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cutaneous amyloidosis

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https://www.readbyqxmd.com/read/29657668/association-of-cutaneous-amyloidosis-with-neurodegenerative-amyloidosis-correlation-or-coincidence
#1
Guneet Awal, Simplepreet Kaur
Neurodegenerative disorders such as Alzheimer's disease and localized cutaneous macular amyloidosis are conditions that result from protein misfolding. These disorders share common pathogenic mechanisms that lead to the deposition of amyloid protein. Currently, there is a paucity of data on the connection between the brain and skin amyloidosis. Few recent studies have demonstrated a strong connection between the brain and skin in different amyloid diseases. Here, we report a case of concurrent occurrence of skin and brain amyloidoses and explore the brain-skin axis connection...
April 2018: Journal of Clinical and Aesthetic Dermatology
https://www.readbyqxmd.com/read/29630157/an-intensely-pruritic-pebbled-presentation
#2
Livia Francine Soriano, Conn McGrath, Mark Hawthorne, Arucha Linda Ekeowa-Anderson
Lichen amyloidosis (LA) is a form of primary localized cutaneous amyloidosis (PLCA) characterized by bilateral intensely itchy domed scaly hyperkeratotic papules. Lichen amyloidosis is rare and affects men more than women. It is uncommonly seen in the western world but more prevalent in Asia. These papules most typically affect the shins and occasionally the arms and torso. Lichen amyloidosis has been reported in association with autoimmune disorders and after prolonged exfoliation and friction of affected skin...
March 7, 2018: Dermatology Online Journal
https://www.readbyqxmd.com/read/29592980/metastatic-pheochromocytoma-in-men-2a-a-rare-association
#3
Rimesh Pal, Ashu Rastogi, Santosh Kumar, Anil Bhansali
A 45-year-old woman was diagnosed as having multiple endocrine neoplasia type 2A in 2014. She had bilateral pheochromocytoma, medullary thyroid carcinoma and biopsy-proven cutaneous lichen amyloidosis in the interscapular area. She underwent bilateral adrenalectomy; following which, she achieved clinical and biochemical remission. She was planned for total thyroidectomy at a later date; however, she was lost to follow-up. She presented to us again in December 2016 with abdominal pain. Examination revealed hypertension with postural drop...
March 28, 2018: BMJ Case Reports
https://www.readbyqxmd.com/read/29505468/bilateral-limbal-keratin-associated-amyloidosis
#4
Norman C Charles, Irina Belinsky, Habeeb Ahmad
Conjunctival amyloid is usually of the immunoglobulin light chain (AL) variety. The authors report an exceptional case of bilateral limbal amyloid deposits that were identified by mass spectrometry as keratin-related specifically regarding to basal keratinocyte keratins 5 and 14. Cytokeratin-related amyloid has been described by immunohistochemical analysis of formalin-fixed cutaneous and mucous membrane lesions but not ocular tissues. The conjunctival lesion in the right eye contained intraepithelial dyskeratotic cells that extended to the surface, causing a lacy leukoplakia on clinical examination...
May 2018: Ophthalmic Plastic and Reconstructive Surgery
https://www.readbyqxmd.com/read/29480422/comparative-study-of-fractional-co-2-laser-and-fractional-co-2-laser-assisted-drug-delivery-of-topical-steroid-and-topical-vitamin-c-in-macular-amyloidosis
#5
Rehab Mohamed Sobhi, Iman Sharaoui, Eman Ahmad El Nabarawy, Reham Shehab El Nemr Esmail, Rehab Aly Hegazy, Dina Hesham Fouad Aref
Macular amyloidosis (MA) represents a common variant of primary localized cutaneous amyloidosis. It has a characteristic female predominance; none of the treatment modalities described is either curative or uniformly effective in patients with macular amyloidosis. To determine the effect of fractional CO2 laser in macular amyloidosis in comparison to fractional CO2 laser-assisted drug delivery of topical steroids and topical vitamin C, the study includes 10 female patients with cutaneous macular amyloidosis aged between 20 and 62 years...
May 2018: Lasers in Medical Science
https://www.readbyqxmd.com/read/29469741/an-unusual-presentation-of-primary-cutaneous-amyloidosis
#6
Taru Garg, Anita Marak, Riaz Ahmed, Ram Chander, Manjula Jain
Primary localized cutaneous amyloidosis refers to a group of disorders characterized by deposition of amyloid in the dermis without any systemic involvement. It comprises the following clinical types: macular, lichenoid, nodular, and biphasic. There are also rare variants such as amyloidosis cutis dyscromica and poikiloderma-like cutaneous amyloidosis. We report a case of primary cutaneous amyloidosis in a 17-year-old boy with unusual pigmentation of various patterns (reticulate and diffuse pigmentation with mottling and rippling at places) and hypopigmented atrophic macules...
August 15, 2017: Dermatology Online Journal
https://www.readbyqxmd.com/read/29465536/primary-cutaneous-amyloidosis-associated-with-autoimmune-hepatitis-primary-biliary-cirrhosis-overlap-syndrome-and-sj%C3%A3-gren-syndrome-a-case-report
#7
Xin Yan, Jinglan Jin
RATIONALE: Primary cutaneous amyloidosis (PCA) is a localized skin disorder characterized by the abnormal deposition of amyloid in the extracellular matrix of the dermis. The association between PCA and other diseases, although rare, has been documented for various autoimmune diseases. PCA associated with autoimmune hepatitis-primary biliary cirrhosis (AIH-PBC) overlap syndrome and Sjögren syndrome (SS) has not been previously reported in the literature. PATIENT CONCERNS: A 50-year-old woman presented with progressive abnormal liver enzyme levels and was referred to our department...
February 2018: Medicine (Baltimore)
https://www.readbyqxmd.com/read/29447646/lichen-amyloidosis-of-the-scalp-and-forehead
#8
Yesul Kim, Michael D Ioffreda, Catherine G Chung
Lichen amyloidosis is a subtype of primary localized cutaneous amyloidosis (PLCA), which presents as discrete, firm, closely-set 1-3mm, dome-shapedbrown papules commonly involving the anterior aspect of shins and extensor surfaces of forearms. We present a case of an otherwise healthy man in his 30s with solitary facial involvement of lichen amyloidosis, which is very uncommon.
November 15, 2017: Dermatology Online Journal
https://www.readbyqxmd.com/read/29420094/the-clinical-spectrum-of-multiple-endocrine-neoplasia-type-2a-with-cutaneous-lichen-amyloidosis-in-ethnic-han-chinese
#9
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 7, 2018: Cancer Investigation
https://www.readbyqxmd.com/read/29419851/-identification-of-pathogenic-mutations-in-two-chinese-families-affected-with-primary-localized-cutaneous-amyloidosis
#10
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-co-2-a-new-alternative-therapeutic
#11
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
#12
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...
February 1, 2018: American Journal of Human Genetics
https://www.readbyqxmd.com/read/29184811/dermatologic-manifestations-of-endocrine-disorders
#13
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
#14
COMPARATIVE STUDY
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...
March 2018: Biochimica et Biophysica Acta
https://www.readbyqxmd.com/read/29166521/case-for-diagnosis-systemic-light-chain-amyloidosis-with-cutaneous-involvement
#15
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
#16
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.
January 2018: Journal of Dermatological Science
https://www.readbyqxmd.com/read/29111302/-cryopyrin-associated-periodic-syndromes
#17
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...
April 2018: La Revue de Médecine Interne
https://www.readbyqxmd.com/read/29049491/dermal-hyperneury-and-multiple-sclerotic-fibromas-in-multiple-endocrine-neoplasia-type-2a-syndrome
#18
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
#19
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
#20
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
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