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A rare differential diagnosis of «eyelid swelling» is Langerhans cell histiocytosis (LCH). It should be taken into account especially in cases of anamnesis and atypical clinical presentation. The diagnosis of LCH is confirmed histologically, explains a team of authors led by Christoph A. Reichelen of the Otolaryngology Clinic of the Ludwig Maximilian University of Munich. The occasion is the medical history of a five-year-old child.
The patient and his story
A five-year-old boy presented to the hospital due to a swelling of the eyelid with suspected origin in the sinuses.Anamnestic data included persistent redness and then painful swelling of the right upper eyelid, the authors report. Oral antimicrobial therapy did not improve results; The child was then hospitalized to receive intravenous antimicrobial therapy.
Examination results
- Painful swelling at pressure and redness of the upper right eyelid with minimal mediocaudal bulbar deviation.
- Endonasal conditions: absence of inflammation.
- No trace of visual loss or restriction of bulbar mobility.
- Laboratory diagnostics not relevant.
- Computed tomography of the facial massif: bone defect in the area of the lateral orbital roof; paranasal sinuses partially in shadow on both sides.
In combination with magnetic resonance imaging, an inflammatory process with bone erosion of the frontal bone and infiltration of the dura is suspected, but without certain signs of intradural involvement.The authors report that in the absence of frontal sinusitis and with non-inflammatory endonasal findings they considered it unlikely that the supraorbital process was caused by sinusitis.
Course and further diagnostic tests
With the aim of draining the abscess, the patient underwent surgery; However, no abscesses were found, but inflammatory tissue was removed. Endonasal endoscopy provided no evidence of sinusitis.
Microbiological tests and urine PCR tests were negative for bacteria and fungi.
Histological examination revealed tissue with a focal necrotizing and abscess inflammatory reaction, along with conspicuous histiocytic infiltrates in association with an increase in eosinophilic granulocytes and giant cells.
Immunohistochemistry showed nuclei of histiocytic appearance and a strong expression of CD68, S100 and CD1a. No tumor genetic mutation was found in exon 15 of the BRAF gene.
Diagnosis and discussion
The final diagnosis was Langerhans cell histiocytosis (LCH).LCH is a rare histiocytic disorder characterized by clonal proliferation and defective differentiation of myeloid dendritic cells with Langerhans cell phenotype. At the molecular level, abnormal activation of the MAPK pathway is evident. A mutation in the BRAF gene (V600E) is often detectable.
Whether LCH should be considered an oncological or immunological disease is still controversial. Clinically, LCH may be characterized by pulmonary infiltrates, bone lesions, exanthema, and hepatic, hematopoietic or endocrine dysfunction.
Adverse prognostic factors include: age at diagnosis <2 years and scattered stadium. In addition to frequent indolent swelling, movement limitations, pathological fractures, refractory otitis media and hearing loss in temporal bone lesions are described; jaw pain and loosening of teeth in mandibular lesions. In addition, neurodegenerative symptoms and endocrine disorders may occur.
The disease occurs mainly in early childhood (incidence of about 4.6 million children/year, about 1-2 million adults/year).Acute-disseminated, chronic-multifocal and chronic-localized forms of LCH are distinguished. Skull involvement is the most common bone manifestation of LCH; In these cases, the frontal bone is usually affected.
LCH therapy depends on the pattern of diffusion; In addition to the «waiting strategy» and surgical procedures for local therapy, mainly chemotherapy approaches (combination of vinblastine and corticosteroids) are used. In case of treatment failure, nucleoside analogues (cladribine, cytarabine), among others, are resorted to. In these cases, the 3-year survival rate is more than 70%.
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Source — https://www.univadis.it/viewarticle/caso-clinico-un-bambino-di-cinque-anni-con-gonfiore-delle-2023a10000pp