopsy, confirmed DM. Persistent symptoms and secondary DM suspicion prompted further malignancy screening, which identified undifferentiated NPC with strong Epstein–Barr virus RNA positivity. Multimodal treatment comprising corticosteroids, hydroxychloroquine, chemotherapy, and radiotherapy led to temporary symptomatic improvement. Despite initial success, the patient’s condition deteriorated, and she passed away by the end of 2018. This case underscores the importance of comprehensive malignancy screening in DM patients, considering rarer cancers like NPC even in non-endemic regions. It emphasizes the role of multidisciplinary care and adherence to international guidelines for managing such complex cases. Recognizing NPC-associated DM remains critical for early intervention and tailored therapeutic approaches to improve clinical outcomes and survival.