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Erdheim-Chester disease (ECD) is classified as an inflammatory myeloid neoplasia that has an unknown origin and low incidence (∼600 cases described in the literature) ([1][1],[2][2]). ECD is multisystemic, affecting the bones, skin, ocular tissue, lungs, brain, pituitary gland, and other tissues

Highlights • The main complication of PLCH is the occurrence of pneumothorax (PTX) and tension bullae with subsequent recurrence and persistence despite conservative management. • Although it is difficult to treat recurrent PTX and tension bullae in advanced PLCH, continuous treatment of the primary disease (LCH) and the complications of pulmonary lesions can improve prognosis. • Positive-pressure ventilation should be performed with extreme caution in suspected PLCH., Introduction Pulmonary Langerhans cell histiocytosis (PLCH) is a well known entity in adults but is exceedingly rare in children. The main complication of PLCH is the occurrence of pneumothorax (PTX) and tension bullae with subsequent recurrence and persistence despite conservative management. Case presentation A 3-year-old child was diagnosed with PLCH with thyroid involvement. Chemotherapy was immediately initiated and continued with chest tube drainage for repeated bilateral PTX. Tension bullae developed in the right lung 1 month after initiating treatment. Emergency resection of the bullae and ligation of pulmonary cysts were performed. On the tenth postoperative day, she developed a tension bulla in the left lung. Emergency thoracotomy was performed. On the tenth postoperative day, chest X-ray and CT suggested return of the right bulla and mediastinal shift, and reoperation was performed. Repeated lung biopsy showed no sign of active LCH. Although her condition improved after the operation, subsequent repeated PTXs occurred and were difficult to treat. She was discharged home after four months. Currently, she is receiving maintenance therapy as an outpatient. During the 12-month follow-up, the pulmonary lesions also showed a tendency for improvement. Discussion Although it is difficult to treat recurrent PTX and tension bullae in advanced PLCH, continuous treatment of the primary disease (LCH) and the complications of pulmonary lesions can improve prognosis. Conclusion Treatment of PLCH accompanied by recurrent PTX and tension bullae is challenging. The condition can be resolved by treating the primary disease in parallel with combined modality treatment, including surgical operation for complications.

Langerhans cell histiocytosis (LCH) is a rare disorder arising from the abnormal proliferation and subsequent deposition of CD1a+ myeloid dendritic cells in various organs. Clinical features are heterogeneous and primarily depend on specific organ systems involved, ranging from skin rash and osteolytic skull lesions to treatment-refractory multiorgan failure in severe cases. Although LCH predominantly affects the pediatric population, an increasing number of adult-onset cases are being reported.1, 2 We describe the case of a 51-year-old man with disseminated (multisystem) LCH stemming from an in-frame, oncogenic BRAF mutation.

Langerhans cell histiocytosis (LCH) is a rare disorder characterized by an abnormal clonal proliferation of histiocytes, with adult-onset LCH accounting for an estimated 30% of cases.1 The clinical spectrum of LCH varies widely, from asymptomatic single-organ involvement to severe and potentially fatal multisystem disease. Although cutaneous lesions are frequently encountered, gastrointestinal involvement in LCH is exceedingly rare, especially in the adult population. Effective treatment for LCH is poorly characterized because of rarity and heterogeneity of the disease. Twenty percent to 60% of LCH cases harbor the BRAF V600E proto-oncogene mutation, and reports show favorable response to BRAF inhibitors in this population.2, 3, 4 Dabrafenib is a targeted therapy that selectively inhibits the extracellular signal–related kinase pathway in patients with BRAF V600E mutated malignancies.5 Here we describe a case of adult primary cutaneous LCH with late-onset gastrointestinal involvement responsive to dabrafenib.

Erdheim-Chester disease (ECD) is a rare, systemic, non–Langerhans cell histiocytosis (non-LCH). Diagnosis is based on a combination of specific radiologic, histologic, and clinical findings. Although there have been hundreds of prior reports of ECD, very few cases have described the spectrum of potential cutaneous manifestations.1, 2, 3, 4 Most of these cases describe ECD skin findings as xanthelasmalike lesions surrounding the periorbital area,1, 2 whereas 2 patients were reported to have a red-brown papular eruption affecting the chest and lower extremities.3, 4 We discuss a case of a 45-year-old woman with an extensive childhood history of LCH who then presented more than 20 years later with a new eruption of polymorphous skin lesions distributed over the face, trunk, arms, and legs. These lesions were clinically varied yet histologically all consistent with xanthogranulomas. Upon further workup, the patient was found to have specific radiographic findings pathognomonic for ECD and a BRAF V600E mutation, which has been reported in both LCH and ECD. Our case is unique, in that this patient was affected by both diseases within her lifetime. Identification of the BRAF V600E mutation suggests the possibility of a common origin between LCH and ECD.

Rosai-Dorfman disease (RDD) is a benign histiocytic proliferation that most commonly presents with painless bilateral lymphadenopathy and constitutional symptoms such as fever, fatigue, and night sweats.1 RDD is considered by many to be a reaction pattern with several different manifestations, especially as clonality has not been documented to support it representing a neoplasm per se. Classic histologic features include histiocytes that are S100 protein positive, are CD1a−, and demonstrate emperipolesis. Cutaneous lesions can occur in about 10% of patients, however, RDD limited only to cutaneous involvement is particularly rare.2, 3 Moreover, concomitant cutaneous RDD (CRDD) and bone RDD has rarely been reported in the English-language literature.4, 5 Here, we presented a case of CRDD on the scalp with underlying bony involvement.

Langerhans cell histiocytosis (LCH) identifies a spectrum of disorders that are classified according to the organs involved (single- or multi-organ disease) and the presence or absence of organ failure. Patients younger than 2 years with a multisystem disease have a significantly higher mortality rate than older children.1 Nail involvement in LCH is extremely uncommon and rarely reported. To our knowledge, 18 cases have been documented in the literature to date. According to most cases reported, it is thought to indicate a poor prognosis.2, 3, 4, 5, 6 We report the case of a child with nail lesions, which led to a diagnosis of LCH.

Birt-Hogg-Dubé syndrome, initially described in 1977, is an autosomal dominant inherited condition characterised by basal pulmonary cysts often resulting in pneumothorax, renal tumours and cutaneous involvement. Lung cysts have been described in up to 90% of patients with a corresponding risk of pneumothorax of 50 times greater than the normal population. We describe here a case of Birt-Hogg-Dubé diagnosed in the 9th decade of life and discuss the radiological findings and clinical implications.

We describe a 2 ½ year old boy presenting with fever, abdominal pain and splinter haemorrhages of the nails. On further examination there were signs of pneumonia with pleural effusion. This was treated with mini-thoracotomy, drainage and intravenous antibiotics. Further diagnostic workup for underlying causes showed diffuse cystic lung disease, suggestive of Langerhans cell histiocytosis. This was confirmed on pathology specimens, which showed Langerhans cells in lung tissue, nail bed and skin biopsy samples, indicating multisystem Langerhans cell histiocytosis. The patient was treated with Prednisone and Vinblastin according to the LCH-III guidelines. In this case report we give a brief description on cystic lung disease in children, Langerhans cell histiocytosis and associated nail abnormalities.