Retrospective study of Langerhans cell histiocytosis in ear, nose and neck

Guo, Yan; Ning, Fei; Wang, Guojian; Li, Xiaohong; Liu, Jisheng; Yuan, Yongyi; Dai, Pu

doi:10.1016/j.amjoto.2019.102369

Cited by 10 publications

(7 citation statements)

References 17 publications

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“…We report the case of a 2-year-old child with LH with bilateral temporal bone involvement associated with central pituitary involvement responsible for diabetes insipidus. Rare cases with similar presentation have been reported [8][9][10].…”

Section: Discussionmentioning

confidence: 84%

Langerhans Cell Histiocytosis of the Temporal Bone in a Child with Central Diabetes Insipidus

LAGRINE¹,

Labani²,

Fakiri³

et al. 2020

J Pediatr Res Rev Rep

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Langerhans cell histiocytosis is a rare clonal disease defined by an accumulation of dendritic cells with Langerhans cell immunological properties within different organs of the body. We intend to describe a new case of Langerhans cell histiocytosis of the temporal bone in a child with central diabetes insipidus. The child presented the polyuria-polydipsia syndrome for 6 months with Chronic bilateral otorrhea. On physical examination,there were bilateral retroauricular redness and induration. The otoscopy visualized inflammatory polyps filling all of the right and left external ear canal. Biological exploration confirmed the central diabetes insipidus. Magnetic resonance imaging of the brain showed the presence of pituitary infiltration. Computed tomography showed osseous lysis of the temporal bone bilaterally. A retroauricular biopsy was performed under general anesthesia. Histological and immunohistochemical evaluation confirmed the diagnosis of Langerhans cell histiocytosis

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Section: Discussionmentioning

confidence: 84%

Langerhans Cell Histiocytosis of the Temporal Bone in a Child with Central Diabetes Insipidus

LAGRINE¹,

Labani²,

Fakiri³

et al. 2020

J Pediatr Res Rev Rep

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“…Of the 394 initial screened literature records, 334 records were excluded after reviewing the abstract, while 60 full articles were assessed for eligibility, 10 of them were excluded (due to no clinical features data), resulting in 43 TCOF1 1,2,8,13,17–55 and 10 POLR1 related studies 1,4,5,7,17,55–58 . Among them, there were three studies including both TCOF1 and POLR1D 1,17,55 .…”

Section: Resultsmentioning

confidence: 99%

A systematic review on Treacher Collins syndrome: Correlation between molecular genetic findings and clinical severity

et al. 2022

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Treacher Collins syndrome (TCS, OMIM: 154500) is a rare congenital craniofacial disorder that is caused by variants in the genes TCOF1, POLR1D, POLR1C, and POLR1B. Studies on the association between phenotypic variability and their relative variants are very limited. This systematic review summarized the 53 literatures from PubMed and Scopus to explore the potential TCS genotype-phenotype correlations with statistical analysis. Studies reporting both complete molecular genetics and clinical data were included. We identified that the molecular anomaly within TCOF1 (88.71%) accounted for most TCS cases. The only true hot spot for TCOF1 was detected in exon 24, with recurrent c.4369_4373delAAGAA variant is identified.While the hot spot for POLR1D, POLR1C, and POLR1B were identified in exons 3, 8, and 15, respectively. Our result suggested that the higher severity level was likely to be observed in Asian patients harboring TCOF1 variants rather than POLR1. Moreover, common 5-bp deletions tended to have a higher severity degree in comparison to any variants within exon 24 of TCOF1. In summary, this report suggested the relationship between genetic and clinical data in TCS. Our findings could be used as a reference for clinical diagnosis and further biological studies.

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“…Temporal bone LCH is considered at risk of central nervous system involvement and systemic therapy is therefore considered as the standard of care. 2 …”

Section: Discussionmentioning

confidence: 99%

Cholesteatoma Masquerading as Recurrent Langerhans Cell Histiocytosis

Gendre¹,

Dréno²,

Boyer³

et al. 2023

Int Adv Otol

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Langerhans cell histiocytosis is a rare condition affecting the temporal bone in up to 60% of cases. Symptoms are non-specific and the differential diagnosis includes infection, benign lesions such as cholesteatoma, and malignant lesions of the skull base. Here, we report the case of a 14-year-old child referred with chronic ear discharge, and background of multifocal Langerhans cell histiocytosis 9 years prior. Recurrence of Langerhans cell histiocytosis was initially suspected and systemic treatment was considered. Further imaging workup and surgical exploration of the mastoid showed a secondary acquired cholesteatoma arising from a dehiscent posterior ear canal wall. Surgical removal of the cholesteatoma was performed with a canal wall down procedure. We review the presentation and management of temporal bone Langerhans cell histiocytosis. We recommend that cholesteatoma should be considered in case of recurrence of otological symptoms in patients with a background of Langerhans cell histiocytosis.

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Retrospective study of Langerhans cell histiocytosis in ear, nose and neck

Cited by 10 publications

References 17 publications

Langerhans Cell Histiocytosis of the Temporal Bone in a Child with Central Diabetes Insipidus

Langerhans Cell Histiocytosis of the Temporal Bone in a Child with Central Diabetes Insipidus

A systematic review on Treacher Collins syndrome: Correlation between molecular genetic findings and clinical severity

Cholesteatoma Masquerading as Recurrent Langerhans Cell Histiocytosis

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