Unusual sites of bone involvement in Langerhans cell histiocytosis: a systematic review of the literature

Abstract

Background Langerhans cell histiocytosis (LCH) is a rare disease that originates from the uncontrolled proliferation and accumulation of bone marrow-derived immature myeloid dendritic cells. Dendritic cells are a type of histiocyte that play an important role in the human immune system and are found in the bone, skin, stomach, eyes, intestines, and lungs. Objective This systematic review aimed to collect and report published case reports of rare bone disease caused by LCH to avoid misdiagnoses or delays in diagnosis. Methods We systematically searched Scopus, PubMed, Embase, and Web of Sciences from August 1, 2000 to December 31, 2019. Studies reporting cases of LCH with rare bone involvement were included. Results We identified 60 articles including 64 cases. Of the identified cases, 31 (48.4%) involved children, and 33 (51.6%) involved adults. Additionally, 46.9% (30 individuals) were from Asian countries. The mean age of the children was 7.6 ± 4.3 years and that of the adults was 36 ± 12 years. The findings indicated that unifocal bone involvements were the most prevalent form of the disease (68.7%), and, overall, the skull and chest wall were the most commonly affected bones in both adults and children. The spine and long bones were the second most commonly affected bones in children, and the spine and jaw were the second most commonly affected bones in adults. Pain and swelling were the most frequent presenting signs among the investigated cases, and loss of consciousness, myelopathy, nerve palsy, visual loss, torticollis and clicking sounds were rare signs. Osteolytic lesions were the most frequent radiologic feature (62.5%), and intracranial hemorrhage, fluid–fluid level, dura and intracranial extension and pathologic fractures were rare radiological features. Total excision, curettage and observation in the unifocal group of patients and systemic chemotherapy in the other groups (i.e., multifocal and multisystem) were the most frequent management approaches. The recovery rates of the unifocal and multifocal groups were 77.3% and 81.8%, respectively, while that of the multisystem group was 55.5%. The rates of recurrence and mortality in the multisystem group were 11% and were higher than those in the other groups. Conclusions LCH is a rare disease that can affect any organ in the human body. However, bone is the most commonly involved organ, and rare bone involvements may be the first or only symptom of the disease due to the rarity of such lesions; a lack of familiarity with them may result in misdiagnosis or delayed diagnosis.

Radiologic findings that aid in the reduction of misdiagnoses of Langerhans cell histiocytosis of the bone: a retrospective study

“…In our study population, the male to female ratio was 1.5:1, which is roughly similar to previously reported ratios. The findings of Reisi., et al [ 12 ] revealed that the unifocal form was the most common form of bone involvement, which is similar to our findings. The clinical manifestations of LCH are diverse, and the most common clinical manifestation of patients with bone involvement is soft tissue mass accompanied by swelling or pain [ 4 ], which is consistent with our group.…”

“…Long bone LCH reportedly affects mainly the metaphysis or diaphysis, but does not affect the epiphysis [ 17 , 18 ]; in the present study, two patients were observed to have LCH involvement in the epiphysis. Reisi., et al [ 12 ] reported that the sternum, clavicle, scapula, and humerus were rare lesion locations. Similarly, they were rare in our study, with only 1 to 2 cases observed in each.…”

Integrative bioinformatics approaches to map key biological markers and therapeutic drugs in Extramammary Paget’s disease of the scrotum

“…Until now, EMPD is incurable and dramatically increases the morbidity as well as the mortality rate in developed countries. As the information pileup, the same scenario is predicted in the developing countries [14]. Multiple remedies such as imiquimod, 5% cream, or cytotoxic agent with 1% 5-fluorouracil cream [15,16] are available but all these revolve around the management of disease, however, the actual treatment is yet to be discovered.…”

Management of Corneal Clouding in Patients with Mucopolysaccharidosis

“…A 2021 study by Guffon et al [ 42 ] analyzed more than 30 years’ worth of data regarding 25 patients with MPS I (Hurler Syndrome) who were treated with HSCT. All 25 patients demonstrated some degree of corneal clouding.…”

“…In 84%, corneal clouding was diagnosed at a median age of 13 months, before HSCT had begun. Despite HSCT, corneal clouding progressed in all patients and approximately half underwent corneal transplant at a median age of 17.8 years [ 42 ].…”