Primary Localized Amyloidosis Research Articles

A serious warning: A case report on localized amyloidosis of the oral cavity.

Amyloidosis is a relatively rare condition with an array of complex pathophysiology. Localized amyloidosis is a rare and benign condition that practically never results in any clinical repercussions in the head and neck area. Multiple soft nodules of the tongue, lip, and cheek are the most commonly described defining characteristics of localized oral amyloidosis. These nodules originate due to the proliferation of abnormally folded protein aggregates in the body's extracellular tissue compartments, which destroy organ structure and function. Herein, we address the case of a female infant aged one with a smooth nodule in the labial mucosa who was diagnosed with primary localized amyloidosis. When a patient is diagnosed with amyloidosis of the oral mucosa, the possibility of systemic amyloidosis or an underlying plasma cell dyscrasia must be ruled out. Surgical treatment may be beneficial for eliminating any functional impairment if primary localized amyloidosis is established.

Dermatoscopy of primary localised cutaneous amyloidosis - A cross-sectional study in a setting of South Asian public dermatology department.

Amyloidosis, deposition of misfolded protein in body, is a fairly common condition. The deposition of misfolded proteins in skin which occurs in absence of systemic comorbidities, namely Primary Cutaneous Amyloidosis (PCA) is also a well-known entity in skin of colour patients of Asian subcontinent. Primary Cutaneous Amyloidosis is usually diagnosed with good clinical acumen and typical clinical phenotype and involved site. Dermoscope has been used as an adjunct non-invasive tool to confirm cases with diagnostic uncertainty and in those in whom biopsy is deferred. Typical dermoscopic features of PCA helps differentiate it from other pigmentary dermatoses and avoids unwanted invasive biopsies and investigations especially in resource poor settings with financial constraints. This study aims to identify and corroborate clinically, typical dermoscopic features in PCA in 42 patients which includes Macular Amyloidosis (MA) and Papular Amyloidosis (PA) predominantly in skin of colour patients from government based hospital of a south east Asian country. Patients with classic clinical features of PCA were selected. Primary Cutaneous Amyloidosis was subclassified into MA or PA and their corresponding clinically corroborative dermoscopic features were enlisted respectively. All patients (treatment naïve and previously treated), who consented to participate in the study were included. Patients were diagnosed based on the prototypical clinical features. Dermoscopy was done using DermLite III DL3N Polarised and Fluid Dermoscope w/PigmentBoost Brand (3Gen, DermLite LLC, San Juan Capistrano, CA, USA) and images were obtained to create digital dermoscopy system by attaching camera-equipped mobile device via an optional connection kit (Redmi Note 11, MIUI version 13.0.5, CHINA) and the findings were enlisted concurrently. In this study of dermoscopic findings of PCA, 42 patients were evaluated for their clinical lesions along with its corroboration with the dermoscopic features. Macular Amyloidosis was seen in 30 patients and 12 patients had typical cutaneous phenotypic and dermoscopic feature of PA. The most common dermoscopic finding seen in patients with MA was shiny to dull white, circular or oval central hub surrounded with halo of light brown dots. Most common configuration of brownish pigmentation around central hub was fine streak type. Also eccrine clues were seen in some cases of MA, which was a unique finding. Similarly in the PA subtype, the central hub was replaced by scar like structureless translucent white area surrounded by brownish black dot like structures, especially in those with large and thick plaques. Dermoscopic findings of PCA and their clinical corroboration is a much-needed aspect in treating patients with pigmentary disorders and in those with skin of colour, especially in developing countries. Utilization of dermoscope in clinical settings of low income countries and in government based hospitals will decrease the add on economic burden of invasive diagnostic modalities like biopsy and other inadvertent tests done to rule out pigmentary conditions.

Unilateral Eyelid Swelling Secondary to Local Palpebral Conjunctival Amyloidosis in a Young Patient

Purpose: We report a young patient with unilateral eyelid swelling secondary to local, palpebral conjunctival amyloidosis.Case summary: A 31-year-old male was referred with a 6-month history of mild, right upper eyelid swelling but without redness or tenderness. Slit-lamp examination revealed a diffuse hemorrhagic papilliform lesion on the right upper palpebral conjunctiva, this raised a suspicion of giant papillary conjunctivitis. As the lesion was unilateral, there was no history of allergic disease or contact lens use, and the lesion was refractory to topical anti-inflammatory treatment so, excisional biopsy of the right upper palpebral conjunctiva was performed. During the operation, the papilliform lesion was removed, it peeled off on the blade. After surgery, the eyelid swelling improved. Histopathological examination revealed an eosinophilic amorphous deposit consistent with amyloidosis. Further evaluation ruled out systemic amyloidosis; there were no abnormal findings. Thus, we diagnosed primary localized amyloidosis of the palpebral conjunctiva. At the 1-year follow-up, no recurrence was detected.Conclusions: Although primary localized amyloidosis of the palpebral conjunctiva is rare, this should be considered if chronic eyelid swelling accompanied by another conjunctival lesion such as giant papillary conjunctivitis is encountered.

Primary localized ileal amyloidosis with chronic ileitis: a case report with review of literature

Amyloidosis is a rare condition where fibrillar proteins and abnormal, soluble peptides accumulate throughout the body’s organs. Gastrointestinal symptoms secondary to amyloid deposition vary widely and may be confused with other common small intestine diseases, making the diagnosis challenging. Our case is a 63-year-old male with a past medical history of smoking who showed up in the ED with 5 months of diffuse abdominal pain referred to the back. Pelvis-abdominal ultrasound showed bilateral acute pyelonephritis. A colonoscopy revealed large multiple ileal ulcers about 10 cm from the ileocecal valve with a wide base. Pathology biopsies revealed ileal amyloidosis and chronic ileitis with superficial erosions. The patient has been diagnosed with primary localized ileal AL amyloidosis. The patient has finally been referred for surgical resection. We want to raise awareness of ileal amyloidosis and emphasize the importance of considering uncommon etiologies of small intestine pathology in patients presenting with chronic diarrhea, malabsorption, abdominal pain, and weight loss. Finally, patients with small intestine amyloid disease progressing rapidly and failing to respond to non-surgical treatment should be considered for surgical resection.

Unilateral Primary Localised Cutaneous Nodular Amyloidosis of the Nipple

Background: Amyloidosis is characterised by extracellular accumulation of an amorphous fibrillary protein and can affect any organ. It is classified into systemic and localised disease according to its sites of presentation and as primary or secondary according to aetiology. Breast amyloid was first described in 1973 and is extremely rare.Case Presentation: A 61-year-old woman presented in 2020 with a 1-year history of an enlarging tender left nipple with some associated bleeding. Clinical differential diagnoses included a nipple adenoma and an intraductal carcinoma; therefore, a punch biopsy was taken. A full set of screening blood tests were undertaken which were normal, showing no evidence of a plasma cell dyscrasia.The biopsy showed diffuse replacement of the dermis by acellular eosinophilic material showing fracturing. Congo Red stain was positive showing apple-green birefringence under polarised light. A diagnosis of primary localised cutaneous nodular amyloidosis of the nipple was made.Conclusion: We present a rare documented case of isolated primary localised cutaneous nodular amyloidosis of the nipple. This can be considered as a differential diagnosis for patients with a new nipple lesion alongside nipple adenoma and intraductal carcinoma.

The therapeutic role of lasers in primary localized cutaneous amyloidosis: a systematic review.

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.

Primary Localised Amyloidosis of the Urethra: A Case Report

Primary localised amyloidosis of the urethra is a rare entity with only 50 cases reported in the literature. The deposition of fibrillary proteins can lead to a range of symptoms. Importantly, the clinical and cystoscopic features may mimic urethral malignancy (haematuria, voiding difficulties, and a palpable urethral mass), and so thorough investigation is required in order to exclude malignancy, and to identify features of generalised amyloidosis which has a poor prognosis. Once diagnosed the prognosis of localised amyloidosis is excellent, although disease recurrence is possible. We describe a case of primary localised urethral amyloidosis presenting with visible haematuria and a urethral stricture and reviewed the literature regarding management of this rare condition.

Primary Localized Amyloidosis of Larynx: A Case Report.

Primary localized laryngeal amyloidosis is a rare presentation of amyloid deposition. A case of 22years old male presented with progressive hoarseness of voice and supraglottic mass on laryngoscopy reported here. Complete excision of mass was done using Coblator wand. Histopathological examination and Congo red stain demonstrated AL amyloidosis of Larynx.

A clinical study of primary cutaneous localized amyloidosis

<p class="abstract"><strong>Background:</strong> Amyloidosis refers to abnormal extracellular tissue deposition of one of the biochemically unrelated proteins that share certain characteristic staining properties such as apple green birefringence of congo red stained preparations under polarized light. Amyloid deposition may occur in many organs of the body (systemic amyloidosis) or may be restricted to one tissue site (localized amyloidosis).</p><p class="abstract"><strong>Methods:</strong> Observational study was conducted in the Department of Dermatology, Narayana Medical College and Hospital, Nellore. In this study of 70 patients a complete history and clinical data was taken including details of presenting complaints, age, site, duration, course of the disease was recorded. Special importance was given to the friction history using different scrubs, family history and photo exposure.<strong></strong></p><p class="abstract"><strong>Results:</strong> Out of 70 patients of cutaneous amyloidosis 55 patients (78.6%) were of macular amyloidosis. Male:female ratio was 1:2.3. Majority of the patients were housewives (42.8%) and 28.5% of agriculturists. Majority of the patients (40) with cutaneous amyloidosis had disease duration between 2-5 years. In 70 patients of cutaneous amyloidosis 64.3% were symptomatic. 92% patients give history of using scrub. 50% of patients had history of photo exposure. Positive family history was seen in 7 patients (10%) and most common site involved was extensor aspect of arm.</p><p class="abstract"><strong>Conclusions:</strong> From our study it can be concluded that cutaneous amyloidosis is more common among females, most patients are symptomatic, majority have history of using scrub and photo exposure and most common site involved is extensor aspect of arm.</p><p class="abstract"> </p>

Primary Amyloidosis of the Genitourinary Tract.

Amyloidosis is caused by the deposition of misfolded proteins as insoluble eosinophilic material in the extracellular tissues of the body, leading to impairment of organ function. It can be systemic or localized. Localized genitourinary tract amyloidosis is rare and can be incidentally seen; however, in some cases, it can be the only presenting disease. To review the clinical presentation and pathologic findings related to primary amyloidosis of the urogenital system and highlight some of the associated pathologic findings based on our personal experience. Published peer-reviewed literature and personal experience of the senior author. Primary localized amyloidosis within the urogenital tract can present as a neoplastic process and may be clinically and radiologically considered as a mass. Awareness of primary amyloidosis by pathologists and clinicians is required for accurate diagnosis and proper patient management.

Amyloidosis of submandibular lymph node masquerading as a salivary gland tumor: A rare case report with review of literature

Amyloidosis is a disease characterized by the extracellular deposition of fibrillary proteins causing organ dysfunction. Submandibular lymphadenopathy is a rare clinical presentation of amyloidosis. Majority of the patients progress to develop systemic diseases and usually have AL amyloidosis. Here, we report a case of a 40-year-old male, who presented with a left submandibular swelling for 3 years. The clinical diagnosis was malignant submandibular salivary gland tumor. Systemic examination was unremarkable. Histopathological examination of the excised swelling revealed effacement of lymph node architecture by an eosinophilic Schiff poor material. Positive Congo red stain with apple-green birefringence on polarization confirmed it as amyloidosis. Serum protein electrophoresis was negative for M Band. Immunohistochemistry revealed kappa light-chain restriction in the deposits, characterizing it as localized primary amyloidosis of the submandibular lymph nodes.

Primary localized amyloidosis of the stomach mimicking healing gastric ulcer

Primary localized amyloidosis of the stomach mimicking healing gastric ulcer

Amyloidosis of the bladder and association with urothelial carcinoma: report of 29 cases

The association of amyloidosis with certain neoplastic processes is well known. Amyloid uncommonly occurs in relationship with other epithelial neoplasms including urothelial carcinoma. Herein, we report 29 cases of amyloidosis in the bladder, 14 of which were found in relationship to urothelial carcinoma. With institutional review board approval. We searched pathology archives for cases of amyloidosis in the bladder. Clinical, laboratory, and surgical pathology records were reviewed, and data were recorded for all cases. Diagnosis of amyloid was made by Congo red stain showing apple-green birefringence on polarization microscopy and special studies in some cases. Twenty-nine cases of amyloid were identified in bladder specimens. Presentation as a mass lesion was the most common (n = 18). Immunohistochemical subtyping done in 17 cases showed transthyretin-type (n = 10), AL (n = 3), AA (n = 1), amyloid P (n = 1), and undetermined (n = 2) types of amyloid. Eighteen (62%) cases were classified as localized primary amyloidosis and 11 (38%) as secondary manifestation of systemic amyloidosis. In 14 (48%) cases, there was an associated urothelial carcinoma: 5 urothelial carcinoma in situ, 4 low-grade noninvasive papillary urothelial carcinoma, 2 high-grade noninvasive papillary urothelial carcinoma, and 3 high-grade invasive urothelial carcinoma. Associated urothelial carcinoma was present in 4 of 7 patients with systemic amyloidosis and 10 of 18 patients with localized amyloidosis, with the difference not being statistically significant (P = .45). Amyloidosis of the bladder is rare and presents as a mucosal mass or hematuria that may mimic urothelial carcinoma. In this study, we found urothelial carcinoma occurring in 48% of the cases in association with amyloidosis, a finding not previously reported. The relationship of amyloid in the bladder and urothelial carcinoma, although likely not causal, appears to be a unique finding not frequently seen with other solid tumors.

Primary localized ureteral amyloidosis mimicking urothelial carcinoma

Primary localized ureteral amyloidosis mimicking urothelial carcinoma

Primary Localised Amyloidosis of Urethra Presenting as a Penile Stricture

Amyloidosis is characterized by the deposition of fibrillar proteins by either plasma cells or derived from circulating proteins, the former especially involved in pathogenesis of localised amyloidosis. We describe a case of primary localised amyloidosis involving the urethra, in a 54-year-old diabetic patient, presenting with symptoms of stricture. Though a rare cause, in a patient with clinical diagnosis of urethral stricture, one of the differential diagnosis to be ruled out is primary urethral amyloidosis.

A clinicopathological study of primary localised cutaneous amyloidosis

<p class="abstract"><strong>Background:</strong> Amyloidosis is defined as extracellular deposits of heterogenic, misfolded proteins, amyloid fibrils, in various tissues. The term primary cutaneous amyloidosis (PLCA) usually includes macular amyloidosis (MA), lichen amyloidosis (LA) and nodular amyloidosis. Primary cutaneous amyloidosis is very common in Kerala probably due to socio-cultural practices. There has been no published data on PLCA from Kerala thus we undertook this study. The objectives of the study were to correlate clinical features of primary localized cutaneous amyloidosis with histopathologic findings; to evaluate the sensitivity of Congo red staining with polarized light in histopathologically proven primary localized cutaneous amyloidosis)</p><p class="abstract"><strong>Methods:</strong> We undertook an observational analysis for a period of 2 years from May 2012 to April 2014 in the Department of Dermatology, Amrita Institute, Cochin. All cases clinically diagnosed as cutaneous amylodosis were included in the study. After informed consent, skin biopsy was taken. The histopathologic sections were stained with Congo red and seen under polarized microscopy for apple green birefrengance.<strong></strong></p><p class="abstract"><strong>Results:</strong> A total of 70 patients were included in the study. Of the 70 cases, there were 20 males and 50 females. The most common clinical type was lichen amylodosis observed in 32 patients followed by macular amylodosis (28) and biphasic amyloidosis (10) cases. Histopathological compatibility was seen in 71% of MA and 89% cases of LA. Congored positivity was seen in 53.8%. Congored stain under immunofluorescence microscopy was done for 30 patients which gave a positivity of 85% which indicates that it is more sensitive that polarizing microscopy.</p><p><strong>Conclusions:</strong> Our study showed that the most common type is lichen amylodosis. Histopathology and congo red staining with polarized light is a valuable aid in diagnosis. Congo red stain under immunofluorescence microscopy has greater sensitivity and improves the diagnostic yield. </p>

An unusual case of primary localized renal amyloidosis

An unusual case of primary localized renal amyloidosis

Ectropion and Conjunctival Mass in a Patient with Primary Bilateral Conjunctival Amyloidosis.

Background. Amyloidosis is a group of disorders characterized by deposition of an extracellular protein, known as amyloid, in an abnormal fibrillar form with highly characteristic histopathologic staining properties. The clinical presentation can vary from a focal, localized lesion where amyloidosis has minor clinical consequences to extensive systemic disease that can involve any organ system of the body. Ocular amyloidosis can occur as a localized lesion or as a part of a systemic disorder. Conjunctival amyloidosis is an uncommon condition that is rarely associated with systemic disease. It may be a manifestation of an immunologic disorder. Case Report. We report the case of a patient with bilateral conjunctival amyloidosis who was referred to us with the suspicion of a malignant conjunctival lesion. Examination of both eyes showed a yellow-pink mass with prominent intrinsic vessels, subconjunctival hemorrhage, and ectropion of the left lower eyelid. Diagnosis of primary localized conjunctival amyloidosis was made based on histopathologic evaluation of incisional biopsy and negative systemic work-up. Conclusion. Ocular amyloidosis is a rare disease that is slowly progressive and has a wide variety of clinical presentations. Consequently, the clinical diagnosis is often overlooked or delayed. Definitive diagnosis is achieved through histopathologic evaluation of biopsy specimen.

Exceptional Cause of Massive Lymph Node Enlargement: Primary Localized Amyloidosis

Amyloidosis is very rarely the cause of lymph node enlargement. In the localized form of the disease, amyloidosis commonly attains the bladder, the lung and the skin. Lymph node amyloid deposition is very unusual in the localized form of the disease. In particular, cervical and mediastinal sites are uncommon. We report an exceptional case of primary localized AL amyloidosis presenting as generalized lymph node enlargement. Our patient was initially treated by colchicine but in front of disease progression, a treatment with prednisone and melphalan was necessary for stabilization. Clinician should consider primary amyloidosis in the check-list of etiologies causing lymph node enlargement.

Primary cutaneous localized amyloidosis of the penile shaft

Primary cutaneous localized amyloidosis of the penile shaft