Primary Cutaneous Amyloidosis Research Articles

A descriptive analysis of 21 patients with pulmonary amyloidosis: An observational study.

Pulmonary amyloidosis is an extremely rare disease, often detected incidentally because of its asymptomatic nature and potential to result in fatal outcomes. In this study, we aimed to present the clinical and radiological features of patients diagnosed with pulmonary amyloidosis by biopsy. This descriptive study included 21 patients with pathologically diagnosed pulmonary amyloidosis. Pulmonary amyloidosis was classified as diffuse alveolar-septal amyloidosis (DASA), cystic amyloidosis (CPA), tracheobronchial amyloidosis (TBA), nodular amyloidosis (NPA), and extraparenchymal pulmonary amyloidosis (pleural and mediastinal lymph node). Clinical, bronchoscopic, and radiological specific characteristics were presented in detail to be used for differential diagnosis. The median age of the patients was 63 (40-83) years, and 14 (66.7%) were male. Twenty patients (95.2%) presented with at least 1 comorbidity. All patients diagnosed with tracheobronchial amyloidosis were symptomatic at presentation, whereas those diagnosed with NPA/extraparenchymal amyloidosis were often asymptomatic. The patients included 1 case of DASA, 1 case of CPA, 10 cases of NPA, 6 cases of TBA, and 3 cases of extraparenchymal amyloidosis involving the mediastinal lymph node and pleura. Sixteen patients (76.2%) were classified as localized amyloidosis, while 5 patients (23.8%) were classified as systemic amyloidosis following the diagnosis of multiple myeloma, monoclonal gammopathy of undetermined significance, systemic lupus erythematosus, Sjogren's syndrome, and B-cell lymphoma. Bronchoscopic biopsies were sufficient for diagnosis, and notably, even transbronchial needle aspiration could be a useful diagnostic method. During the follow-up, we observed that the disease remained stable without progression. However, it is important to note that patients with concurrent malignancies experience fatal outcomes. In conclusion, it is crucial to distinguish pulmonary amyloidosis from other pulmonary diseases such as malignancies, infectious diseases, and interstitial lung diseases, which may have similar clinical and radiological findings. Bronchoscopic diagnostic methods are usually sufficient for the diagnosis. Although patients with pulmonary involvement mostly remain stable during long-term follow-up without progression, it is important to consider the risk of malignancy.

Endocrine Perspective of Cutaneous Lichen Amyloidosis: RET-C634 Pathogenic Variant in Multiple Endocrine Neoplasia Type 2

Background: Medullary thyroid carcinoma (MTC), the third most frequent histological type of thyroid malignancy, may be found isolated or as part of multiple endocrine neoplasia type 2 (MEN2). One particular subtype of this autosomal dominant-transmitted syndrome includes an association with cutaneous lichen amyloidosis, although, generally, a tide genotype–phenotype correlation is described in patients who carry RET proto-oncogene pathogenic variants. Methods: Our objective was to provide an endocrine perspective of a case series diagnosed with RET-positive familial MTC associated with cutaneous primary lichen amyloidosis amid the confirmation of MEN2. Six members of the same family had cutaneous lesion with different features (from hyperpigmented, velvety to red/pink appearance) and four of them harbored a RET pathogenic variant at 634 codon (exon 11): c.1900T>G, p.634G (TGC634CGC). Results: All six patients were females with the lesion at the interscapular region. Except for two women, four of these subjects were investigated and had MTC (three of them with postoperatory confirmation). The youngest affected individual was 6 years old. The three adult females were confirmed with RET pathogenic variant during their 30s, while the girl underwent the familial screening as a newborn. None of them had primary hyperparathyroidism until the present time, except for one subject, and two out of the three adults also had bilateral pheochromocytoma. Notably, all patients were rather asymptomatic from the endocrine perspective at the moment when endocrine tumor/cancer was confirmed, and the skin was progressively affected a few years before the actual MEN2 confirmation. Conclusions: This case series highlights the following key message: awareness of the dermatologic findings in MTC/MEN2 patients is essential since lesions such as cutaneous lichen amyloidosis might represent the skin signature of the endocrine condition even before the actual endocrine manifestations. These data add to the limited published reports with respect to this particular presentation, noting the fact that RET-C634 is the most frequent pathogenic variant in MEN2-associated lichen amyloidosis; females are more often affected; the interscapular region is the preferred site; the age of diagnosis might be within the third decade of life, while we reported one of the youngest patients with the lesion. The same RET pathogenic variant is not associated with the same dermatologic features as shown in the vignette. The same RET mutation does not mean that all family members will present the same skin anomaly.

Combined fractional CO2 laser with dimethyl sulfoxide (DMSO) 50% versus fractional CO2 Laser alone in the treatment of macular amyloidosis: clinical and histopathological assessment.

Macular amyloidosis (MA) could be of cosmetic concern with a significant psychological impact for patients, and its treatment is challenging. To compare the efficacy and safety of combined fractional CO2 laser with dimethyl sulfoxide (DMSO) 50% versus fractional CO2 laser alone in the treatment of macular amyloidosis. Twenty patients with macular amyloidosis were treated with monthly session of fractional CO2 laser only in one side of the lesion (area A), and fractional laser followed by application of DMSO 50% solution in the other side of the lesion (area B). All patients were evaluated clinically, by dermoscope and histopathology before and 3months after the end of 4 treatment sessions. Both treatments showed significant decrease of pigmentation after treatment (p < 0.001). There was non-significant decrease in rippling on both sides (p = 0.06). The median itching score dropped significantly after treatment from 9 to 3.5 in area A (laser only) and to 2 in area B (laser and DMSO), with non-significant difference between both areas (P = 0.244). Dermoscopic features after treatment showed fading and decreasing in multiple features in both areas A and B, with non-significant difference between the 2 areas. Histopathologically, there was significant reduction in the amyloid deposition after treatment in both areas A and B without significant difference between both areas. both fractional CO2 laser combined with topical DMSO 50% and fractional CO2 laser alone are safe and effective treatment options for MA with significant clinical improvement.

Surcharges cutanées endogènes

As in other organs, the diagnosis of endogenous cutaneous overload diseases is based on histopathological analysis of the lesions using special stainings, even if the clinical appearance is sometimes very suggestive. The lesions are sometimes very subtle and can be included in the group of "invisible" dermatoses, such as primary macular cutaneous amyloidosis or calciphylaxis. Superficial dermal melanosis or pigmentary incontinence generally reflects the post-inflammatory stage of a chronic or recurrent interface dermatitis. Section levels should be systematically performed to look for active lesions of diagnostic interest: Alcian blue staining to identify dermal mucinosis (connectivitis) and pan-T markers (fixed pigmented erythema, lichenoid mycosis fungoides, and vitiligo). Some pathologies have a prognostic impact, either because they reflect an underlying disease, monoclonal gammopathies, in particular myeloma, being one of the most common conditions in this context (AL amyloidosis, xanthoma and xanthogranuloma, scleromyxedema), or because they can be associated with visceral damage (AL amyloidosis, scleromyxedema). The clinical-pathological comparison is mandatory to rule out differential diagnoses, especially for life-threatening diseases: nodular amyloidosis and primary cutaneous amyloidosis versus systemic AL amyloidosis, papular mucinosis versus scleromyxedema and calcific panniculitis versus calciphylaxis.

Living with a RET gene mutation: patient perspectives.

Multiple endocrine neoplasia type 2 (MEN2) is the collective term for 2 distinct types of autosomal dominantly inherited neuroendocrine neoplasm (NEN) syndromes (Barakat, 2004); MEN2A and MEN 2B (or MEN3). MEN2 is characterised by medullary thyroid cancer (99%) and phaeochromocytoma (50%) but also other conditions according to specific genotype. MEN2A also includes a 25% risk of developing parathyroid hyperplasia and is now recognised as 4 separate syndromes: Classic MEN2A, MEN2A with cutaneous lichen amyloidosis (CLA), MEN2A with Hirschsprung's disease (HD) and Familial MTC (Wells, 2015). MEN2B accounts for around 5% of all MEN2 cases and predisposes patients to diffuse intestinal ganglioneuromatosis (Goncharova, 2020), mucosal neuromas, and musculoskeletal abnormalities (Henderson, 2022). MEN2 is autosomal dominantly inherited meaning that several generations in a single family may be affected by the same syndrome. We present a mini review of 4 case studies (x2 MEN2A, x2 MEN2B) that illustrate the advantages of RET testing, as well as some of the likely obstacles that must be overcome to receive a diagnosis of MEN2A or MEN2B. In addition, despite improved genotype/phenotype correlation in MEN2, we highlight that not all cases are 'typical' which emphasises the need for all MEN2 patients to be cared for in a centre of expertise and experience. Some of our case study patients or parents also took this opportunity to personally tell us more about their lives with MEN2, illustrating the need for more research into the psychosocial impact of these hereditary diseases.

Thyroid Malignancy and Cutaneous Lichen Amyloidosis: Key Points Amid RET Pathogenic Variants in Medullary Thyroid Cancer/Multiple Endocrine Neoplasia Type 2 (MEN2).

We aimed to provide an updated narrative review with respect to the RET pathogenic variants and their implications at the clinical and molecular level in the diagnosis of medullary thyroid cancer (MTC)/multiple endocrine neoplasia (MEN) type 2, particularly with respect to the presence of cutaneous lichen amyloidosis (CLA). We searched English-language, in extenso original articles with no timeline nor study design restriction that were published on PubMed. A traditional interplay stands for CLA and MTC in MEN2 (not MEN3) confirmation. While the connection has been reported for more than three decades, there is still a large gap in understanding and addressing it. The majority of patients with MEN2A-CLA have RET pathogenic variants at codon 634; hence, it suggests an involvement of this specific cysteine residue in both disorders (most data agree that one-third of C634-positive subjects have CLA, but the ranges are between 9% and 50%). Females seem more prone to MEN2-CLA than males. Non-C634 germline RET pathogenic variants included (at a low level of statistical evidence) the following: RET V804M mutation in exon 14 for MTC-CLA (CLA at upper back); RET S891A mutation in exon 15 binding OSMR variant G513D (familial MTC and CLA comprising the lower legs to thighs, upper back, shoulders, arms, and forearms); and C611Y (CLA at interscapular region), respectively. Typically, CLA is detected at an early age (from childhood until young adulthood) before the actual MTC identification unless RET screening protocols are already applied. The time frame between CLA diagnosis and the identification of RET pathogenic variants was between 5 and 60 years according to one study. The same RET mutation in one family is not necessarily associated with the same CLA presentation. In MTC/MEN2 subjects, the most affected CLA area was the scapular region of the upper back. Alternatively, another hypothesis highlighted the fact that CLA is secondary to long-term prurit/notalgia paresthetica (NP) in MTC/MEN2. OSMR p. G513D may play a role in modifying the evolutionary processes of CLA in subjects co-harboring RET mutations (further studies are necessary to sustain this aspect). Awareness in CLA-positive patients is essential, including the decision of RET testing in selected cases.

A case presentation of widespread macular amyloidosis associated with dual hepatitis B and hepatitis C infection

A case presentation of widespread macular amyloidosis associated with dual hepatitis B and hepatitis C infection

51367 Correlation between pruritus and histopathological characteristic in Primary Cutaneous Amyloidosis (PCA)

51367 Correlation between pruritus and histopathological characteristic in Primary Cutaneous Amyloidosis (PCA)

The effect of topical tranexamic acid with micro-needling and micro-needling alone in treatment of macular amyloidosis.

Macular amyloidosis is a form of primary localized cutaneous amyloidosis presented by pruritic pigmented macules in rippled or reticulate pattern. The aim of this study was to assess the efficacy of using topical tranexamic acid with micro-needling comparing to micro-needling alone in patients with macular amyloidosis. Patients with bilaterally located macular amyloidosis on trunk or upper extremities were recruited in this trial. The skin lesions in all patients were divided into two parts which were randomly assigned to the group of treatment with micro-needling plus tranexamic acid and the group of micro-needling alone. There were four sessions of treatment with 2 weeks interval. The percentage of improvement in pigmentation (based on photographs and dermoscopy) and rippling of each group was determined by three blinded dermatologists. The level of patient satisfaction and reduction of pruritus was measured by a questionnaire and defined as a percentage. Twenty females were enrolled in this study. The mean (SD) patients' age was 39.7 (±10.13) years. Both groups showed improvement in pigmentation based on images, dermoscopy, and rippling pattern. Patients' satisfaction was 46.5% in tranexamic acid group and 47.5% in micro-needling alone. Nevertheless, there was no significant difference between both groups (p value >0.05). Interestingly, the pruritus improved 61.66% after four sessions of treatment in both groups. Micro-needling is a suitable modality for decreasing pruritus and pigmentation in macular amyloidosis. However, topical application of tranexamic acid does not lead to additional improvement.

Bristol Cup PostersP001 A descriptive, observational and cross-sectional study of clinicoepidemiological, dermoscopic and histopathological aspects of primary localized cutaneous amyloidosis and its effect on the quality of life of the patient

Bristol Cup PostersP001 A descriptive, observational and cross-sectional study of clinicoepidemiological, dermoscopic and histopathological aspects of primary localized cutaneous amyloidosis and its effect on the quality of life of the patient

Comprehensive evaluation of enzymatic proteolysis for amlyoid reduction in macular amyloidosis by in vitro, in vivo and in silico methods

Comprehensive evaluation of enzymatic proteolysis for amlyoid reduction in macular amyloidosis by in vitro, in vivo and in silico methods

Penile nodules and ulcer.

Primary amyloidosis of the penis is an uncommon variant of localized amyloidosis. The clinical presentation is variable, ranging from waxy or infiltrated nodules or plaques typical for nodular amyloidosis, to hyperpigmented macules in macular amyloidosis, and papules or plaques in lichen amyloidosis. Amyloidosis should be suspected and Congo red staining performed in cases of clinically uncommon penile masses or ulcers, or histologically atypical hyalinization.

Widespread Primary Nodular Cutaneous Amyloidosis Due to Local Plasmacytomas

Widespread Primary Nodular Cutaneous Amyloidosis Due to Local Plasmacytomas

Amyloidosis Cutis Dyschromica: A Rare Subtype of Primary Cutaneous Amyloidosis with Dermoscopy.

Amyloidosis Cutis Dyschromica: A Rare Subtype of Primary Cutaneous Amyloidosis with Dermoscopy.

Cutaneous amyloidosis in a patient with systemic amyloidosis due to multiple myeloma

Cutaneous manifestations in systemic amyloidosis secondary to multiple myeloma or AL amyloidosis are seen in approximately 15%-40% of patients with systemic amyloidosis. Cutaneous involvement has a preference for skin folds, retroauricular region, eyelids, neck and the axilla and may present in the form of purpura, domed papules or nodes resembling isolated nodular amyloidosis. Congo red staining remains the gold standard for diagnosis, revealing amyloid fibrils with apple-green birefringence in the polarized microscopy. It is noteworthy that patients may sometimes present with non-specific skin changes, suggestive of depositional disease, such as alopecia or nail dystrophy. Herein, we present a patient with systemic amyloidosis, who exhibited red-brown macules coalescing into a rippled pattern in the extremities, amyloid nodules in the peri-auricular region and dystrophic nails, findings that were attricuted to cutaneous amyloidosis in the context of systemic amyloidosis.

A clinico-epidemiological study of different dermoscopic patterns in hyperpigmented facial lesions in a tertiary care centre.

Facial pigmentation is a common presentation of patients attending dermatology out patient department (OPD) and is of great concern to patients. Facial pigmentation may be multifactorial and is only rarely diagnosed accurately by a detailed history and clinical examination. Pigmentary disorders cause psychological distress and negatively impact the quality of life of an individual. (1) To study different dermoscopic patterns in facial melanosis. (2) To estimate the frequency of different dermoscopic patterns. Patients with facial hyperpigmentation attending the dermatology OPD were recruited after taking their written consent. A detailed history was taken to collect demographic data. Clinical examination and dermoscopy were done in all patients. Biopsy was done as and when required. Descriptive statistics has been used to describe the quantitative data. Qualitative data were presented as frequency and percentage for clinical and dermoscopic patterns. The study included 100 patients with 15 different facial melanoses. The most common age group affected was 21-40 years in 53 (53%) cases. The female-to-male ratio was 1.63:1. Melasma was reported as the most common cause of facial melanosis constituting 49 (49%) of the total cases. Out of the total melasma cases, epidermal melasma constituted 22 (45%) cases, dermal melasma constituted four (4%) cases and mixed melasma constituted 23 (47%) cases. Other cases included were lichen planus pigmentosus (14; 14%), facial acanthosis nigricans (14; 14%), periorbital hyperpigmentation (7; 7%), post-inflammatory hyperpigmentation (4; 4%), exogenous ochronosis (2; 2%), lentigines (2; 2%), frictional melanosis (2;2%), and one case each of Becker's nevus, nevus of Ota, olanzapine-induced hyperpigmentation, Riehl's melanosis, macular amyloidosis, and tanning. Melasma was reported as the most common cause of facial melanosis. The most common dermoscopic feature was accentuated pseudopigment network. The study is beneficial in understanding the different clinical and dermoscopic patterns of facial melanosis, thus helping the physician to effectively manage the conditions and reduce the need of biopsy. (1) A small sample size. (2) Histopathological correlation was not done in all cases.

Dermoscopy of Primary Localized Cutaneous Nodular Amyloidosis.

Dermoscopy of Primary Localized Cutaneous Nodular Amyloidosis.

Efficacy of topical gabapentin in women with primary macular amyloidosis: A side-by-side triple-blinded randomized clinical trial.

Primary cutaneous macular amyloidosis (PCMA) is a chronic pruritic cutaneous disease characterized by heterogeneous extracellular deposition of amyloid protein in the skin. This study aimed to evaluate the efficacy of topical 6% gabapentin cream for the treatment of patients with PCMA. In this triple-blind clinical trial, a total of 34 patients, who were diagnosed with PCMA, treated using two different strategies of topical gabapentin as the active group and vehicle cream as the control group. Pruritus score reduction in both groups was statistically significant compared with the baseline value (p < 0.001). There was a significant pigmentation score reduction in intervention group compared with control group after 1 month of the study (p < 0.001). The differences of pigmentation score changes between the groups were not significant at month 2 (p = 0.52) and month 3 (p = 0.22). The results of this study suggest that topical gabapentin cream may be effective as a topical agent in the treatment of pruritus associated with PCMA without any significant adverse effects. It is recommended to perform similar studies with a larger sample size and longer duration in both sexes.

MANAGEMENT OF LICHEN AMYLOIDOSIS THROUGH AYURVEDA: A CASE STUDY

Lichen Amyloidosis is a chronic pruritic skin disorder of unknown origin characterized by Amyloid deposition in skin. Excessive scratching and consistent friction between skin can damage the epidermis of skin leading to extracellular protein accumulation which creates papules and rashes. A case of 74-year male patient presented with blackish papules associated with itching in bilateral shin region with no relevant family history and was diagnosed as Lichen Amyloidosis. As per Ayurveda on basis of Dosha, Kaphavataja Kushta i.e., Kitibha Kusta can be corelated to Lichen Amyloidosis. In conventional treatment as there is no known cure for amyloidosis, in the present case, treatment was planned based on the principles of Kusta chikitsa depending on Dosha dominence. Snehana, Swedana, Virechana and Shamana treatment was followed. Treatment shows marked improvement from symptoms which proves that Dosha/Lakshana based approach has good outcomes in chronic disorders of unknown origin also.

Evaluation and comparison of Q-switched Nd: YAG laser 1064 nm and Er: YAG laser 2940 nm in the treatment of macular amyloidosis.

Macular amyloidosis (MA) is one of the most common types of primary localized cutaneous amyloidosis (PLCA), distributed predominantly over the trunk and extremities. Due to the vast therapeutic options, this study aims to compare the effectiveness of Q-switched Nd: YAG laser 1064 nm and Er: YAG laser 2940 nm in treating MA. This clinical trial was performed in 2020-2021 on 33 women with MA. In each patient, the lesion was randomly divided into two areas, A and B. Area A underwent four treatment sessions with 4-week intervals of Q-switched Nd: YAG laser 1064 nm. Area B underwent four treatment sessions with an Er: YAG laser 2940 nm at 4-week intervals. Degree of basal pigmentation and degree of pigmentation after treatment, pruritus intensity, before and after the treatment, and patient and physicians' satisfaction were measured and compared. The pruritus in patients improved significantly after the study (P < 0.001), but no significant differences could be observed between the two groups regarding the improvements (P > 0.05). We also found no significant differences between the two groups of patients regarding patient and physicians' satisfaction rates (P > 0.05). The use of both Q-switched Nd: YAG laser and Er: YAG laser resulted in improvements in terms of pruritus, patient and physicians' satisfaction, and total improvement in pigmentation of the lesions.