A 74-year-old otherwise healthy woman presented with diffuse alopecia of the scalp. Two biopsies were taken for investigation of suspected telogen effluvium or diffuse alopecia areata. No clinical features of amyloidosis, such as macroglossia, purpura, infiltrative skin lesions or nail changes, were observed.\nThe skin biopsies showed no inflammation or evidence of a scarring alopecia. A large proportion of follicles were shifted into catagen and telogen phase in both biopsies. The residual fibrous stelae within the deep dermis and subcutis showed a remarkable appearance, with an empty center and a peripheral zone containing eosinophilic periodic acid Schiff (PAS)-positive and diastase-resistant ( and ), Congo-red-positive (), apple-green-birefringent material characteristic of amyloid. Similar amyloid deposits were also evident to a lesser extent surrounding follicular epithelium within the mid-dermis. There was no discernible amyloid deposition within dermal blood vessels, surrounding sweat apparati or adipocytes, or within the dermal interstitium.\nFurther special staining was carried out on one of the biopsies, with PAS with diastase (PASD) staining showing no fungal organisms or dermoepidermal basement-membrane-zone thickening. Alcian blue staining showed no dermal mucin accumulation and was negative within the amyloid deposits. Verhoeff staining showed no scarring that might suggest a scarring alopecia.\nWithin one biopsy, 14 of 37 (38%) hairs were vellus or vellus-like. Of the non-miniaturized hairs, 16 of 23 (70%) were in catagen or telogen phase. The other biopsy was more irregularly shaped and subsequently obliquely sectioned, allowing visualization of only 14 hairs, 5 of which (36%) were vellus or vellus-like; of the 9 remaining hairs, 2 were in catagen or telogen phase (22%).\nAs such, the biopsies were assessed to show a shift toward catagen and telogen hair follicles, consistent with the early phase of telogen effluvium. There was also moderate hair miniaturization consistent with pre-existing senile alopecia or androgenetic hair loss.\nPerifollicular deposition of amyloid prompted further workup of the patient for systemic forms of amyloidosis. Plasma protein electrophoresis and immunofixation showed a 1.4 g/L monoclonal band in the mid-to-late gamma region. Additional minor bands were noted in the beta-gamma region of both the alpha heavy chain and lambda light-chain classes and migrated with slightly different mobility, suggesting that they were not the same paraprotein. Urine protein electrophoresis showed moderate proteinuria in a glomerular pattern, without excretion of the monoclonal protein in the urine.\nBased on these findings, the patient was diagnosed with lambda AL amyloidosis. A bone-marrow biopsy performed 6 months after presentation showed a plasma-cell dyscrasia with lambda light-chain restriction and 8% plasma cells in the bone marrow. She subsequently received treatment with melphalan, and her disease is stable. At time of publication, she has no known involvement of the lymph nodes, oropharynx, liver, spleen, and cardiovascular system, and only mild renal impairment and proteinuria.
We present a case of a 68-year-old white female who presented with the complaint of fatigue and hair loss for several months. She had a past medical history of benign essential hypertension, bradycardia s/p (status post) cardiac pacemaker secondary to Mobitz type 2 atrioventricular block, hyperlipidemia, essential tremor, eczema, and osteopenia. An evaluation by dermatology had confirmed a diagnosis of alopecia totalis. This progressed to complete hair loss over the next few months. She was referred to nephrology for worsening creatinine (0.9-1.9 mg/dL over the course of 1 year) and proteinuria. On physical examination, she exhibited normal vital signs. Skin examination revealed complete hair loss of the body including the scalp (), eyebrows, eyelashes, and axillary () and pubic hair. Cardiac and lung examinations were unremarkable although she was noted to have trace of lower extremity edema.\nUrinalysis disclosed significant albuminuria, albumin/creatinine ratio of 8 g/g of creatinine, and urine protein/creatinine ratio of 9.8. Serum albumin was low at 3 g/dL. Urine microscopic examination was bland. Serological workup including anti-Ro, anti-La, anti-RNP, anti-Sm, anti Scl-70, anti Jo-1, ANA, anti–double stranded DNA, ANCA screen, C3, C4, hepatitis profile, HIV screen, cryoglobulins, and rheumatoid factor were all negative. Serum and urine protein electrophoresis revealed no paraproteins. She was noted to be anemic with hemoglobin of 12 g/dL. Given declining renal function, significant proteinuria, and a negative workup, renal biopsy was pursued. This revealed eosinophilic material in the mesangium with apple-green birefringence on Congo-red stain. Deposition of fibrillary material was seen in electron microscopy (). Immunohistochemistry of the biopsy specimen confirmed the presence of amyloid, AL type (kappa). Serum-free light chain analysis demonstrated an elevated kappa/lambda ratio of 79.8; kappa concentration was 1014 mg/dL, while free lambda was 12.7 mg/dL. Bone marrow examination showed 28% plasma cells with atypia 46, XX; fluorescence in situ hybridization demonstrated monosomy-13 with gains in chromosomes 9 and 11.\nThe patient was initiated on bortezomib and dexamethasone treatment for amyloidosis associated with MM. She was hospitalized 1 month later for symptoms of heart failure and was found to have a reduced left ventricular ejection fraction of 25%. Cardiac dysfunction was presumed to be secondary to amyloidosis. Her renal failure continued to progress and required initiation of hemodialysis. She was switched to ixazomib because of severe adverse effects to bortezomib after 3 cycles. She had a very good partial response to chemotherapy with serum kappa light chain level decreasing from 1854 mg/dL to 165 mg/dL. Renal function failed to recover and she remained dialysis dependent. She experienced an improvement in alopecia with new hair growth following the initiation of chemotherapy coincident with a significant reduction in the kappa light chain levels. The favorable response to chemotherapy may be predictive of an improved overall prognosis in our patient.