Nodular amyloidosis of all four eyelids: first presenting symptom of Waldenström macroglobulinaemia
2013; Wiley; Volume: 92; Issue: 4 Linguagem: Inglês
10.1111/aos.12152
ISSN1755-3768
AutoresStine Jacoby, Peter Bjerre Toft, Jan Ulrik Prause, Preben Philip, Steffen Heegaard,
Tópico(s)Autoimmune Bullous Skin Diseases
ResumoActa OphthalmologicaVolume 92, Issue 4 p. 392-393 Diagnosis and Therapy in OphthalmologyFree Access Nodular amyloidosis of all four eyelids: first presenting symptom of Waldenström macroglobulinaemia Stine Jacoby, Stine Jacoby Department of Ophthalmology, Næstved Sygehus, Næstved, Denmark Department of Ophthalmology, Glostrup Hospital, University of Copenhagen, Copenhagen, DenmarkSearch for more papers by this authorPeter B. Toft, Peter B. Toft Department of Ophthalmology, Glostrup Hospital, University of Copenhagen, Copenhagen, DenmarkSearch for more papers by this authorJan U. Prause, Jan U. Prause Department of Neuroscience and Pharmacology, Eye Pathology Institute, University of Copenhagen, Copenhagen, DenmarkSearch for more papers by this authorPreben Philip, Preben Philip Department of Oncology and Haematology, Næstved Sygehus, Næstved, DenmarkSearch for more papers by this authorSteffen Heegaard, Steffen Heegaard Department of Ophthalmology, Glostrup Hospital, University of Copenhagen, Copenhagen, Denmark Department of Neuroscience and Pharmacology, Eye Pathology Institute, University of Copenhagen, Copenhagen, DenmarkSearch for more papers by this author Stine Jacoby, Stine Jacoby Department of Ophthalmology, Næstved Sygehus, Næstved, Denmark Department of Ophthalmology, Glostrup Hospital, University of Copenhagen, Copenhagen, DenmarkSearch for more papers by this authorPeter B. Toft, Peter B. Toft Department of Ophthalmology, Glostrup Hospital, University of Copenhagen, Copenhagen, DenmarkSearch for more papers by this authorJan U. Prause, Jan U. Prause Department of Neuroscience and Pharmacology, Eye Pathology Institute, University of Copenhagen, Copenhagen, DenmarkSearch for more papers by this authorPreben Philip, Preben Philip Department of Oncology and Haematology, Næstved Sygehus, Næstved, DenmarkSearch for more papers by this authorSteffen Heegaard, Steffen Heegaard Department of Ophthalmology, Glostrup Hospital, University of Copenhagen, Copenhagen, Denmark Department of Neuroscience and Pharmacology, Eye Pathology Institute, University of Copenhagen, Copenhagen, DenmarkSearch for more papers by this author First published: 22 April 2013 https://doi.org/10.1111/aos.12152Citations: 3 Steffen Heegaard Eye Pathology Institute University of Copenhagen Frederik V′s vej 11 DK-2100 Copenhagen Denmark Tel: + 45 35326070 Fax: + 45 35326080. Email: sthe@sund.ku.dk AboutSectionsPDF ToolsRequest permissionExport citationAdd to favoritesTrack citation ShareShare Give accessShare full text accessShare full-text accessPlease review our Terms and Conditions of Use and check box below to share full-text version of article.I have read and accept the Wiley Online Library Terms and Conditions of UseShareable LinkUse the link below to share a full-text version of this article with your friends and colleagues. Learn more.Copy URL Share a linkShare onFacebookTwitterLinked InRedditWechat A 69-year-old man was admitted for firm, painless, nodular, slowly growing bilateral lesions of both medial upper and lower eyelids (Fig. 1A). The lesions had been observed for more than 10 years. The history included a well-treated arterial hypertension and a radical prostatectomy for a localized T1c (6th TNM edition) prostate cancer 2 years prior. Figure 1Open in figure viewerPowerPoint (A) 69-year-old man with elevated, skin-coloured elements (arrows) medially of all four eyelids and oedema of the lower eyelids. (B) A CT scan revealed bilateral infiltrative masses (arrows) between the orbital wall and the medial rectus in both orbits. (C) Microscopy of the eyelid biopsy showing subepithelial, eosinophilic, amorphous deposits (arrow; haematoxylin–eosin staining). (D) Staining with Congo red stains the deposits red and demonstrates a green birefringence (dichroism) in polarized light consistent with amyloid (arrow). (E) The amyloid deposits strongly bind anti-λ light chain antibodies. (F) Clinical appearance after 6 months of treatment. The lesions are much smaller and the periorbital oedema has decreased. Computed tomography (CT) scans demonstrated bilateral non-infiltrative masses between the orbital walls and the medial rectus muscle (Fig. 1B). The patient underwent partial excision of the tumour-like lesions. Evaluation by light microscopy revealed subepithelial amorphous eosinophilic deposits (Fig. 1C), and amyloidosis was confirmed by a positive Congo red staining revealing a positive green dichroism using polarized light (Fig. 1D). The amyloid deposits were strongly positive for anti-λ light chain immunoglobulins (Fig. 1E). A work-up for systemic amyloidosis showed normocytic anaemia without abnormality in platelets, red or white blood cell lines. β2-Microglobulin was increased. Liver and kidney assessments were normal. Serum immuno-electrophoresis showed a highly increased IgM-λ light chain level and very low IgA and IgG levels. No skin lesions on other parts of the body were identified. Microscopy, immunohistochemical and flow cytometric analysis of an axillary lymph node showed destruction of septae and almost 70% B-cells with monoclonal λ light chain. Computed tomography scans showed multiple enlarged lymph nodes on both sides of the neck, in both axillae, retroperitoneally, and the groins, as well as splenomegaly and moderately enlarged heart and liver. The right lung exhibited a 4.5-cm infiltrate. A bone marrow biopsy from the iliac crest demonstrated moderate hypercellularity, intertrabecular lymphocytic infiltrates of B-cells with IgM λ monoclonality, lymphoplasmocytoid differentiation and no cytogenetic abnormalities. A diagnosis of Waldenström macroglobulinaemia (WM) with secondary systemic amyloidosis of the eyelids and orbit was made. The patient got 4 monthly courses of chemotherapy consisting of cladribin combined with rituximab. Computed tomography follow-up 2 months later showed regression of both the lymphadenopathy and the lung infiltrate. Blood tests revealed increasing haemoglobin and decreasing β2-microglobulin and IgM indicating a reduction in the total tumour mass. The patient is well 6 months after treatment and has noted a decrease of the periorbital lesions (Fig. 1F). Waldenström macroglobulinaemia is a B-cell neoplasm characterized by a lymphoplasmacytic infiltrate in the bone marrow associated with a serum IgM monoclonal gammopathy (Vijay & Gertz 2007). The symptoms of WM are divided into those related to the clonal proliferation/tumour infiltration of the bone marrow and other lymphoid organs, and those secondary to the rheological effects of the elevated IgM level (Pepys 2006). The most common symptom is fatigue attributable to the anaemia (Vijay & Gertz 2007). The occurrence of amyloidosis in patients with WM is rare. In a large study of patients with gammopathy, amyloidosis developed in 2.2% of patients with monoclonal IgM (Gertz et al. 1993). Cutaneous amyloidosis of the eyelids secondary to WM has never been described before. Chee et al. (2013) has recently described an interesting patient with chronic eyelid swelling as the only presenting sign of multiple myeloma. A biopsy of the affected eyelid tissue and a bone marrow biopsy made the final diagnosis. Amyloidosis is a rare disorder caused by extracellular deposition of insoluble abnormal fibrils derived from aggregation of misfolded protein. In local amyloidosis, the amyloid is restricted to a particular organ or tissue (Pepys 2006). Nodular amyloidosis is different from papular and macular amyloidosis because the amyloid deposits are of the AL type (monoclonal immunoglobulin light chains). Therefore, it is suggestive of plasma cell dyscrasia-related amyloidosis (Steciuk et al. 2002). The fact that AL amyloidosis can be observed in association with WM suggests that AL amyloidosis can be a complication of any monoclonal protein-producing neoplasm. The present case demonstrates that WM may present as a local nodular amyloidosis in the eyelid/orbital region. Localized cutaneous amyloidosis as a primary disease is extremely rare, and amyloid of the eyelid skin is a hallmark of systemic disease. Therefore, a work-up for systemic amyloidosis including plasma cell disorders must always be performed on eyelid/orbital amyloidosis patients. References CheeE , KimY-D , LeeJH & WooKI ( 2013 ): Chronic eyelid swelling as an initial manisfestation of myeloma-associated amyloidosis . Ophthal Plast Reconstr Surg 29 : e12 – e14 . CrossrefPubMedWeb of Science®Google Scholar GertzMA , KyleRA & NoelP ( 1993 ): Primary systemic amyloidosis: a rare complication of immunoglobulin M monoclonal gammopathies and Waldenström′s macroglobulinemia . J Clin Oncol 11 : 914 – 920 . CrossrefPubMedWeb of Science®Google Scholar PepysMB ( 2006 ): Amyloidosis . Annu Rev Med 57 : 223 – 241 . CrossrefCASPubMedWeb of Science®Google Scholar SteciukA , DompmartinA , TroussardX , VerneuilL , MacroM , ComozF & LeroyD ( 2002 ): Cutaneous amyloidosis and possible association with systemic amyloidosis . Int J Dermatol 41 : 127 – 132 . Wiley Online LibraryCASPubMedWeb of Science®Google Scholar VijayA & GertzMA ( 2007 ): Waldenström macroglobulinemia . Blood 109 : 5096 – 5103 . CrossrefCASPubMedWeb of Science®Google Scholar Citing Literature Volume92, Issue4June 2014Pages 392-393 FiguresReferencesRelatedInformation
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