Primary Cutaneous Amyloidosis Research Articles

Primary cutaneous amyloidosis: A review of the available studies and gaps in data.

Australasian Journal of DermatologyEarly View REVIEW ARTICLE Primary cutaneous amyloidosis: A review of the available studies and gaps in data Tim Aung FRACGP, FRNZCGP, Dip in Gen Derm and Skin Cancer Surgery, Certificate in Dermatoscope, Corresponding Author Tim Aung FRACGP, FRNZCGP, Dip in Gen Derm and Skin Cancer Surgery, Certificate in Dermatoscope [email protected] orcid.org/0000-0001-9067-2203 General Practice, Brisbane, Queensland, Australia Correspondence Tim Aung, C/- Star Medical Centre-Woodridge, 29 Station Rd, Logan Central, Qld 4114, Australia. Email: [email protected]Search for more papers by this authorRowland Noakes FACD, Rowland Noakes FACD orcid.org/0000-0001-9908-3325 Queensland Institute of Dermatology, South Brisbane, Queensland, AustraliaSearch for more papers by this authorDedee F. Murrell MA (Cambridge) BMBCh (Oxford) FAAD (USA) MD (UNSW) FACD, FRCP (Edin) DSc (Oxford), Dedee F. Murrell MA (Cambridge) BMBCh (Oxford) FAAD (USA) MD (UNSW) FACD, FRCP (Edin) DSc (Oxford) orcid.org/0000-0003-2971-0199 Faculty of Medicine, UNSW Medical School, Sydney, New South Wales, Australia Department of Dermatology, St George Hospital Campus, Kogarah, Sydney, New South Wales, Australia The George Institute for Global Health, Sydney, New South Wales, AustraliaSearch for more papers by this authorBenjamin S. Daniel MMed (Clin Epi), FACD, Benjamin S. Daniel MMed (Clin Epi), FACD orcid.org/0000-0002-2675-1115 Department of Dermatology, St Vincent's Hospital- Melbourne, St George Hospital- Sydney, University of New South Wales, Sydney, New South Wales, AustraliaSearch for more papers by this authorAwatef Kelati MD, Awatef Kelati MD orcid.org/0000-0003-2570-4584 Department of Dermatology, Cheikh Khalifa International University Hospital, Mohammed VI University of Health Sciences (UM6SS), Casablanca, MoroccoSearch for more papers by this author Tim Aung FRACGP, FRNZCGP, Dip in Gen Derm and Skin Cancer Surgery, Certificate in Dermatoscope, Corresponding Author Tim Aung FRACGP, FRNZCGP, Dip in Gen Derm and Skin Cancer Surgery, Certificate in Dermatoscope [email protected] orcid.org/0000-0001-9067-2203 General Practice, Brisbane, Queensland, Australia Correspondence Tim Aung, C/- Star Medical Centre-Woodridge, 29 Station Rd, Logan Central, Qld 4114, Australia. Email: [email protected]Search for more papers by this authorRowland Noakes FACD, Rowland Noakes FACD orcid.org/0000-0001-9908-3325 Queensland Institute of Dermatology, South Brisbane, Queensland, AustraliaSearch for more papers by this authorDedee F. Murrell MA (Cambridge) BMBCh (Oxford) FAAD (USA) MD (UNSW) FACD, FRCP (Edin) DSc (Oxford), Dedee F. Murrell MA (Cambridge) BMBCh (Oxford) FAAD (USA) MD (UNSW) FACD, FRCP (Edin) DSc (Oxford) orcid.org/0000-0003-2971-0199 Faculty of Medicine, UNSW Medical School, Sydney, New South Wales, Australia Department of Dermatology, St George Hospital Campus, Kogarah, Sydney, New South Wales, Australia The George Institute for Global Health, Sydney, New South Wales, AustraliaSearch for more papers by this authorBenjamin S. Daniel MMed (Clin Epi), FACD, Benjamin S. Daniel MMed (Clin Epi), FACD orcid.org/0000-0002-2675-1115 Department of Dermatology, St Vincent's Hospital- Melbourne, St George Hospital- Sydney, University of New South Wales, Sydney, New South Wales, AustraliaSearch for more papers by this authorAwatef Kelati MD, Awatef Kelati MD orcid.org/0000-0003-2570-4584 Department of Dermatology, Cheikh Khalifa International University Hospital, Mohammed VI University of Health Sciences (UM6SS), Casablanca, MoroccoSearch for more papers by this author First published: 24 February 2023 https://doi.org/10.1111/ajd.14012Read the full textAboutPDF 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 onFacebookTwitterLinkedInRedditWechat Early ViewOnline Version of Record before inclusion in an issue RelatedInformation

Pulmonary multinodular amyloidosis: A case report

Nodular pulmonary amyloidosis is rare in our environment with a low incidence. A 77 year old female patient, who began her illness 20 days before hospital admission with sporadic non productive cough without attack to the general condition

Nodular amyloidosis of the lung presenting as lung malignancy

Introduction. Amyloidosis is a disease associated with the extracellular deposition of insoluble protein material called amyloid. It can be acquired or hereditary, systemic or organ-limited. Nodular pulmonary amyloidosis is defined as one or more tumefactive amyloid deposits in the lungs. Outlines of cases. This study presents two cases that were hospitalized at the Institute for Pulmonary Diseases to clarify the origin of lesions detected on computed tomography (CT) scans of lung parenchyma. In the first case, in a 78-year-old woman, numerous non-calcified nodules were described on the chest CT. The patient died during hospitalization, and the autopsy revealed diffusely distributed greyish-yellow nodular lesions in the upper and middle parts of the right lung, as well as lesions in the form of partially calcified nodules in both lungs. Histological analysis of samples from macroscopically described nodules confirmed nodular amyloidosis. The second patient is male, 58 years old, who was operated on for rectal adenocarcinoma three years ago. A CT scan of the lung parenchyma shows a tumor nodule localized in the lower lobe and a nodular lesion localized in the upper lobe of the right lung. Histological analysis confirmed that the lesion from the lower lobe corresponds to the metastasis of colorectal cancer, while in the lesion from the upper lobe amyloid deposits were found. Conclusion. Pulmonary nodular amyloidosis is a rare condition, and because of the imaging similarities it is difficult to distinguish it from malignant nodules in the lung parenchyma. Therefore, as a part of routine practice, a definitive diagnosis of amyloidosis needs to be confirmed by tissue biopsy.

Clinical Characteristics of Lichen Amyloidosis Associated with Atopic Dermatitis: A Single Center, Retrospective Study.

Lichen amyloidosis is a chronic pruritic skin disorder associated with atopic dermatitis, however, the pathogenetic link between these two conditions remains to be elucidated. Only limited research has been performed on patients diagnosed with both pruritic dermatological conditions. This study aimed to analyze the clinical features of lichen amyloidosis associated with atopic dermatitis. We conducted a matched case-control study of incident lichen amyloidosis with atopic dermatitis between March 2020 and February 2022. Among the 2,481 patients with atopic dermatitis, 20 patients diagnosed with lichen amyloidosis and atopic dermatitis were included as case patients, and 20 patients diagnosed with atopic dermatitis were enrolled as controls. The controls were matched to cases (1:1) by age and sex. We retrospectively reviewed the medical records of the patients. The prevalence of lichen amyloidosis associated with atopic dermatitis was approximately 0.8%, with a male:female sex ratio of 2.33:1. The recorded onset of lichen amyloidosis associated with atopic dermatitis was more common in adult patients, with moderate-to-severe atopic dermatitis. Lichen amyloidosis lesions in patients with atopic dermatitis were most commonly found on the extremities, sparing the head and neck region. The presence of lichen amyloidosis had no significant impact on severity of atopic dermatitis. In patients with lichen amyloidosis associated with atopic dermatitis, the clinical manifestations of lesions are similar to those of conventional lichen amyloidosis lesions in terms of morphology and regional distribution. Further research is required to elucidate the link between the pathogenesis of these two pruritic dermatological conditions.

Cutaneous Sarcoidosis Masquerading as Papular Amyloidosis Revealed Post--Hair Removal.

Cutaneous Sarcoidosis Masquerading as Papular Amyloidosis Revealed Post--Hair Removal.

Macular amyloidosis, a type of pigmentation in atopic dermatitis that is pathogenically related

Macular amyloidosis, a type of pigmentation in atopic dermatitis that is pathogenically related

Primary localized cutaneous amyloidosis − a review

Amyloidosis describes a group of diseases characterized by abnormal extracellular deposition of a fibrillar protein in tissues. It comprises of a spectrum of diseases ranging from a mild asymptomatic cutaneous involvement to a progressive life-threatening multisystem disorder. Primary localized cutaneous amyloidosis (PLCA) is characterized by pruritus, hyperpigmentation, and lichenification. Demonstration of amyloid in dermal papillae by various techniques confirms the diagnosis. Three types are described, macular, lichen/papular, and nodular. Majority of cases of PLCA are sporadic but an autosomal dominant family history may be present in up to 10% of cases. Exact pathogenesis is not elucidated yet, but several factors like friction, sunlight, genetics, atopy, immune dysregulation have been implicated. Pathogenic mutations in oncostatin M receptor and the interleukin (IL)-31 receptor A gene (IL31RA) have an important role to play in the pathogenesis of both familial and sporadic PLCA. Nodular amyloidosis, the rarest type of PLCA, is known to progress to systemic amyloidosis in 7% to 15% of cases, hence a long-term follow up is recommended. The plethora of treatment options reported to be beneficial in cutaneous amyloidosis underscores the fact that none of the modality is universally effective.

Improvement in Lesions of Co-Existing Lichen Amyloidosis and Vitiligo with Dexamethasone Oral Mini Pulse Therapy.

Improvement in Lesions of Co-Existing Lichen Amyloidosis and Vitiligo with Dexamethasone Oral Mini Pulse Therapy.

Amyloidosis Cutis Dyschromica in a 16-Year-Old Filipino Girl: A Case Report

Amyloidosis cutis dyschromica is a rare variant of primary cutaneous amyloidosis characterized by hyper- and hypopigmented macules. In this paper, we reported a case of a 16-year-old Filipino girl with hyper- and hypopigmented to depigmented macules on the upper and lower extremities, which started when she was 9 years of age.

880: PULMONARY AMYLOIDOSIS ASSOCIATED WITH B CELL LYMPHOPROLIFERATIVE DISORDER: A CASE REPORT

Introduction: Amyloidosis is caused by the deposition of misfolded autologous proteins in various organs and can be systemic or localized. AL amyloidosis is often associated with plasma cell disorder but here we report a rare case of Isolated Nodular Pulmonary Amyloidosis associated with a B cell Lymphoproliferative Disorder. Description: An 89 year old female with a past medical history of pulmonary arterial hypertension presented to the clinic with chronic stable exertional dyspnea and no associated symptoms. Four years prior, a computed tomography (CT) of the chest showed multiple bilateral calcified and noncalcified lung nodules with no further work-up. Chest X-ray performed at current presentation revealed extensive pulmonary reticulonodular shadowing at the peripheries with extensive fibrotic changes and scattered nodules. Subsequent CT chest showed interval increase of several bilateral nodules. A PET-CT showed multiple mildly hypermetabolic nodules. A CT guided needle biopsy of an FDG avid right upper lobe nodule measuring 1.5 x 1.4 cm was performed. Pathology was significant for homogenous acellular amorphous material with an entrapped plasma cell infiltrate. Congo red stain confirmed the presence of apple green birefringence diagnostic of amyloidosis. Immunohistochemistry showed a mixture of kappa-positive and lambda-positive cells, with kappa-positive cell predominance suggestive of an atypical plasma cell population. Clonal gene rearrangements were detected in both the immunoglobulin heavy chain and light chain gene which highly suggested the presence of a B-cell Lymphoproliferative Disorder. The patient was subsequently referred to oncology for further management. Discussion: Pulmonary Amyloidosis is an incidental radiological finding with patients being asymptomatic. CT chest may show lung nodules with/without calcifications. Biopsy is required for diagnosis with radiology guided fine needle aspiration. Isolated pulmonary amyloidosis has a good prognosis but should trigger evaluation for autoimmune disorders and B cell lymphoproliferative disorders as in this case with early referral and treatment of the underlying disorder.

Lichen amyloidosis with combined topical therapy: a case report

Introduction: Lichen amyloidosis (LA) is a rare case, characterized by circumscribed, highly pruritic, hyperkeratotic, and hyperpigmented papules occurring typically over the shins, outer aspects of upper arms, and on the upper back with amyloid deposits in the papillary dermis. Several therapeutic strategies, including topical steroids, oral antihistamines, cyclosporine, retinoids, laser, phototherapy, cryosurgery, and surgical interventions, have been reported as treatment options for patients with LA, but no standardized treatment has been established.
 Case report: A 58-year-old man came to the Dermatovenereology Outpatient Department complaints of itchy blackish-brown papules on the shins. Dermatology examination found discrete multiple hyperpigmentation papules and plaque covered with white scale. A scar-like center surrounded by brownish circles or white edges was found from the dermoscopic examination. The histopathological examination found thickened keratin with compact orthokeratosis and hyaline materials in the papillary dermis with dendritic melanophages. The patient diagnosed with LA and treated by combining desoximetasone cream 0.25% with 3% salicylic acid. The papules on the legs had flattened in the patient, with a significant improvement in the severe itching after three weeks.
 Conclusion: Combination therapy of potent corticosteroids and keratolytic seems to be an appropriate modality and well-tolerated by LA patients. Skin lesion becomes thinner, and pruritus is reduced.

High-Frequency Electrosurgery for Generalized Lichen Amyloidosis.

High-Frequency Electrosurgery for Generalized Lichen Amyloidosis.

RF07 | PSUN366 An Uncommon Path Leading to Diagnosis of Multiple Endocrine Neoplasia 2A

Abstract Introduction MEN2 is a rare Autosomal Dominant disorder resulting from mutations in the RET proto-oncogene. MEN2 is classified into two distinct syndromes: MEN2A and MEN2B. MEN2A is a syndrome that presents with Medullary Thyroid Carcinoma (MTC) in 90% of adult gene carriers, unilateral or bilateral pheochormocytoma in 50%, and multigland parathyroid tumors in 20-30% of affected individuals. Other rare variants of MEN2 include Familial Medullary Thyroid Carcinoma (FMTC), MEN2A with cutaneous lichen amyloidosis, and MEN2A or FMTC with Hirschprung's disease. We present a patient with incidentally noted elevated calcitonin levels, later diagnosed with MEN2A. Clinical Case 37-year-old Caucasian male was referred to our clinic for elevated calcitonin levels noted on lab work done as part of evaluation and management for weight loss prior to initiating GLP-1 agonists. He was diagnosed with hypothyroidism and multinodular goiter and started on Synthroid. His only symptoms were weight gain, tiredness, soft stools and facial flushing He denied any family history of endocrine disorders. Physical exam was unremarkable. Pertinent labs included serum calcitonin 93 pg/mL (<10 pg/mL), serum CEAg 5.2 ng/mL (0-3 ng/mL), and work up for pheochromocytoma and hyperparathyroidism was negative. USG thyroid showed a left lobe thyroid nodule measuring 7×5×7 mm with macrocalcifications, a right lobe thyroid nodule measuring 8×5×10mm, and an abnormal left lateral level III LN. He underwent left thyroid lobectomy with level VI neck dissection (total thyroidectomy aborted due to hypoxia), and subsequently completion thyroidectomy with right central neck dissection. Pathology showed metastatic MTC with pathologic staging pT1aN1a. Genetic testing showed RET c. 1826G>A (p. C609Y) which is ATA – MOD risk. Patients’ father was also genetically screened and diagnosed with MEN2A and noted to have elevated calcitonin levels. He also subsequently underwent total thyroidectomy, which revealed medullary thyroid microcarcinoma. Conclusion A number of studies support that measurement of serum calcitonin is the most sensitive screening test for detecting occult MTC in individuals with thyroid nodules. Yet, the use of serum calcitonin in the routine evaluation of thyroid nodules is controversial due to absence of uniform calcitonin thresholds, high false positive values and unavailability of pentagastrin stimulation testing. Moreover, there are no recommendations based on the current data to check calcitonin levels prior to initiating GLP-1 agonists but their use is not recommended in patients with personal or family history of MTC/MEN2. Based on the above case, measurement of calcitonin levels should be a part of the work up in patients who present with thyroid nodules and are receiving GLP-1 agonists. Attention should also be paid to the importance of genetic counseling in first-degree relatives of patients with MEN2A. This allows for timely diagnosis and reduces morbidity and mortality. Presentation: Saturday, June 11, 2022 1:30 p.m. - 1:35 p.m., Sunday, June 12, 2022 12:30 p.m. - 2:30 p.m.

Keratinic amyloid deposition in canine hair follicle tumors.

Keratinic primary localized cutaneous amyloidosis is a disease in humans; however, no similar condition has been reported in animals. This study aimed to investigate cutaneous keratinic amyloid deposition in dogs and elucidate its etiology. Canine hair follicle tumor tissues were histopathologically analyzed. Immunohistochemistry and mass spectrometry-based proteomic analyses were performed to identify precursor protein candidates. Structural prediction and in vitro fibrillization analyses were conducted to determine the amyloidogenic region and gene sequencing analysis was performed to assess mutations. Of the 266 samples, 16 had amyloid deposition. Amyloid deposits were found in the stroma of tumors and in the margins of keratin debris and around normal hair follicles. Cytokeratin 5 (CK5) was identified as a precursor protein candidate. C-terminal truncation of CK5 was observed in amyloid deposits, and the truncation sites varied depending on the deposition pattern. There was a significantly higher incidence of amyloid deposition in Shiba dogs, and CK5 amino acid polymorphisms were identified in these dogs. A part of the C-terminal region of both canine and human CK5 exhibited highly amyloidogenic properties in vitro. This study revealed the existence of cutaneous keratinic amyloid deposition in animals and identified CK5 as an amyloid precursor protein, providing novel insights into understanding the etiology of cutaneous amyloidosis.

A 69-YEAR-OLD MAN WITH HEAVY ASBESTOS EXPOSURE, DYSPNEA, AND PLEURAL SOFT-TISSUE THICKENING

A 69-YEAR-OLD MAN WITH HEAVY ASBESTOS EXPOSURE, DYSPNEA, AND PLEURAL SOFT-TISSUE THICKENING

Dermoscopy aids in differentiating primary cutaneous amyloidosis and post-inflammatory hyperpigmentation: A clinico-dermoscopic-histopathaological study.

Primary cutaneous amyloidosis (PCA) and post-inflammatory hyperpigmentation (PIH) are common causes of cutaneous hyperpigmentation that are usually diagnosed clinically. However, their presentations are sometimes atypical, and their differentiation is difficult. Dermoscopy is a valuable diagnostic tool for pigmented diseases that might aid in their diagnosis. To describe the characteristic dermoscopic features of PCA and PIH together with histopathological correlation, and to differentiate between these conditions in a non-invasive way. Fifty-two patients with PCA (n=26) and PIH (n=26) were enrolled. A detailed history, skin examination, dermoscopic examination using handheld and video dermoscopy, and histopathological evaluation were performed. A statistically significant difference could be detected between PCA and PIH in terms of the duration of the disease (p=0.027), symmetry (p=0.044), rippling (p < 0.001), and back affection (p=0.048). On dermoscopic examination, central hubs were seen more in the PCA group (p < 0.001) with different patterns of peripheral pigmentation. Histopathologically, the number of melanophages per high-power field was significantly higher in the PCA group (p=0.013). The results of this study shed the light on the potential of dermoscopy as a non-invasive diagnostic tool in differentiating between doubtful cases of PCA and PIH.

A comparative study of 30% Trichloroacetic acid chemical peel with Q switched Nd-YAG laser 1064nm in the treatment of Macular amyloidosis

Macular amyloidosis (MA) is the subtlest of the cutaneous varieties of amyloidosis. In general, the treatment of MA is disappointing. Hence, this study was aimed at comparing the two treatment modalities for the same. To compare the efficacy of 30% TCA chemical peel with Q switched Nd-YAG laser 1064nm in the treatment of macular amyloidosis. 50 patients of MA attending our Dermatology outpatient department were enrolled in the study. The study involved application of 30% TCA in 25 patients at an interval of 2 weeks for 10 sittings and Q switched Nd-YAG laser 1064 in 25 patients at an interval of 1 month for 5 sittings. Digital photographs were taken before treatment and then periodically. The response was graded percentage of reduction in pigmentation both by the patient and the observer. The patients were followed up for 5 months post treatment for recurrence. Both TCA peel and Q switched Nd-Yag laser 1064nm were effective in the treatment of macular amyloidosis. switched Nd-Yag laser 1064nm showed better response compared to TCA peel at the end of the treatment, both by subjective and objective methods and in terms of less number of sittings and fewer side effects. The difference was statistically significant (P &amp;#60;0.05).No permanent side effects were seen in any of the treated patients and the improvement was sustained without any relapse at 5 months except in one patient in the peel group. Both these treatment modalities are effective and safe in the treatment of MA. Q switched Nd-Yag laser 1064nm was found to be marginally superior to TCA peel.

Clinical and genetic analysis of seven Chinese pedigrees affected with multiple endocrine neoplasia type 2A with cutaneous lichen amyloidosis

To explore the pathological characteristics and significance of RET proto-oncogene screening in multiple endocrine neoplasia type 2A (MEN2A) with cutaneous lichen amyloidosis (CLA). Clinical data of 51 members from 7 unrelated pedigrees of MEN2A-CLA were collected. Systemic clinical investigations including biochemical testing, imaging examination, germline RET variant screening and histopathological examination were carried out. RET gene variants were detected in 28 patients with MEN2A (C634G/F/R/S/W and C611Y) including 12 males and 16 females, with the mean age of diagnosis being (41.1 ± 18.3) years old, which were consistent with their clinical manifestations. The incidence of medullary thyroid carcinoma (MTC), pheochromocytoma (PHEO), hyperparathyroidism (HPTH) and CLA among 28 MEN2A patients were 89.3%, 28.6%, 7.1% and 28.6%, respectively. Comparison of the incidence of MTC/PHEO/HPTH and CLA between C611Y and C634G/F/R/S/W, only PHEO and CLA in C611Y were lower than those in C634G/F/R/S/W (P < 0.05; P < 0.05). Among 8 patients with CLA, the male to female ratio was 2 : 6. The clinical features included pruritus in the interscapular region and presence of dry, thickened, scaly, brown pigment, clustered or desquamate-like plaques. The mean onset age of CLA [(18.4 ± 4.6) years] versus the mean age at diagnosis of CLA or MEN2A were significantly different (P < 0.001; P < 0.001). MEN2A-CLA may be the early clinical manifestation of MEN2A and most frequently occurred along with RET-C634 variant. To facilitate the recognition of MEN2A-CLA, to combine family investigation and screening of RET variant are helpful for early diagnosis and standardized treatment, which can improve the long-term outcome of MEN2A-specific tumors.

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.

Localized cutaneous nodular amyloidosis associated with Sjögren’s syndrome

Localized cutaneous nodular amyloidosis associated with Sjögren’s syndrome