BACKGROUND: Amyloidosis is characterized by extracellular amyloid protein deposition. When amyloidosis intersects with basal cell carcinoma (BCC), it introduces complex diagnostic challenges. This study explored the overlap between primary localized cutaneous amyloidosis (PLCA) and BCC, examining amyloid deposits in BCC, systemic amyloidosis risk in PLCA, and various treatment methods.
METHODS: Two case studies were discussed, followed by a literature review, in which PubMed, Web of Science, EMBASE, and the Cochrane Library databases were utilized. The search, covering studies from infinity up to January 2024, focused on \"cutaneous amyloidosis,\" \"basal cell carcinoma,\" and related terms. Articles in English detailing the clinical presentation, diagnostic methods, treatment, and outcomes of cutaneous amyloidosis mimicking BCC were included. Data extraction and synthesis were performed by two independent reviewers.
METHODS: This study highlighted two cases exemplifying the complexity of diagnosing BCC and PLCA. The first case (a 64-year-old with a nodule on the cheek) and the second (a 67-year-old with a nodular lesion on the upper lip cheek) were initially suspected as BCC and were later identified as PLCA upon histopathological examination.
CONCLUSIONS: The diagnosis of amyloidosis within BCC nodules remains a diagnostic challenge. Although their coexistence is relatively prevalent, their local recurrence rates remain debatable. Various diagnostic and therapeutic approaches have been suggested, such as topical creams and phototherapy. However, none have garnered conclusive and consistent evidence to establish reliable clinical application.
CONCLUSIONS: The findings emphasized the importance of considering alternative pathologies in differential diagnoses. Future research should focus on understanding systemic amyloidosis risks and optimizing care for both conditions.

暂无摘要。

Primary cutaneous amyloidosis (PCA) is characterized by the extracellular deposition of amyloid in the skin without systemic involvement. It comprises several clinical variants, the most common of which are macular amyloidosis (MA) and lichen amyloidosis (LA). PCA is frequently observed in Asians, while it is considered to be very rare in Caucasians. In the latter population, the condition often poses a diagnostic challenge. Dermoscopy has already been proved to be a useful, non-invasive diagnostic tool in various non-neoplastic skin diseases. In the paper, we present three Caucasian patients (skin phototypes I-II) with histologically confirmed LA. Under dermoscopy, central white hubs with grayish-brown dots and globules were observed in all three cases. Vascular structures were present in two cases and had the morphology of red globules and thick, unfocused branching lines intersecting the white hubs. A comprehensive review of the literature retrieved twelve papers presenting the dermoscopic features of PCA, including five articles on the dermoscopy of LA. The vast majority of these studies have been conducted on the Asian population, and there is a lack of data on the dermoscopic findings for patients with skin type I or II. The literature review revealed that MA and LA share several dermoscopic similarities (the presence of a white central hub and grayish dots), but also display distinct features. Compared to the dermoscopic features of LA in darker skin phototypes, our patients presented less pronounced pigmentation and more evident vascular structures. Nevertheless, further studies are needed in order to reliably evaluate the dermoscopic features of PCA in various ethnicities.

With the investigation of the efficacy of laser therapy in primary localized amyloidosis(PLCA) only recently starting to materialize, we aimed to review the currently available studies of laser therapy in the management of the disease. We searched PubMed, Scopus, Embase, Web of Science, Cochrane, and ProQuest online databases with a specified search strategy, assessed the quality of each study, and then extracted the eligible data. Five RCTs(randomized controlled trials), one non-randomized controlled trial, three case series, and nine case reports(18 in total) were included. Overall, carbon dioxide (CO2), neodymium-doped:yttrium aluminum garnet (Nd:YAG), pulsed dye (PDL), Er (Erbium):YAG, and yttrium/erbium fiber were the studied lasers. One hundred fifty-five cases in total underwent laser therapy, with CO2 being the most frequent laser. Almost all studies demonstrated significantly desirable outcomes, while only mild and transient side effects were noted. Even though the studies\' results were significant, we noticed that implementing a consistent methodology and a standardized objective assessment method was missing. Therefore, we recommend that future studies be conducted with less heterogeneous data for a more definite conclusion.

暂无摘要。

Lysozyme amyloidosis is a rare hereditary systemic amyloidosis with amyloid deposits in various tissues leading to progressive organ failure. It has been mainly reported in developed countries since 1993. Here we report a lysozyme amyloidosis family with variant lysozyme p.Trp82Arg in a Chinese family.
The main clinical manifestation of this case was dominant kidney involvement presenting with proteinuria and decreased renal function. Biopsy of the kidney showed massive amyloid deposits in the glomerular mesangium and subendothelium. Immunohistochemistry and mass spectrometry of renal tissue confirmed the lysozyme nature of the amyloid. DNA sequencing of the peripheral blood leukocytes revealed a single base-pair transition from T to C (TGG/ CGG) of codon 82, leading to the replacement of tryptophan by arginine in the mature protein (p.Trp82Arg). The affected patients in this family also presented with dominant kidney involvement, one of them has been confirmed by IHC and mass spectrometry on his renal biopsy and gene testing as well. As there is no radical therapy for lysozyme amyloidosis, patients were given symptomatic treatment such as antihypertensive drugs and antibiotics. To our knowledge, this is the first report of lysozyme amyloidosis in a Chinese family.
Hereditary amyloidosis with a variant lysozyme of p.Trp82Arg presented with dominant kidney involvement was firstly reported in a Chinese family.

Lysozyme amyloidosis (ALys) is a rare autosomal dominant hereditary systemic amyloidosis associated with a large spectrum of clinical manifestations. ALys phenotype mainly involves the digestive tract, liver and spleen, kidneys, lymph nodes, skin, and lachrymal and salivary glands. Very recently, cardiac involvement and peripheral neuropathy associated with a new p.Leu102Ser variant of lysozyme have been documented. In the present observation, we extend the phenotypic heterogeneity of ALys to the tracheobronchial tree with histologically proven bronchial ALys-amyloid deposits. We report the case of a 62-year-old man of Italian origin (Piedmont) diagnosed with ALys associated with the p.Trp82Arg variant. The patient complained of upper digestive symptoms, sicca syndrome, and lately recurrent pulmonary infections. Thoracic endoscopy revealed a fragile, inflammatory, and granulomatous aspect of the bronchi. Amyloid deposits were observed in the upper digestive tract, salivary glands, temporal artery, and tracheobronchial tree. Symptomatic treatment was offered. Recurrent pulmonary infections occurred during the follow-up. Lung involvement in hereditary ALys has only been exceptionally described. Although vascular involvement has already been reported in ALys in many organs, it never concerned cranial arteries. This case highlights the systemic nature of the amyloid protein variant deposits and expands the spectrum of clinical manifestations to chest involvement. The literature review highlights that hereditary ALys with the p.Trp82Arg variant is frequent in patients coming from Piedmont (Italy). Due to diffuse organs involvement related to ALys, it is important not to misdiagnose ALys for AL amyloidosis, the most frequent form of amyloidosis.

BACKGROUND: Apolipoprotein A-1 (ApoA-1)-related amyloidosis is characterized by the deposition of ApoA-1 in various organs and can be either hereditary or nonhereditary. It is rare and easily misdiagnosed. Renal involvement is common in hereditary ApoA-1 amyloidosis, but rare in the nonhereditary form.
UNASSIGNED: We reported two cases with ApoA-1 amyloidosis, a 64-year-old man suffering from nephrotic syndrome and a 40-year-old man with nephrotic syndrome and splenomegaly. Renal biopsies revealed glomerular, interstitial and vascular amyloid deposits and positive phospholipase A2 receptor staining in the glomerular capillary loop in case 1, and mesangial amyloid deposits in case 2.
UNASSIGNED: After immunostaining failed to determine the specific amyloid protein, proteomic analysis of amyloid deposits by mass spectrometry was performed and demonstrated the ApoA-1 origin of the amyloid. Genetic testing revealed no mutation of the APOA1 gene in case 1 but a heterozygous mutation, Trp74Arg, in case 2. Case 1 was thus diagnosed as nonhereditary ApoA-1 associated renal amyloidosis with membranous nephropathy, and case 2 as hereditary ApoA-1 amyloidosis with multiorgan injuries (kidney and spleen) and a positive family history.
METHODS: Case 1 was treated with glucocorticoid combined with cyclosporine. Case 2 was treated with calcitriol and angiotensin converting enzyme inhibitors.
RESULTS: Two cases were followed up for 5 months and 2 years, respectively; and case 1 was found to have attenuated proteinuria while case 2 had an elevation of cholestasis indices along with renal insufficiency.
CONCLUSIONS: Proteomic analysis by mass spectrometry of the amyloid deposits combined with genetic analysis can provide accurate diagnosis of ApoA-1 amyloidosis. Besides, these 2 cases expand our knowledge of ApoA-1-related renal amyloidosis.

Amyloidosis cutis dyschromica is a rare form of primary cutaneous amyloidosis without systemic involvement and characterized by asymptomatic, progressive hyper- and hypopigmentation. We present the first case of a patient with amyloidosis cutis dyschromica diagnosed previously elsewhere as having Addison disease with generalized hyperpigmentation of the skin. This case suggests that in patients presenting with asymptomatic cutaneous dyschromia a skin biopsy for histopathological examination should be considered.

BACKGROUND: Primary localized cutaneous amyloidosis (PLCA) is characterized by extracellular deposition of heterogenic amyloid proteins in the skin without systemic involvement. Lichen amyloidosis, macular amyloidosis, and (primary localized cutaneous) nodular amyloidosis are different subtypes of PLCA.
OBJECTIVE: The aim of this study was to review the current reported treatment options for PLCA.
METHODS: This systematic review was based on a search in the PubMed database for English and German articles from 1985 to 2016.
RESULTS: Reports on the treatment of PLCA were limited predominantly to case reports or small case series. There were a few clinical trials but these lacked control groups. A variety of treatment options for PLCA were reported including retinoids, corticosteroids, cyclophosphamide, cyclosporine, amitriptyline, colchicine, cepharanthin, tacrolimus, dimethyl sulfoxide, vitamin D3 analogs, capsaicin, menthol, hydrocolloid dressings, surgical modalities, laser treatment, and phototherapy.
CONCLUSIONS: No definitive recommendation of preferable treatment procedures can be made based on the analyzed literature. Randomized controlled trials are needed to offer patients an evidence-based therapy with high-quality standardized treatment regimens for PLCA.