Akademik Veri Yönetim Sistemi
9th International Dermatology and Cosmetology Congress (INDERCOS), İstanbul, Türkiye, 29 Nisan - 01 Mayıs 2024, cilt.1, ss.107-109, (Tam Metin Bildiri)
INTRODUCTION: Amyloidosis is caused by extracellular deposition of pathological insoluble fibrillary protein in organs and tissues and may cause severe organ dysfunction and death. The most common type of amyloidosis is immunoglobulin light chain (AL) amyloidosis which involves kidney, heart, liver, peripheral nerves, autonomic nervous system and skin. Skin involvement may be presented with periorbital purpura and macroglossia. Here, we present a 57 years old female patient with periorbital purpuric plaques who was diagnosed with systemic AL amyloidosis. Case Report: A 57 years old female with hypertension presented with generalized weakness, weight loss and skin lesions in periorbital areas. Dermatological examination revealed infiltrated waxy purpuric plaques in periorbital areas and jaw, purpuric plaque on the left lateral side of the tongue, purpuric papules and plaques in the presternal area, abdomen, and inguinal areas. She had macroglossia. The biopsy, which was perform on the purpuric papules in presternal area, showed epidermal atrophy, dermal eosinophilic material accumulation. Congo red staining revealed green birefringence under polarized light, consistent with amyloid. She was evaluated for possible organ involvement. Echocardiography showed left ventricular diastolic dysfunction. The excretion of urinary protein was high, 525 mg/24 h. Kappa free light-chains (FLCs) were 1,23 mg/L (normal range: 3.3–19.4 mg/L), lambda FLCs were 160 mg/L (normal range: 5.7-26.3 mg/L) kappa/ lambda FLC ratio was 0.007 (normal range: 0.26–1.75). No lytic lesion was observed on PET. Bone marrow biopsy showed 2% plasma cells. Immunohistochemical Skin Appendage Disorders International Dermatology and Cosmetology Congress 9th INDERCOS 29 April-01 May 2024 | İstanbul, Türkiye 108 staining was positive for lambda. Given these findings, a diagnosis of systemic AL amyloidosis was made. The patient was started on Daratumumab BortezomibCyclophosphamide-Dexametzone chemotherapy. She developed acute kidney injury and died after cardiac arrest. Discussion: AL amyloidosis is a systemic disease characterized by an amyloid deposition process affecting many organs. Cutaneous findings in AL amyloidosis depends upon the site of amyloid deposition. Superficial dermal deposition of amyloid causes shiny waxy translucent papules. Flexural areas are sites of predilection, including periorbital areas, inframammary area, umbilicus, inguinal regions. Lesions can also be found on the central face, tongue and buccal mucosa. Macroglossia, a pathognomonic sign of this disorder. Biyopsy is essential for diagnosis. Congo red staining for amyloid should be used. It must be shown presence of an amyloid related systemic syndrome, evidence that amyloid is light-chain-related, evidence of a monoclonal plasma cell proliferative disorder. A high level of clinical suspicion is essential to avoid delayed diagnosis. Therefore, clinicians should be aware of cutaneous lesions in AL amyloidosis, as in this case.