Langerhans Cell Histiocytosis Presenting with Pneumothorax and Diabetes Insipidus.

Secondary spontaneous pneumothoraces occur in patients with known underlying lung disease. Patients with emphysema, bullae, and cystic lesions in the lungs are at high risk of developing pneumothorax. Cystic lung diseases like Langerhans cell histiocytosis (LCH) can present with complications like pneumothorax. Other common presenting features include maculopapular rashes and bone lesions. It can also be associated with endocrinopathies, most commonly central diabetes insipidus (CDI). We here present a case of a 22-year-old male who presented with pneumothorax, polyuria, and polydipsia. He was diagnosed with LCH on transbronchial lung biopsy, associated with CDI, and was treated with thoracoscopy-guided autologous blood patch for persistent air leak and subcutaneous cytarabine.

Histiocitosis de células de Langerhans en un paciente con lesión perianal. Caso clínico / Langerhans cell histiocytosis in a patient with perianal lesion. A case report

La histiocitosis de células de Langerhans es una expresión de células dendríticas mieloides, asociada a un componente inflamatorio significativo y compromiso sistémico variado. La edad más frecuente de presentación es entre 1 y 4 años, y predomina en el sexo masculino. Se comunica el caso de un niño de 5 años de edad cuya forma de presentación fue una lesión granulomatosa con fístula perianal, afectación pulmonar y de oído externo. El abordaje interdisciplinario permitió llegar al diagnóstico, realizar las intervenciones necesarias e iniciar el tratamiento adecuado.

Langerhans cell histiocytosis is an expression of myeloid dendritic cells, associated with a significant inflammatory component and varied systemic involvement. The most common age at presentation is between 1 and 4 years, and it prevails among male subjects. Here we describe the case of a 5-year-old boy who presented with a granulomatous lesion with perianal fistula and lung and external ear involvement. An interdisciplinary approach helped to make a diagnosis, provide the necessary interventions, and start an adequate treatment.

Langerhans Cell Histiocytosis in Sphenoid Sinus: Uncommon Bone Involvement.

BACKGROUND Langerhans cell histiocytosis (LCH) is a rare and uncontrolled proliferation of dendritic cells of myeloid origin. The incidence of LHC was estimated at 5 cases per million children ages 0-15 years old. The most common places for this tumor are the jaw, vertebra, pelvis, and the extremities. The disease with multisystem involvement can present a mortality rate of 20% and one-third of children have multisystem involvement. We present a case with unusual bone involvement of the anterior cranial base with a challenging diagnosis and a complex surgical approach. CASE REPORT We report the case of a 6-year-old boy who manifested the disease with daily holocranial headache, worse in the frontal region and refractory to analgesia for 10 days, strabismus homonymous, diplopia, and right palpebral ptosis. The tumor affected the sphenoid sinus, internal carotid artery, and sella turcica, and made contact with the pituitary gland. A joint surgery with Otorhinolaryngology and Neurosurgery was performed by nasal endoscopic access to the skull base by means of the right medial turbinectomy (for the access) and right sphenoid opening, septectomy and opening of the left sphenoid to work with 4 hands and, after resection of lesion, inside the sphenoid. CONCLUSIONS This patient had rare bone involvement from LCH and atypical clinical presentation next to the important and delicate structures of the anterior skull base, but had a satisfactory outcome.

Clinical features and treatment outcomes of liver involvement in paediatric Langerhans cell histiocytosis.

Langerhans cell histiocytosis (LCH) is the most common histiocytic disorder in children, and liver involvement in LCH is rare. This retrospective study reported the clinical features and prognosis of patients with hepatic LCH. Liver involvement was defined by histopathological findings, liver dysfunction or abnormalities, or ultrasound imaging. A total of 130 patients (14.5%) with hepatic LCH out of 899 in the LCH population were enrolled. Patients with liver involvement had greater frequencies of skin, lung, hearing system, and haematologic system involvement, and hemophagocytic lymphohistiocytosis (P<0.001, 0.001, 0.002, 0.009, and <0.001, respectively). Overall survival and progression-free survival were lower in LCH patients with liver involvement than in those without liver involvement (P<0.001 and <0.001). In patients with liver involvement, the overall survival (OS) and progression-free survival (PFS) rates were lower in patients with cholangitis than in those without cholangitis (P<0.020 and 0.030). For the treatment response, the response rate of hepatic LCH patients to initial first-line therapy (n=89) was 22.5%. However, there was no significant difference in the response rate or recurrence rate between patients who shifted from first-line treatment to second-line treatment (n=29) or to targeted therapy (n=13) (P=0.453 and 1.000). The response rate of hepatic LCH patients who received initial second-line therapy (n=13) was 38.5%. Two of these patients subsequently experienced bone recurrence. The response rate of hepatic LCH patients who received initial targeted therapy (n=16) was 75.0%. Three patients subsequently experienced recurrence, including 2 in the bone and 1 in the liver and skin. A total of 39.3% of patients who received second-line treatment had severe myelosuppression (grade III-IV), and 50.8% had varying degrees of gastrointestinal events, whereas there was no severe toxicity in patients who received first-line treatment and targeted therapy. Four patients underwent liver transplantation because of liver cirrhosis. The patients' liver disease improved within a follow-up period of 18-79 months. This study demonstrated that LCH with liver involvement, especially cholangitis, indicates a poor prognosis. Targeted therapy provides a good treatment response and less toxicity. However, it may relapse after withdrawal. Liver transplantation is still a reliable salvage option for patients with end-stage liver disease.

Smoking-Related Interstitial Lung Disease and Emphysema.

Diagnosis and treatment of patients with smoking-related lung diseases often requires multidisciplinary contributions to optimize care. Imaging plays a key role in characterizing the underlying disease, quantifying its severity, identifying potential complications, and directing management. The primary goal of this article is to provide an overview of the imaging findings and distinguishing features of smoking-related lung diseases, specifically, emphysema/chronic obstructive pulmonary disease, respiratory bronchiolitis-interstitial lung disease, smoking-related interstitial fibrosis, desquamative interstitial pneumonitis, combined pulmonary fibrosis and emphysema, pulmonary Langerhans cell histiocytosis, and E-cigarette or vaping related lung injury.

Juvenile xanthogranuloma manifesting with LCH-associated neurodegenerative disease-like radiological findings.

Here, we describe two patients with juvenile xanthogranuloma (JXG) manifesting with Langerhans cell histiocytosis (LCH)-associated neurodegenerative disease (ND)-like radiological findings. One patient showed typical radiological abnormalities at onset, which worsened with progressing central nervous system symptoms 7 years after LCH-oriented chemotherapy. Another showed spontaneous regression of clinical symptoms, with a transient radiological change 1 year after salvage chemotherapy for recurrence of JXG. These data regarding JXG-associated ND will facilitate future investigation of the disease, as well as development of therapeutic interventions.

Langerhans cell histiocytosis in children with refractory diarrhoea and hypoalbuminaemia as the initial presentation: two case reports and a literature review.

Langerhans cell histiocytosis (LCH) involving the gastrointestinal tract is a rare condition for which clinical experience is limited. We describe the cases of two patients who initially presented with chronic diarrhoea, hypoproteinaemia, and intermittent fever. These findings suggest that in cases of refractory diarrhoea accompanied by recurrent hypoalbuminaemia, especially with abdominal rash, LCH should be considered. Gastrointestinal endoscopy, biopsy, and imaging studies are essential for obtaining a definitive diagnosis. This approach might be helpful for the early recognition of gastrointestinal tract involvement in LCH.

Coexistence of Langerhans Cell Histiocytosis and Ganglioneuroblastoma Revealed by 18 F-FDG PET/CT in a Pediatric Patient.

ABSTRACT: Coexistence of Langerhans cell histiocytosis and ganglioneuroblastoma is rare and seldom reported in the literature. A 3-year-old girl with Langerhans cell histiocytosis underwent 18 F-FDG PET/CT imaging for staging, which demonstrated significant 18 F-FDG accumulation in the mandibles. Unexpectedly, a mild hypermetabolic soft mass was detected in the upper retroperitoneum. Results of surgical pathology of the abdominal mass were consistent with ganglioneuroblastoma.

Pediatric neck pain of a 10-year-old child with cervical spinal tumor evaluated and managed in direct access physical therapy: a case report.

INTRODUCTION: Differential diagnosis of pediatric neck pain requires age-appropriate communication and assessment tools. Recognizing these age-related nuances is critical, emphasizing the role of physical therapists in assessing and managing pediatric patients while ruling out severe pathologies. CASE DESCRIPTION: A 10-year-old male presented to physical therapy with a five-week history of increasing neck pain. A thorough history and segmental cervical examination considering the patient's age and development, led to patient referral to the emergency department. This case underscores the significance of comprehensive evaluation in pediatric neck pain management. OUTCOMES: The patient was diagnosed with Langerhans Cell Histiocytosis (LCH). LCH primarily affects children and is treated with chemotherapy. Chemotherapy reduced the tumor, revealing C2 vertebral body damage. The patient underwent C1-C3 fusion surgery, a standard procedure for atlanto-occipital region stabilization in children. The patient was advised to restrict motion for 6 months while monitoring for tumor growth. DISCUSSION-CONCLUSION: Pediatric neck cancer presents diagnostic challenges due to varied symptoms, but research highlights specific indicators to assist with differential diagnosis. This case emphasizes the need to recognize the complexities of pediatric neck pain and perform a thorough age-appropriate evaluation.

Langerhans cell histiocytosis of the thyroid mimicking thyroiditis in a boy: a case report and literature review.

BACKGROUND: Langerhans cell histiocytosis affecting the thyroid commonly presents with nonspecific clinical and radiological manifestations. Thyroid Langerhans cell histiocytosis is typically characterized by non-enhancing hypodense lesions with an enlarged thyroid on computed tomography medical images. Thyroid involvement in LCH is uncommon and typically encountered in adults, as is salivary gland involvement. Therefore, we present a unique pediatric case featuring simultaneous salivary and thyroid involvement in LCH. CASE PRESENTATION: A 3-year-old boy with complaints of an anterior neck mass persisting for 1 to 2 months, accompanied by mild pain, dysphagia, and hoarseness. A physical examination revealed a 2.5 cm firm and tender mass in the left anterior neck. Laboratory examinations revealed normal thyroid function test levels. Ultrasonography revealed multiple heterogeneous hypoechoic nodules with unclear and irregular margins in both lobes of the thyroid. Contrast-enhanced neck computed tomography revealed an enlarged thyroid gland and bilateral submandibular glands with non-enhancing hypointense nodular lesions, and multiple confluent thin-walled small (< 1.5 cm) cysts scattered bilaterally in the lungs. Subsequently, a left thyroid excisional biopsy was performed, leading to a histopathological diagnosis of LCH. Immunohistochemical analysis of the specimen demonstrated diffuse positivity for S-100, CD1a, and Langerin and focal positivity for CD68. The patient received standard therapy with vinblastine and steroid, and showed disease regression during regular follow-up of neck ultrasonography. CONCLUSIONS: Involvement of the thyroid and submandibular gland as initial diagnosis of Langerhans cell histiocytosis is extremely rare. It is important to investigate the involvement of affected systems. A comprehensive survey and biopsy are required to establish a definitive diagnosis.

Pediatric paravertebral tumors: analysis of 96 patients.

PURPOSE: The most important complication of paravertebral tumors is cord compression (CC), which is an oncologic emergency. Early and appropriate intervention is important in terms of reducing morbidity and mortality. Here, we report our clinical experience with paravertebral tumors. METHODS: The files of patients who were followed up for benign/malignant paravertebral tumors between 1988 and 2022 were evaluated retrospectively. RESULTS: There were 96 patients with paravertebral tumors. The median age at diagnosis was 5 years (1 month-17 years). The male/female ratio was 1.13. The median time to diagnosis was 4 weeks (0-28 weeks). The most common presenting complaint was pain (62.5%). The diagnosis distribution was as follows: sympathetic nervous system (SNS) tumors (n: 38), soft tissue sarcomas (STS) (n: 23), Langerhans cell histiocytosis (LCH) (n: 12), central nervous system (CNS) tumors (n: 9), germ cell tumor (n: 6), lymphomas (n: 4), and benign tumors (n: 4). Sixty-five patients (67.7%) had CC, 40% of whom received chemotherapy as first-line treatment. Decompression surgery was performed in 58.5% of the patients. For patients with CC, 26 patients had advanced disease at admission. Serious neurologic sequelae were observed in seventeen (17.7%) patients. CONCLUSION: Pain and neurological findings in childhood are warning signs for paravertebral tumors and CC. A detailed neurologic examination and radiodiagnostic imaging should be performed, and a definitive diagnosis should be made quickly. Anticancer treatment should be planned multidisciplinary. Decompression surgery should be discussed for patients with severe neurological deficits. Childhood cancers are chemosensitive; if possible, treatment should be initiated with chemotherapy to avoid neurological sequelae.

Concurrent Langerhans Cell Histiocytosis and Acute Myeloid Leukemia Without Clonal Relationship.

This case report describes a woman in her 30s who had been treated with chemotherapy and presented with Langerhans cell histiocytosis and acute myeloid leukemia (AML).

Early chemotherapeutic intervention to avoid thyroidectomy in pediatric Langerhans cell histiocytosis with thyroid involvement accompanying tracheal stenosis: a report of two cases.

Thyroid involvement is rare in pediatric Langerhans cell histiocytosis (LCH). It may cause airway narrowing, leading to acute-onset respiratory distress. Severe cases may require emergent surgical interventions such as thyroidectomy, which should be avoided in children due to higher rates of complication, particularly in infancy. There is currently no consensus on the indications for surgical treatment in LCH with thyroid involvement. In this report, we describe the cases of two children who presented with tracheal stenosis caused by thyroid LCH, both of which were successfully treated by early induction of chemotherapy, and one of which was also treated for a shorter duration. Mutation analysis detected in-frame deletions of BRAF exon 12 in both cases. These cases suggest that timely diagnosis and administration of chemotherapy may alleviate severe airway obstruction and reduce the need for thyroidectomy in pediatric patients with thyroid LCH.

Langerhans cell histiocytosis in a patient with perianal lesion. A case report. / Histiocitosis de células de Langerhans en un paciente con lesión perianal. Caso clínico.

Langerhans cell histiocytosis is an expression of myeloid dendritic cells, associated with a significant inflammatory component and varied systemic involvement. The most common age at presentation is between 1 and 4 years, and it prevails among male subjects. Here we describe the case of a 5-year-old boy who presented with a granulomatous lesion with perianal fistula and lung and external ear involvement. An interdisciplinary approach helped to make a diagnosis, provide the necessary interventions, and start an adequate treatment.

La histiocitosis de células de Langerhans es una expresión de células dendríticas mieloides, asociada a un componente inflamatorio significativo y compromiso sistémico variado. La edad más frecuente de presentación es entre 1 y 4 años, y predomina en el sexo masculino. Se comunica el caso de un niño de 5 años de edad cuya forma de presentación fue una lesión granulomatosa con fístula perianal, afectación pulmonar y de oído externo. El abordaje interdisciplinario permitió llegar al diagnóstico, realizar las intervenciones necesarias e iniciar el tratamiento adecuado.

Pediatric pulmonary multisystem langerhans cell histiocytosis: does lung lesion severity affect the outcome?

BACKGROUND: The pediatric pulmonary multisystem Langerhans cell histiocytosis (PPM LCH) is associated with either low risk or high risk organ(s). The nodulo-cystic lung lesions although pathognomonic, yet are very variable in severity and remain a source of controversy in certifying pulmonary LCH diagnosis. The study aimed to examine the prognostic value of clinical respiratory manifestations and radiological lung lesions severity. This is through associating a CT chest triad of bilateral, extensive and diffuse lesions. It is a retrospective study of 350 LCH patients who received systemic treatment at Children's Cancer Hospital Egypt during the period from 2007 to 2020. RESULTS: Sixty-seven patients (67/350-19.1%) had PPM LCH at presentation. Severe lung lesions were present in 24 of them. The median follow-up period was 61 months (IQR: 3.4-8.3). The 5-year overall survival (OS) and event free survival (EFS) was 89% and 56.6% respectively. The EFS, for severe radiological lesions triad was 38% ± 20.7 versus 66% ± 16.2 for non-severe lesions triad p 0.002, while for presence of chest X-ray changes 27% ± 22.344 versus absence of chest X ray changes 66% ± 14.7 p 0.001, for clinical respiratory manifestations 13% ± 13.9 versus none 62% ± 22.9 p < 0.001, for RO- with severe lung lesions 47% ± 30.4 versus RO- without severe lung lesions 69% ± 5.9 p 0.04. There was a tendency for the independent prognostic impact of severe lung involvement; aHR = 1.7 (95% CI 0.92-3.13, p = 0.09). CONCLUSION: Although the lung is a low -risk organ per se in LCH, our study demonstrates a non negligeable prognostic impact of severe lung involvement in the risk stratification of pediatric LCH. This warrants further study and external validation.

Single-system pulmonary langerhans cell histiocytosis with only tracheobronchial involvement: a case report.

BACKGROUND: Pulmonary Langerhans cell histiocytosis (PLCH) only with airway involvement manifested as diffuse thickening of the tracheobronchial walls is rare. CASE REPORT: A 26-year-old male was admitted to the hospital with progressive wheezing, cough, and a source of blood in sputum after activity. He had no history of smoking. Chest computed tomography showed airway stenosis of different degrees with tracheobronchial wall thickening, and fiberoptic bronchoscopy demonstrated multiple nodular neoplasms in tracheobronchial, while the pulmonary parenchyma was normal. The patient's condition partially improved after excision of partial lesions by fiberoptic bronchoscope. Histopathological results showed that CD1a and S-100 immunohistochemical staining was positive, and the molecular pathological results suggested that the BRAF V600E mutation, thus confirming the diagnosis of PLCH. The treatment of partial resection and systemic chemotherapy is effective. CONCLUSIONS: The possibility of PLCH needs to be considered when diffuse tracheobronchial lesions without lung parenchyma involvement are encountered, which provides experience for early clinical diagnosis and adequate treatment.

[Combined histiocytosis of the Langerhans group (Langerhans cell histiocytosis and Erdheim-Chester disease) in a 64-year-old man with BRAF and NRAS mutations: a case report]. / Histiocitosis combinada de tipo Langerhans (Histiocitosis de células de Langerhans y enfermedad de Erdheim-Chester) en varón de 64 años con mutaciones en BRAF y NRAS: a propósito de un caso.

We present a case of a 64-year-old male with a history of Crohn's disease who presented with an episode of acute abdominal pain. He was being investigated for a dermatological lesion. A skin and lung biopsy both revealed histiocytosis of the "L" (Langerhans) group. The skin biopsy showed a proliferation of histiocytic cells expressing Langerin, CD1a and S100 and the molecular study was positive for the BRAF p.V600E mutation. In the lung biopsy, a proliferation of histiocytic cells was found, which were positive for CD68 and S100 and negative for Langerin and CD1a; mutations in NRAS c.38G>A in exon 2 (p.G13D) were also detected.

Langerhans cell histiocytosis with aneurysmal bone cyst-like changes: a case-based literature review.

BACKGROUND: Langerhans cell histiocytosis (LCH) is a neoplastic transformation of myeloid precursors that commonly presents as an osteolytic lesion of the long or flat bones in children. Aneurysmal bone cysts (ABC) are benign neoplasms that frequently affect the metaphysis of long bones and the spine, often revealing a rapidly expansile lesion with fluid-fluid levels. LCH with secondary ABC-like changes is a rare condition that has only been reported five times, with two presentations in the cranium. The aim of this paper is to review the etiology, clinical and radiographic presentations, and treatment of this condition, as well as to present a novel case on the topic. CASE DESCRIPTION: We describe a 5-year-old boy with a rapidly growing head mass and eye pain resulting in a diagnosis of LCH with secondary ABC-like changes. Radiography demonstrated an expansile, lytic lesion of the left parietal bone with fluid-fluid levels. A confirmatory diagnosis was made through histopathology, demonstrating an inflammatory, histiocytic infiltrate staining positive for CD1a, CD68, CD207 (Langerin), and S-100. The lesion was surgically excised, and the patient recovered without any complications. CONCLUSION: We present a novel case of LCH with secondary ABC-like changes managed with surgical excision. While a radiographic workup with multiple imaging modalities is helpful for diagnosis, a thorough immunohistochemical analysis is essential as imaging characteristics are variable and nonspecific. Furthermore, surgical excision should be considered first-line treatment for lesions involving the skull in surgically accessible areas as it is curative, alleviates symptoms, and allows for histopathological diagnosis.