Rare presentations of primary amyloidosis as ptosis: a case report
Abstract Background Amyloidosis is a rare, progressive and variable group of diseases characterized by extracellular deposits of amyloid protein in different tissues and organs. It is a protein-misfolding disease in which small proteins of about 10 to 15 kDa acquire an alternative and relatively mis...
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| Format: | Article |
| Language: | English |
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BMC
2022-01-01
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| Series: | BMC Ophthalmology |
| Online Access: | https://doi.org/10.1186/s12886-022-02267-4 |
| _version_ | 1819364635302690816 |
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| author | Peng-Hsuan Lee I-Chuang Liao Wan-Ju Annabelle Lee |
| author_facet | Peng-Hsuan Lee I-Chuang Liao Wan-Ju Annabelle Lee |
| author_sort | Peng-Hsuan Lee |
| collection | DOAJ |
| description | Abstract Background Amyloidosis is a rare, progressive and variable group of diseases characterized by extracellular deposits of amyloid protein in different tissues and organs. It is a protein-misfolding disease in which small proteins of about 10 to 15 kDa acquire an alternative and relatively misfolded state at minimum energy and subsequently aggregate into oligomers and polymers. It mimics other eyelid diseases, such as involutional ptosis, eyelid granulomatous or cancerous lesions. Misdiagnosis of eyelid amyloidosis is usual when the lesion grows slowly and insidiously. Definite diagnosis depends on clinical suspicion and tissue-proven biopsy. Case presentation A 50-year-old female had painless progressive ptosis in both eyes for 6 months. She presented with limited upward gaze due to swelling of the upper eyelids OU. She complained of mild foreign body sensation. Upon examination, we observed an infiltrated irregular yellowish mass on the surface of her upper palpebral conjunctiva in both eyes. The mass was non-movable without tenderness. We performed excisional biopsy for the masses and subsequent histopathology of the biopsy specimens revealed amyloidosis. Systemic workup showed no other lesions. Unfortunately, her ptosis and upward gaze restriction was not improved after the operation. However, the masses did not enlarge in the following 3 months. Conclusions The varied presentations of ocular adnexal and orbital amyloidosis often lead to a significant delay between first symptoms and diagnosis. Immediate confirmatory biopsy and subsequent systemic workup should be performed whenever amyloidosis is highly suspected. Keywords Amyloidosis Conjunctival mass Ptosis |
| first_indexed | 2024-12-24T23:02:04Z |
| format | Article |
| id | doaj.art-e098c6c4048c49798d1b30f2c96e3e47 |
| institution | Directory Open Access Journal |
| issn | 1471-2415 |
| language | English |
| last_indexed | 2024-12-24T23:02:04Z |
| publishDate | 2022-01-01 |
| publisher | BMC |
| record_format | Article |
| series | BMC Ophthalmology |
| spelling | doaj.art-e098c6c4048c49798d1b30f2c96e3e472022-12-21T16:35:06ZengBMCBMC Ophthalmology1471-24152022-01-012211410.1186/s12886-022-02267-4Rare presentations of primary amyloidosis as ptosis: a case reportPeng-Hsuan Lee0I-Chuang Liao1Wan-Ju Annabelle Lee2Department of Ophthalmology, National Cheng Kung University Hospital, College of Medicine, National Cheng Kung UniversityDepartment of Pathology, Chi Mei Medical CenterDepartment of Ophthalmology, Chi Mei Medical CenterAbstract Background Amyloidosis is a rare, progressive and variable group of diseases characterized by extracellular deposits of amyloid protein in different tissues and organs. It is a protein-misfolding disease in which small proteins of about 10 to 15 kDa acquire an alternative and relatively misfolded state at minimum energy and subsequently aggregate into oligomers and polymers. It mimics other eyelid diseases, such as involutional ptosis, eyelid granulomatous or cancerous lesions. Misdiagnosis of eyelid amyloidosis is usual when the lesion grows slowly and insidiously. Definite diagnosis depends on clinical suspicion and tissue-proven biopsy. Case presentation A 50-year-old female had painless progressive ptosis in both eyes for 6 months. She presented with limited upward gaze due to swelling of the upper eyelids OU. She complained of mild foreign body sensation. Upon examination, we observed an infiltrated irregular yellowish mass on the surface of her upper palpebral conjunctiva in both eyes. The mass was non-movable without tenderness. We performed excisional biopsy for the masses and subsequent histopathology of the biopsy specimens revealed amyloidosis. Systemic workup showed no other lesions. Unfortunately, her ptosis and upward gaze restriction was not improved after the operation. However, the masses did not enlarge in the following 3 months. Conclusions The varied presentations of ocular adnexal and orbital amyloidosis often lead to a significant delay between first symptoms and diagnosis. Immediate confirmatory biopsy and subsequent systemic workup should be performed whenever amyloidosis is highly suspected. Keywords Amyloidosis Conjunctival mass Ptosishttps://doi.org/10.1186/s12886-022-02267-4 |
| spellingShingle | Peng-Hsuan Lee I-Chuang Liao Wan-Ju Annabelle Lee Rare presentations of primary amyloidosis as ptosis: a case report BMC Ophthalmology |
| title | Rare presentations of primary amyloidosis as ptosis: a case report |
| title_full | Rare presentations of primary amyloidosis as ptosis: a case report |
| title_fullStr | Rare presentations of primary amyloidosis as ptosis: a case report |
| title_full_unstemmed | Rare presentations of primary amyloidosis as ptosis: a case report |
| title_short | Rare presentations of primary amyloidosis as ptosis: a case report |
| title_sort | rare presentations of primary amyloidosis as ptosis a case report |
| url | https://doi.org/10.1186/s12886-022-02267-4 |
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