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cutaneous amyloidosis

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https://www.readbyqxmd.com/read/29420094/the-clinical-spectrum-of-multiple-endocrine-neoplasia-type-2a-with-cutaneous-lichen-amyloidosis-in-ethnic-han-chinese
#1
Xiao-Ping Qi, Jian-Qiang Zhao, Zhi-Lie Cao, Er Fu, Feng Li, Yi-Hua Zhao, Guang-Ping Wang, Peng-Fei Li, Wo-Long Ma, Jian Guo, Hong Jia
This study systematically reviewed previous literatures and analyzed the genotype-phenotype relationship between the multiple endocrine neoplasia type 2A (MEN 2A)-cutaneous lichen amyloidosis (CLA) and RET/OSMR/IL31RA mutations. RET/OSMR/IL31RA screening was performed on 8 RET-carriers from 3 independent Chinese MEN 2A families. Besides, 51 MEN 2A-CLA patients in 116 RET carriers from literatures were clustered and analyzed. Our results indicated that almost all MEN 2A-CLA patients exhibited CLA which was located in the scapular region and carried RET mutation at codon 634...
February 8, 2018: Cancer Investigation
https://www.readbyqxmd.com/read/29419851/-identification-of-pathogenic-mutations-in-two-chinese-families-affected-with-primary-localized-cutaneous-amyloidosis
#2
Bin Mao, Xu Yao, Zheng Wang, Xiuli Zhao
OBJECTIVE To identify potential mutations in two Chinese families affected with primary localized cutaneous amyloidosis. METHODS Peripheral blood samples of the family were collected with informed consent. Genomic DNA was extracted with a phenol chloroform method. All of the 17 exons and their flanking splicing sites of the OSMR gene were amplified with PCR and subjected to Sanger sequencing. Suspected mutations were verified with PCR - restriction fragment length polymorphism and high-resolution melting assays...
February 10, 2018: Zhonghua Yi Xue Yi Chuan Xue za Zhi, Zhonghua Yixue Yichuanxue Zazhi, Chinese Journal of Medical Genetics
https://www.readbyqxmd.com/read/29400590/lichen-amyloidosis-successfully-treated-with-fractional-ablative-laser-co2-a-new-alternative-therapeutic
#3
Mouna Korbi, Hayet Akkari, Yosra Soua, Mariem Mohamed, Monia Youssef, Hichem Belhajdali, Jameledine Zili
Lichen amyloidosis is a primary localized cutaneous amyloidosis. Different types of treatment have been used without complete resolution. Herein, we report a case of patient suffering from lichen amyloidosis successfully treated with fractional ablative laser CO2. He was a 59-year-old man diagnosed lichen amyloidosis localized on the legs 10 years ago. He was treated with topical corticosteroids without any improvement. Then, we started treating the affected area with CO2 laser (limmer*) at a setting of 5-8 J/cm2 and 8 mm laser spot size...
February 5, 2018: Journal of Cosmetic and Laser Therapy: Official Publication of the European Society for Laser Dermatology
https://www.readbyqxmd.com/read/29336782/loss-of-gpnmb-causes-autosomal-recessive-amyloidosis-cutis-dyschromica-in-humans
#4
Chi-Fan Yang, Shuan-Pei Lin, Chien-Ping Chiang, Yu-Hung Wu, Weng Siong H'ng, Chun-Ping Chang, Yuan-Tsong Chen, Jer-Yuarn Wu
Amyloidosis cutis dyschromica (ACD) is a distinct form of primary cutaneous amyloidosis characterized by generalized hyperpigmentation mottled with small hypopigmented macules on the trunks and limbs. Affected families and sporadic case subjects have been reported predominantly in East and Southeast Asian ethnicities; however, the genetic cause has not been elucidated. We report here that the compound heterozygosity or homozygosity of GPNMB truncating alleles is the cause of autosomal-recessive ACD. Six nonsense or frameshift mutations were identified in nine individuals diagnosed with ACD...
January 9, 2018: American Journal of Human Genetics
https://www.readbyqxmd.com/read/29184811/dermatologic-manifestations-of-endocrine-disorders
#5
REVIEW
Michael Lause, Alisha Kamboj, Esteban Fernandez Faith
The skin serves as a window for clinicians to understand, diagnose, and monitor endocrine disease. Dermatologic manifestations of endocrinopathies contribute significantly to an individual's health and quality of life. In this review, we outline various disorders of the hypothalamic-pituitary axis, thyroid gland, pancreas, adrenal gland, and androgen axis as well as hereditary endocrine syndromes. In acromegaly, glycosaminoglycan deposition contributes to a thickening of skin and soft tissue, which manifests as coarsening and enlargement of facial and acral structures...
October 2017: Translational pediatrics
https://www.readbyqxmd.com/read/29174954/cell-milieu-significantly-affects-the-fate-of-aapoai-amyloidogenic-variants-predestination-or-serendipity
#6
Rosa Gaglione, Giovanni Smaldone, Rocco Di Girolamo, Renata Piccoli, Emilia Pedone, Angela Arciello
BACKGROUND: Specific apolipoprotein A-I variants are associated to severe hereditary amyloidoses. The organ distribution of AApoAI amyloidosis seems to depend on the position of the mutation, since mutations in residues from 1 to 75 are mainly associated to hepatic and renal amyloidosis, while mutations in residues from 173 to 178 are mostly responsible for cardiac, laryngeal, and cutaneous amyloidosis. Molecular bases of this tissue specificity are still poorly understood, but it is increasingly emerging that protein destabilization induced by amyloidogenic mutations is neither necessary nor sufficient for amyloidosis development...
November 22, 2017: Biochimica et Biophysica Acta
https://www.readbyqxmd.com/read/29166521/case-for-diagnosis-systemic-light-chain-amyloidosis-with-cutaneous-involvement
#7
João Renato Vianna Gontijo, Jackson Machado Pinto, Maysa Carla de Paula
Systemic light chain amiloydosis is a rare disease. Due to its typical cutaneous lesions, dermatologists play an essential role in its diagnosis. Clinical manifestations vary according to the affected organ and are often unspecific. Definitive diagnosis is achieved through biopsy. We report a patient with palpebral amyloidosis, typical bilateral ecchymoses and cardiac involvement, without plasma cell dyscrasia or lymphomas. The patient died shortly after the diagnosis.
September 2017: Anais Brasileiros de Dermatologia
https://www.readbyqxmd.com/read/29146130/corrigendum-to-familial-primary-localized-cutaneous-amyloidosis-in-a-japanese-family-j-dermatol-sci-83-2016-162-164
#8
D Ueo, A Utani, Y Okubo, M Yozaki, Y Mine, T Anan, H Nishida, D Takahashi, T Sakai, Y Hatano, S Fujiwara
No abstract text is available yet for this article.
November 13, 2017: Journal of Dermatological Science
https://www.readbyqxmd.com/read/29111302/-cryopyrin-associated-periodic-syndromes
#9
P Quartier, F Rodrigues, S Georgin-Lavialle
Cryopyrin-associated periodic syndromes (CAPS) are linked to one single gene mutations, however they are associated with 3 syndromes, which are, from the mildest to the most severe phenotype familial cold urticaria, Muckle-Wells syndrome and chronic, infantile, neurologic, cutaneous, articular (CINCA) syndrome also called neonatal-onset multisystem inflammatory disease (NOMID). Autosomic dominant inheritance is present in most cases but in CINCA/NOMID syndrome where neomutations are more common. Mutations in the gene encoding cryopyrin, NLRP3, are associated with deregulation of caspase-1 activity, excessive interleukin-1 production and an autoinflammatory syndrome, which in familial cold urticaria and Muckle-Wells syndrome may be triggered or worsened by exposure to coldness...
October 27, 2017: La Revue de Médecine Interne
https://www.readbyqxmd.com/read/29049491/dermal-hyperneury-and-multiple-sclerotic-fibromas-in-multiple-endocrine-neoplasia-type-2a-syndrome
#10
Victoria Alegría-Landa, Margarita Jo-Velasco, Mercedes Robledo, Luis Requena
Importance: Multiple endocrine neoplasia type 2 (MEN 2) syndrome is an autosomal dominant, hereditary cancer disorder caused by germline mutations in the RET (formerly MEN2A, MEN2B) proto-oncogene located on chromosomal band 10q11.21. Two distinct clinical forms have been described as the following phenotypes: multiple endocrine neoplasia type 2A (MEN 2A) and multiple endocrine neoplasia type 2B (MEN 2B) syndromes. The common and necessary nexus that defines these 2 phenotypes is the presence of medullary thyroid carcinoma (MTC)...
October 18, 2017: JAMA Dermatology
https://www.readbyqxmd.com/read/28985955/paraprotein-deposits-in-the-skin
#11
REVIEW
Victoria Alegría-Landa, Lorenzo Cerroni, Heinz Kutzner, Luis Requena
Cutaneous manifestations secondary to paraprotein deposits in the skin include a group of different disorders that although rare, may be the first clinical manifestation of the underlying hematologic dyscrasia. In this article we review the clinical manifestations and histopathologic findings of the processes that result from specific deposition of the paraprotein in different structures of the skin. Paraneoplastic processes frequently associated with hematologic malignancies will not be covered in this review...
December 2017: Journal of the American Academy of Dermatology
https://www.readbyqxmd.com/read/28969251/primary-cutaneous-amyloidosis-a-clinical-histopathological-and-immunofluorescence-study
#12
Krati Mehrotra, Rupali Dewan, Jagannath V Kumar, Abhinav Dewan
INTRODUCTION: Primary Localized Cutaneous Amyloidosis (PLCA) is a relatively rare chronic condition characterized by amyloid deposition in dermis without associated deposits in internal organs. Histopathology of cutaneous amyloidosis using Haematoxylin and Eosin (H&E) stain shows eosinophilic hyaline material in papillary dermis, which can be further confirmed by Congo Red (CR) staining or Direct Immunofluorescence (DIF) Test or immunohistochemistry. AIM: To assess the concordance between the clinical, histo pathological and DIF findings in various subtypes of (PLCA)...
August 2017: Journal of Clinical and Diagnostic Research: JCDR
https://www.readbyqxmd.com/read/28935176/current-insight-in-the-localized-insulin-derived-amyloidosis-lida-clinico-pathological-characteristics-and-differential-diagnosis
#13
REVIEW
Amir Mehdi Ansari, Lais Osmani, Aerielle E Matsangos, Qing K Li
BACKGROUND: In diabetic patients, subcutaneous insulin injection may cause several types of injection site-related lesions, such as lipoatrophy, insulin-induced cutaneous lipohypertrophy (IICL), allergic reaction, and iatrogenic localized insulin-derived amyloidosis (LIDA). Among these complications, both IICL and LIDA present as tumor-like and slow growing lesions; and they may be confused with one another. The clinical implication and management of IICL and LIDA are different. LIDA causes poor blood glycemic controls due to inadequate absorption of the insulin...
October 2017: Pathology, Research and Practice
https://www.readbyqxmd.com/read/28912854/comparative-proteomics-analysis-of-primary-cutaneous-amyloidosis
#14
Daxing Cai, Yang Li, Chunlei Zhou, Yulin Jiang, Jian Jiao, Lin Wu
Primary cutaneous amyloidosis (PCA) is a localized skin disorder that is characterized by the abnormal deposition of amyloid in the extracellular matrix (ECM) of the dermis. The pathogenesis of PCA is poorly understood. The objective of the present study was to survey proteome changes in PCA lesions in order to gain insight into the molecular basis and pathogenesis of PCA. Total protein from PCA lesions and normal skin tissue samples were extracted and analyzed using the isobaric tags for relative and absolute quantitation technique...
October 2017: Experimental and Therapeutic Medicine
https://www.readbyqxmd.com/read/28902953/dystrophic-calcification-in-a-patient-with-primary-localized-cutaneous-nodular-amyloidosis-an-uncommon-ultrasound-finding
#15
Sergi Planas Ciudad, Esther Roé Crespo, Juan Francisco Mir Bonafé, Fania Zamantta Muñoz-Garza, Luis Puig Sanz
No abstract text is available yet for this article.
September 13, 2017: Acta Dermato-venereologica
https://www.readbyqxmd.com/read/28871434/cutaneous-and-mucosal-manifestations-of-sj%C3%A3-gren-s-syndrome
#16
REVIEW
Elena Generali, Antonio Costanzo, Carlo Mainetti, Carlo Selmi
Sjögren's syndrome is currently considered an "autoimmune epithelitis," as exocrine glands, especially salivary and lacrimal, are progressively destructed by an immune-mediated process associated with specific serum autoantibodies and local lymphocyte infiltrate. Xerostomia remains a key complain in patients with Sjögren's syndrome but should be evaluated also for other causes such as xerogenic medications, followed by radiation and chemotherapy for head and neck cancers, hormone disorders, infections, or other connective tissue diseases...
September 4, 2017: Clinical Reviews in Allergy & Immunology
https://www.readbyqxmd.com/read/28794559/myeloma-associated-systemic-amyloidosis-with-an-extensive-cutaneous-involvement
#17
Parul Aggarwal, Kamal Aggarwal, Sarabjit Kaur, Vijay Kumar Jain
No abstract text is available yet for this article.
July 2017: Indian Journal of Dermatology
https://www.readbyqxmd.com/read/28761861/primary-cutaneous-nodular-amyloidosis-a-rare-disease
#18
Debajyoti Chatterjee, Anshul Radotra, Sendhil M Kumaran
No abstract text is available yet for this article.
July 2017: Indian Dermatology Online Journal
https://www.readbyqxmd.com/read/28566916/multiple-interdigital-nodular-amyloidosis-of-the-toe-a-unique-presentation-of-localized-cutaneous-amyloidosis
#19
Hyun Jee Kim, Young Bok Lee, Jin-Wou Kim, Dong Soo Yu
No abstract text is available yet for this article.
June 2017: Annals of Dermatology
https://www.readbyqxmd.com/read/28560302/three-cases-of-localized-cutaneous-nodular-amyloidosis-in-patients-with-limited-systemic-sclerosis-and-a-brief-literature-review
#20
L S Goettsche, M S Moye, A J Tschetter, M S Stone, K A Wanat
Localized cutaneous nodular amyloidosis (LCNA) is the rarest form of localized cutaneous amyloidosis. In patients with LCNA, local plasma cells secrete immunoglobulin light chains called amyloid L via an unknown mechanism. LCNA has been associated with autoimmune connective tissue diseases such as most commonly Sjögren syndrome. A few reported cases of LCNA are associated with limited systemic sclerosis (LSSc). We report three cases of LCNA in patients with LSSc to add to the existing literature, discuss the disease association and proposed pathophysiology, and briefly review the existing information in current literature...
June 2017: International Journal of Women's Dermatology
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