212 results match your criteria Amyloidosis Macular


Clinicopathological Study of Primary Cutaneous Amyloidosis in a Tertiary Care Center of Eastern India Reveals Insignificant Association with Friction, Scrubbing, and Photo-Exposure: How valid is the "Keratinocyte Hypothesis"?

Indian J Dermatol 2019 Jan-Feb;64(1):28-33

Department of Dermatology, IPGMER, Kolkata, West Bengal, India.

Introduction: Primary cutaneous amyloidosis (PCA) can be classified into four principal categories: macular amyloidosis, lichen amyloidosis, biphasic, and nodular amyloidosis. Some unusual variants such as widespread diffuse hyperpigmentation without papules, poikiloderma like involvement, lesions following Blaschko's line, etc., have also been reported. Read More

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http://dx.doi.org/10.4103/ijd.IJD_149_18DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6340246PMC
February 2019
1 Read

Clinical and genetic features of Chinese patients with lichen and macular primary localized cutaneous amyloidosis.

Clin Exp Dermatol 2019 Feb 7. Epub 2019 Feb 7.

Dermatology Hospital, Southern Medical University, Guangzhou, China.

Background: Primary localized cutaneous amyloidosis (PLCA) is a chronic pruritic skin disorder. The genetic basis of familial (f)PLCA involves mutations in the oncostatin M receptor (OSMR) and interleukin-31 receptor A (IL31RA) genes, but the disease pathophysiology is not fully understood.

Aim: To investigate the OSMR mutation spectrum in patients with sporadic (s)PLCA/fPLCA, lichen/macular PLCA in mainland China. Read More

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http://doi.wiley.com/10.1111/ced.13925
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http://dx.doi.org/10.1111/ced.13925DOI Listing
February 2019
4 Reads

Nodular amyloidosis in a patient with systemic scleroderma.

Dermatol Online J 2018 Sep 15;24(9). Epub 2018 Sep 15.

Duke University Medical Center, Department of Dermatology, Durham, North Carolina.

Primary cutaneous amyloidosis may be characterized as macular amyloidosis, lichenoid amyloidosis, or nodular amyloidosis. Nodular amyloidosis results from the deposition of immunoglobulin light chains and may rarely be associated with systemic amyloidosis. We report an unusual case of a patient with systemic scleroderma who developed primary cutaneous nodular amyloidosis on the left lower leg. Read More

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September 2018
2 Reads

Primary Localized Cutaneous Amyloidosis Affecting Female Individuals of a Pakistani Pedigree.

Am J Dermatopathol 2018 Oct 9. Epub 2018 Oct 9.

Department of Dermatology, Chapel Allerton Hospital, Leeds, United Kingdom.

Primary localized cutaneous amyloidosis is a group of rare conditions where amyloid deposition is limited to the skin without systemic manifestations. Most cases are sporadic; however, mutations in the oncostatin M receptor (OSMR) and interleukin-31 receptor A (IL31RA) genes can cause a familial form of the condition in up to 10% of cases. Here, we describe a family in which 8 female individuals are affected by either macular amyloidosis or amyloidosis cutis dyschromica. Read More

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http://dx.doi.org/10.1097/DAD.0000000000001288DOI Listing
October 2018
2 Reads

Quality of life in patients with acquired pigmentation: An observational study.

J Cosmet Dermatol 2018 Dec 11;17(6):1293-1294. Epub 2018 Jul 11.

Department of Dermatology & STD, Lady Hardinge Medical College and Associated Hospital, New Delhi, India.

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https://onlinelibrary.wiley.com/doi/abs/10.1111/jocd.12686
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http://dx.doi.org/10.1111/jocd.12686DOI Listing
December 2018
8 Reads

Association of Cutaneous Amyloidosis with Neurodegenerative Amyloidosis: Correlation or Coincidence?

J Clin Aesthet Dermatol 2018 Apr 1;11(4):25-27. Epub 2018 Apr 1.

Drs. Awal and Kaur are with the Department of Dermatology, Venereology & Leprosy, Sri Guru Ram Das Institute of Medical Sciences and Research in Amritsar, India.

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. Read More

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http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5891083PMC
April 2018
2 Reads

Comparative study of fractional CO laser and fractional CO laser-assisted drug delivery of topical steroid and topical vitamin C in macular amyloidosis.

Lasers Med Sci 2018 May 26;33(4):909-916. Epub 2018 Feb 26.

Ministry of Health Hospital, Cairo, Egypt.

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 CO laser in macular amyloidosis in comparison to fractional CO 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. Read More

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http://dx.doi.org/10.1007/s10103-018-2457-1DOI Listing
May 2018
17 Reads

An unusual presentation of primary cutaneous amyloidosis.

Dermatol Online J 2017 Aug 15;23(8). Epub 2017 Aug 15.

Department of Dermatology and STD, Lady Hardinge Medical College. New Delhi, India.

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. Read More

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August 2017
15 Reads

Immunofluorescence and Immunohistochemistry in Macular Amyloidosis: An Observational Study.

Indian Dermatol Online J 2017 Nov-Dec;8(6):499-501

Department of Pathology, VMCC and Safdarjang Hospital, New Delhi, India.

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http://dx.doi.org/10.4103/idoj.IDOJ_83_17DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5707852PMC
December 2017
3 Reads

Dermal Hyperneury and Multiple Sclerotic Fibromas in Multiple Endocrine Neoplasia Type 2A Syndrome.

JAMA Dermatol 2017 12;153(12):1298-1301

Department of Dermatology, Fundación Jiménez Diaz, Universidad Autónoma, Madrid, Spain.

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. Read More

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http://dx.doi.org/10.1001/jamadermatol.2017.3959DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5817460PMC
December 2017
17 Reads

Comprehensive proteomic profiles of mouse AApoAII amyloid fibrils provide insights into the involvement of lipoproteins in the pathology of amyloidosis.

J Proteomics 2018 02 6;172:111-121. Epub 2017 Oct 6.

Department of Aging Biology, Institute of Pathogenesis and Disease Prevention, Shinshu University Graduate School of Medicine, 390-8621 Matsumoto, Japan; Department of Biological Sciences for Intractable Neurological Diseases, Institute for Biomedical Sciences, Interdisciplinary Cluster for Cutting Edge Research, Shinshu University, 390-8621 Matsumoto, Japan. Electronic address:

Amyloidosis is a disorder characterized by extracellular fibrillar deposits of misfolded proteins. The amyloid deposits commonly contain several non-fibrillar proteins as amyloid-associated proteins, but their roles in amyloidosis pathology are still unknown. In mouse senile amyloidosis, apolipoprotein A-II (ApoA-II) forms extracellular amyloid fibril (AApoAII) deposits with other proteins (AApoAII-associated proteins) in many organs. Read More

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http://dx.doi.org/10.1016/j.jprot.2017.10.003DOI Listing
February 2018
16 Reads

Primary Cutaneous Amyloidosis: A Clinical, Histopathological and Immunofluorescence Study.

J Clin Diagn Res 2017 Aug 1;11(8):WC01-WC05. Epub 2017 Aug 1.

Attending Consultant, Department of Radiotherapy, Rajiv Gandhi Cancer Institute and Research Centre, New Delhi, India.

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). Read More

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http://dx.doi.org/10.7860/JCDR/2017/24273.10334DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5620892PMC
August 2017
12 Reads

Laser treatment of medical skin disease in women.

Int J Womens Dermatol 2017 Sep 21;3(3):131-139. Epub 2017 Jul 21.

Department of Dermatology, University of Connecticut School of Medicine, Farmington, CT.

Laser treatment is a relatively new and increasingly popular modality for the treatment of many dermatologic conditions. A number of conditions that predominantly occur in women and that have a paucity of effective treatments include rosacea, connective tissue disease, melasma, nevus of Ota, lichen sclerosus (LS), notalgia paresthetica and macular amyloidosis, and syringomas. Laser therapy is an important option for the treatment of patients with these conditions. Read More

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http://dx.doi.org/10.1016/j.ijwd.2017.05.002DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5555278PMC
September 2017
33 Reads

An Unusual Case of Syringocystadenocarcinoma Papilliferum In Situ With Macular Amyloidosis.

JAMA Dermatol 2017 07;153(7):725-727

Department of Pathology, All India Institute of Medical Sciences, Jodhpur, Rajasthan, India.

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http://dx.doi.org/10.1001/jamadermatol.2017.0397DOI Listing
July 2017
7 Reads

Primary Localized Cutaneous Amyloidosis: A Systematic Treatment Review.

Am J Clin Dermatol 2017 Oct;18(5):629-642

Department of Dermatology, University Hospital Jena, Erfurter Straße 35, Jena, 07743, Germany.

Background: Primary localized cutaneous amyloidosis (PLCA) is characterized by extracellular deposition of heterogenic amyloid proteins in the skin without systemic involvement. Lichen amyloidosis, macular amyloidosis, and (primary localized cutaneous) nodular amyloidosis are different subtypes of PLCA.

Objective: The aim of this study was to review the current reported treatment options for PLCA. Read More

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http://dx.doi.org/10.1007/s40257-017-0278-9DOI Listing
October 2017
20 Reads

The Efficacy of Q-Switched ND:YAG 1064 nm Laser in Recalcitrant Macular Amyloidosis: A Case Report.

J Drugs Dermatol 2016 Nov;15(11):1456-1458

Macular amyloidosis typically presents as small, dusky-brown or greyish pigmented macules, the result of altered keratin deposition. Treatment of these hyperpigmented regions with topical and systemic therapies remains challenging, however Q-Switched neodymi- um-doped yttrium aluminum garnet (ND:YAG) laser has proven to be an effective treatment modality to reduce hyperpigmentation. In this case report we investigated the ef cacy of Q-Switched Nd:YAG laser treatment on a 34-year old woman with recalcitrant macular amyloidosis who failed to respond to over-the-counter bleaching creams. Read More

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November 2016
12 Reads

Dermoscopy in General Dermatology: A Practical Overview.

Dermatol Ther (Heidelb) 2016 Dec 9;6(4):471-507. Epub 2016 Sep 9.

Department of Experimental and Clinical Medicine, Institute of Dermatology, University of Udine, Udine, Italy.

Over the last few years, dermoscopy has been shown to be a useful tool in assisting the noninvasive diagnosis of various general dermatological disorders. In this article, we sought to provide an up-to-date practical overview on the use of dermoscopy in general dermatology by analysing the dermoscopic differential diagnosis of relatively common dermatological disorders grouped according to their clinical presentation, i.e. Read More

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http://dx.doi.org/10.1007/s13555-016-0141-6DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5120630PMC
December 2016
60 Reads

Amyloidosis in Retinal Neurodegenerative Diseases.

Front Neurol 2016 8;7:127. Epub 2016 Aug 8.

Centre de Recherche des Cordeliers, Institut national de la santé et de la recherche médicale (INSERM), Université Paris Descartes, Sorbonne Paris Cité, UMR_S 1138, Université Pierre et Marie Curie Université Paris 06, Sorbonne Universités , Paris , France.

As a part of the central nervous system, the retina may reflect both physiological processes and abnormalities related to pathologies that affect the brain. Amyloidosis due to the accumulation of amyloid-beta (Aβ) was initially regarded as a specific and exclusive characteristic of neurodegenerative alterations seen in the brain of Alzheimer's disease (AD) patients. More recently, it was discovered that amyloidosis-related alterations, similar to those seen in the brain of Alzheimer's patients, also occur in the retina. Read More

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http://dx.doi.org/10.3389/fneur.2016.00127DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4976396PMC
August 2016
29 Reads

Cutaneous sarcoidosis and macular amyloidosis occurring at the same site.

Indian J Dermatol Venereol Leprol 2016 Sep-Oct;82(5):574-6

Department of Dermatology and STD, Vardhman Mahavir Medical College and Safdarjung Hospital, New Delhi, India.

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http://dx.doi.org/10.4103/0378-6323.183627DOI Listing
April 2017
6 Reads

Treatment of primary cutaneous amyloidosis with laser: a review of the literature.

Authors:
Rand S Al Yahya

Lasers Med Sci 2016 Jul 16;31(5):1027-35. Epub 2016 Mar 16.

Department of Medicine, Division of Dermatology, College of Medicine, Prince Sattam bin Abdulaziz University, Al-Kharj, Saudi Arabia.

Primary cutaneous amyloidosis (PCA) is a condition characterized by tissue deposition of misfolded proteins. PCA can present in different forms, namely macular, lichen, and nodular amyloidosis. These lesions can be of cosmetic concern and are difficult to treat. Read More

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http://dx.doi.org/10.1007/s10103-016-1917-8DOI Listing
July 2016
15 Reads

Macular Amyloidosis and Epstein-Barr Virus.

Dermatol Res Pract 2016 14;2016:6089102. Epub 2016 Feb 14.

Pathology Department of Mashhad University of Medical Sciences, Mashhad 9176699199, Iran.

Background. Amyloidosis is extracellular precipitation of eosinophilic hyaline material of self-origin with special staining features and fibrillar ultrastructure. Macular amyloidosis is limited to the skin, and several factors have been proposed for its pathogenesis. Read More

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http://dx.doi.org/10.1155/2016/6089102DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4769766PMC
March 2016
9 Reads

Neurocutaneous disease: Neurocutaneous dysesthesias.

J Am Acad Dermatol 2016 Feb;74(2):215-28; quiz 229-30

Department of Dermatology, University of Missouri, Columbia, Missouri. Electronic address:

Dysesthesia is a generic term for a cutaneous symptom--such as pruritus, burning, tingling, stinging, anesthesia, hypoesthesia, tickling, crawling, cold sensation, or even pain--without a primary cutaneous condition in a well-defined location that is often caused by nerve trauma, impingement, or irritation. There are multiple types of dysesthesias depending on the body location and the nerves involved. While location, exact symptoms, and etiologies might vary, the underlying theme is that these conditions are of neurologic origin and have dermatologic consequences. Read More

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http://dx.doi.org/10.1016/j.jaad.2015.04.059DOI Listing
February 2016
14 Reads

Macular amyloidosis complicating macroprolactinoma--a novel clinical association.

Endokrynol Pol 2015 ;66(6):555-8

Department of Endocrinology Post Graduate Institute of Medical Education&Research (PGIMER) and Dr. Ram ManoharLohia (RML) Hospital, New Delhi 110001, India.

Amyloid deposition in the pituitary gland is a rare localised form of amyloidosis, and most commonly reported with prolactinoma. Macular amyloidosis is a rare form of localised cutaneous amyloidosis of obscure aetiology. In contrast to most localised amyloidosis, the precursor protein(s) of both macular amyloidosis and prolactinoma are unknown. Read More

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http://dx.doi.org/10.5603/EP.2015.0068DOI Listing
February 2017
8 Reads

Nodular amyloidosis derived from keratinocytes: an unusual type of primary localized cutaneous nodular amyloidosis.

Am J Dermatopathol 2015 Nov;37(11):e129-33

Departments of *Pathology, and †Orthopedics, University of Massachusetts Medical School, Worcester, MA.

Primary, localized cutaneous amyloidosis includes macular, lichen, and nodular (tumefactive) types in which the amyloid deposits are limited to the dermis without systemic involvement. The material in lichen and macular amyloidosis is derived from epidermal keratinocytes [keratinocyte-derived amyloid (AK)], whereas that in nodular amyloidosis is derived from immunoglobulin light-chains amyloid (AL). Primary, localized cutaneous nodular amyloidosis (PLCNA) is a form of primary, localized cutaneous amyloidosis that has been associated with a risk of progression to systemic amyloidosis. Read More

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http://pdfs.journals.lww.com/amjdermatopathology/2015/11000/
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http://content.wkhealth.com/linkback/openurl?sid=WKPTLP:land
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http://dx.doi.org/10.1097/DAD.0000000000000307DOI Listing
November 2015
14 Reads

β-amyloidopathy in the Pathogenesis of Age-Related Macular Degeneration in Correlation with Neurodegenerative Diseases.

Adv Exp Med Biol 2016 ;854:119-25

Department of Histology, Embryology, Cytology, Volgograd State Medical University, 49 Universitetskiy pr, app 149, 400011, Volgograd, Russia.

Involvement of new biotechnology and genetic engineering methods to the study of the aging organism allowed to select a group of neurodegenerative diseases (NDD) which have a similar mechanism of pathogenesis including pathological processes of protein aggregation and its deposition in the structures of nerve tissue. The development of eye and brain from one embryonic germ layer, community of ethiopathogenetic and morphological manifestations of age-related macular degeneration (AMD) and Alzheimer's disease (AD), a common pathway of β-amyloid precursor protein (APP) are associated with the pathological aggregation of fibrillar β-amyloid (Aβ) protein and the development of β-amyloidopathy in structural elements of the eye and the brain. The review demonstrates the keynote of AMD and AD pathogenesis is β-amyloidopathy that is a manifestation of proteinopathy leading to cytotoxicity, neurodegeneration and the development of pathological apoptosis activated by the formation of intracellular Aβ. Read More

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http://link.springer.com/content/pdf/10.1007%2F978-3-319-171
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http://link.springer.com/10.1007/978-3-319-17121-0_17
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http://dx.doi.org/10.1007/978-3-319-17121-0_17DOI Listing
April 2016
7 Reads

RET mutation p.S891A in a Chinese family with familial medullary thyroid carcinoma and associated cutaneous amyloidosis binding OSMR variant p.G513D.

Oncotarget 2015 Oct;6(32):33993-4003

Department of Oncologic and Urology Surgery, the 117th PLA Hospital, Wenzhou Medical University, Hangzhou 310004, Zhejiang Province, China.

There are no reports on the relationship between familial medullary thyroid carcinoma (FMTC) associated with cutaneous amyloidosis (CA) and RET or OSMR/IL31RA gene mutations. In this study, we investigated a Chinese family with FMTC/CA and found a recurrent RET c.2671T>G (p. Read More

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http://dx.doi.org/10.18632/oncotarget.4992DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4741820PMC
October 2015
18 Reads

[Beta-amyloidopathy as a manifestation of proteinopathy in age-related macular degeneration].

Vestn Oftalmol 2015 Mar-Apr;131(2):26-31

Volgograd State Medical University, 1 Pavshikh Bortsov Sq., Volgograd, Russian Federation, 400131.

Aim: To investigate clinical and morphological features of amyloidogenesis in age-related macular degeneration (AMD), which is thought to be associated with proteinopathy, namely beta-amyloidopathy.

Material And Methods: A total of 111 eyes with morphological signs of AMD as well as brain samples from 56 cadavers (aged at death 60 and over) were assessed with selective methods of amyloid detection.

Results: Amyloid deposits were present in 39% of eyes with dry AMD and 80% of eyes with wet AMD. Read More

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http://dx.doi.org/10.17116/oftalma2015131226-31DOI Listing
July 2015
11 Reads

Efficacy of different modes of fractional CO2 laser in the treatment of primary cutaneous amyloidosis: A randomized clinical trial.

Lasers Surg Med 2015 Jul 6;47(5):388-95. Epub 2015 May 6.

Department of Histology, Kasr Al Ainy Hospital, Cairo University, Cairo, Egypt.

Background: Primary cutaneous amyloidosis (PCA) comprises three main forms: macular, lichen, and nodular amyloidosis. The current available treatments are quite disappointing.

Objectives: Assess and compare the clinical and histological changes induced by different modes of Fractional CO2 laser in treatment of PCA. Read More

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http://doi.wiley.com/10.1002/lsm.22361
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http://dx.doi.org/10.1002/lsm.22361DOI Listing
July 2015
16 Reads
2.620 Impact Factor

Macular amyloidosis: a case report with scanning electron microscopy.

J Eur Acad Dermatol Venereol 2016 May 25;30(5):889-90. Epub 2015 Feb 25.

Laboratory of Electron Microscopy, Federal University of Pelotas, Pelotas, Brazil.

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http://dx.doi.org/10.1111/jdv.13054DOI Listing
May 2016
6 Reads

Currently Used Biologic Agents in the Management of Behcet's Syndrome.

Curr Med Chem 2015 ;22(16):1976-85

Cerrahpasa Tıp Fakultesi, Ic Hastalıklari Anabilim Dali, Romatoloji Bilim Dali, 34089, Cerrahpasa, Istanbul, Turkey.

Behcet's s yndrome (BS) is a multisystem vasculitis with frequent mucocutaneous, joint, eye and visceral organ involvement. From early 2000s, biologic drugs have been increasingly used in the management of BS, enabling rapid and complete remission in most cases with critical organ involvement. Despite the current experience with steroids and traditional immunosuppressives, biologics are exceptionally promising for treatment of resistant cases. Read More

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June 2016
13 Reads

Bullous variant of familial biphasic lichen amyloidosis: a unique combination of three rare presentations.

Indian J Dermatol 2015 Jan-Feb;60(1):105

Department of Pathology, J N Medical College, Belgaum, Karnataka, India.

A 55-year-old man presented with multiple, itchy papules and macules on the trunk and extremities. Histopathologic examination of biopsy specimens taken from three different lesions showed a subepidermal blister with amyloid deposits in the dermal papillae. No systemic disease or involvement of other organs was detected. Read More

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http://dx.doi.org/10.4103/0019-5154.147868DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4318037PMC
February 2015
4 Reads

Primary diffuse macular amyloidosis.

Dermatol Online J 2015 Dec 16;21(12). Epub 2015 Dec 16.

New York University School of Medicine.

We present a 53-year-old woman with diffuse macular amyloidosis. We discuss the clinical manifestations, pathophysiologic mechanisms, and associations of cutaneous macular amyloidosis. Read More

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December 2015
16 Reads

A familial poikiloderma-like cutaneous amyloidosis.

Indian J Dermatol 2014 Nov;59(6):633

Department of Dermatology, S. Nijlingappa Medical College, Bagalkot, Karnataka, India.

Familial poikiloderma-like cutaneous amyloidosis(FPLCA) is a rare, generalized but genetic dyschromic skin disorder characterized by amyloid deposits in dermis due to defective DNA repair secondary to sunlight damage. Clinically, it presents with diffuse brownish pigmentation with hypo-pigmented macules and many brownish scattered lichenoid papules with normal developmental milestones. The condition is autosomal dominant with incomplete penetrance. Read More

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http://dx.doi.org/10.4103/0019-5154.143581DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4248533PMC
November 2014
17 Reads

Macular and optic disc edema and retinal vascular leakage in familial amyloid polyneuropathy with a transthyretin Val30Met mutation: a case report.

J Med Case Rep 2014 Oct 4;8:327. Epub 2014 Oct 4.

Department of Ophthalmology of Central Lisbon Hospital Center, Lisbon, Portugal.

Introduction: Familial amyloid polyneuropathy is a group of autosomal dominant disorders characterized by extracellular amyloid deposition in several target organs. This paper aims to report an unusual manifestation of retinal vascular leakage including optic disc and macular edema in a patient with familial amyloid polyneuropathy.

Case Presentation: A 37-year-old Portuguese Caucasian man with Val30Met transthyretin-related familial amyloid polyneuropathy presented with rapidly progressing visual loss in his left eye. Read More

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http://dx.doi.org/10.1186/1752-1947-8-327DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4190594PMC
October 2014
14 Reads

An alternative treatment model: the combination therapy of narrow band ultraviolet B phototherapy and tacrolimus ointment 0.1% in biphasic amyloidosis.

J Pak Med Assoc 2014 May;64(5):579-82

Primary localized cutaneous amyloidosis (PLCA) is caused by the extracellular deposition of amyloid material in the skin without other cutaneous or systemic organ involvement. PCLA is classified into lichen, macular,and nodular amyloidosis. Macular amyloidosis and lichen amyloidosis are named as biphasic amyloidosis when they are concurrently seen in a patient. Read More

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May 2014
18 Reads

Pulsed dye laser for the treatment of macular amyloidosis: a case report.

Cutis 2014 Apr;93(4):189-92

617 Center St, Ludlow, MA 01056, USA.

Macular amyloidosis causes an eruption of brown pigment in the skin when keratin is altered. The resulting hyperpigmentation, which often leads to patient distress, generally has unsatisfactory treatment options. Among the treatment modalities that have been used for amyloidosis, the pulsed dye laser (PDL) has shown success in the treatment of nodular amyloidosis, and the Q-switched Nd:YAG laser has reduced the appearance of amyloid plaques in macular amyloidosis. Read More

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April 2014
8 Reads

TGFBI, CHST6, and GSN gene analysis in Mexican patients with stromal corneal dystrophies.

Graefes Arch Clin Exp Ophthalmol 2014 Aug 7;252(8):1267-72. Epub 2014 May 7.

Department of Genetics-Research Unit, Institute of Ophthalmology "Conde de Valenciana", Mexico City, Mexico.

Objectives: The purpose of our study was to describe the results of molecular screening of TGFBI, CHST6, and GSN genes in a group of Mexican patients with different stromal corneal dystrophies (CD).

Material And Methods: A total of 16 CD Mexican patients pertaining to nine different pedigrees were subjected to a complete ophthalmological investigation. A clinical diagnosis of lattice CD was performed in 10 patients from five pedigrees. Read More

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http://dx.doi.org/10.1007/s00417-014-2648-9DOI Listing
August 2014
10 Reads

Familial amyloidosis cutis dyschromica: a case report.

Acta Med Iran 2014 ;52(2):163-5

Department of Dermatology, Shahid Sadooghi University of Medical Sciences, Yazd, Iran.

Amyloidosis cutis dyschromica (ACD) is a rare form of macular amyloidosis characterized by hypo and hyperpigmented macules. Here we described a 20 year old girl with diffuse hypo and hyperpigmentation since she was four years old. Five other members of her family are also involved. Read More

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November 2014
7 Reads

Diffuse pigmentation of back and arms: macular amyloidosis or other?

Acta Med Iran 2013 May 30;51(5):329-33. Epub 2013 May 30.

Department of Dermatology, Razi Hospital, Tehran University of Medical Sciences, Tehran, Iran.

The study was undertaken to answer the question that how many patients with pigmentation of back and arms actually have amyloid deposits in pathology. 44 patients presenting with diffuse pigmentation of back and arms (DPOBA) were selected. Skin biopsies were performed in all cases from the affected sites. Read More

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May 2013
6 Reads

Clinicopathological correlation of acquired hyperpigmentary disorders.

Indian J Dermatol Venereol Leprol 2013 May-Jun;79(3):367-75

Department of Dermatology, Oregon Health Sciences University, Portland, Oregon, USA.

Acquired pigmentary disorders are group of heterogenous entities that share single, most significant, clinical feature, that is, dyspigmentation. Asians and Indians, in particular, are mostly affected. Although the classic morphologies and common treatment options of these conditions have been reviewed in the global dermatology literature, the value of histpathological evaluation has not been thoroughly explored. Read More

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http://dx.doi.org/10.4103/0378-6323.110798DOI Listing
December 2013
6 Reads

Transthyretin Ala36Pro mutation in a Chinese pedigree of familial transthyretin amyloidosis with elevated vitreous and serum vascular endothelial growth factor.

Exp Eye Res 2013 May 21;110:44-9. Epub 2013 Feb 21.

Department of Ophthalmology, Peking Union Medical College Hospital, Peking Union Medical College and Chinese Academy of Medical Sciences, No. 1 Shuaifuyuan Road, Dongcheng District, Beijing 100710, China.

The familial transthyretin (TTR) amyloidosis (FTA) demonstrates variable penetrance of clinical features associated with mutations in the plasma thyroid hormone-binding protein TTR gene. The purpose of this study was to assess the ocular features, to analyze vitreous and serum vascular endothelial growth factor (VEGF) levels, and to identify the genetic defect in a Chinese family with TTR FTA. The pedigree of interest was a three-generation family with eleven members. Read More

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https://linkinghub.elsevier.com/retrieve/pii/S00144835130004
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http://dx.doi.org/10.1016/j.exer.2013.02.005DOI Listing
May 2013
6 Reads

RNAi in clinical studies.

Curr Med Chem 2013 ;20(14):1801-16

Department of Technology and Biotechnology of Drugs, Faculty of Pharmacy, Jagiellonian University Medical College, 9 Medyczna Street, 30-688 Krakow, Poland.

RNA interference (RNAi) is an efficient process of posttranscriptional gene silencing. In recent years it has been developed into a new technology in biopharmaceutical fields of science. RNAi products include short interference RNA (siRNA) but also short hairpin RNA (shRNA), bifunctional short hairpin RNA (bi-shRNA) and microRNA (miRNA). Read More

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January 2014
10 Reads

An odd case of diffuse macular amyloidosis.

G Ital Dermatol Venereol 2013 Feb;148(1):156-8

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February 2013
3 Reads

Study on epidemiology of cutaneous amyloidosis in northern India and effectiveness of dimethylsulphoxide in cutaneous amyloidosis.

Indian Dermatol Online J 2012 Sep;3(3):182-6

Department of Skin and VD, Subharti Medical College, India.

Context: Amyloidosis, which is characterized by the extracellular deposition of a proteinaceous substance, is usually associated with considerable tissue dysfunction. However, the etiology of the disease remains uncertain and the treatment disappointing.

Aim: 1. Read More

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http://dx.doi.org/10.4103/2229-5178.101814DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3505425PMC
September 2012
9 Reads

A clinico-epidemiological study of macular amyloidosis from north India.

Indian J Dermatol 2012 Jul;57(4):269-74

Behl Skin Institute and School of Dermatology, Zamrudpur, Greater Kailash-I, New Delhi, India.

Background: Macular amyloidosis (MA) is the most subtle form of cutaneous amyloidosis, characterized by brownish macules in a rippled pattern, distributed predominantly over the trunk and extremities. MA has a high incidence in Asia, Middle East, and South America. Its etiology has yet to be fully elucidated though various risk factors such as sex, race, genetic predisposition, exposure to sunlight, atopy and friction and even auto-immunity have been implicated. Read More

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http://dx.doi.org/10.4103/0019-5154.97662DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3401840PMC
July 2012
16 Reads

Primary cutaneous amyloidosis: a clinico-pathological study with emphasis on polarized microscopy.

Indian J Pathol Microbiol 2012 Apr-Jun;55(2):170-4

Department of Pathology, JSS Medical College (constituent college of JSS University), Mysore, Karnataka, India.

Background: Primary localized cutaneous amyloidosis (PCA) is a relatively rare condition characterized by amyloid deposition in dermis without systemic involvement. Although, histopathological examination of the lesion reveals amorphous eosinophilic deposits in papillary dermis examination of congo red stained slides under polarized light will give definitive diagnosis

Aims: To study the clinicopathological features of cutaneous amyloidosis emphasizing the utility of polarized light in diagnosis.

Materials And Methods: A clinicopathological study of primary cutaneous amyloidosis over a period of 8 years was undertaken. Read More

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http://dx.doi.org/10.4103/0377-4929.97853DOI Listing
October 2012
10 Reads
4 Citations
0.642 Impact Factor

Characteristic dermoscopic features of primary cutaneous amyloidosis: a study of 35 cases.

Br J Dermatol 2012 Sep;167(3):548-54

Department of Dermatology, Taipei Veterans General Hospital, Taipei, Taiwan.

Background: Primary cutaneous amyloidosis (PCA) is a relatively common skin disorder among Asians and South Americans. It is usually diagnosed clinically. However, for cases with atypical presentations, the diagnosis can be a challenge and skin biopsy may be necessary. Read More

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http://dx.doi.org/10.1111/j.1365-2133.2012.11066.xDOI Listing
September 2012
6 Reads

An unusual presentation of macular amyloidosis.

An Bras Dermatol 2011 Jul-Aug;86(4 Suppl 1):S24-7

Centro de Dermatologia Dona Libânia, Fortaleza, CE, Brasil.

Macular amyloidosis is a form of cutaneous amyloidosis characterized by dusky-brown lesions usually located on the upper back between the shoulder blades. This report describes the case of a 45 year-old female presenting with hyperpigmented macules and lace-like, non-pruritic erythema in the sacral and cervical region as well as on both arms and legs. Histology revealed amyloid deposits in the papillary dermis which exhibited apple-green birefringence after Congo red staining. Read More

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March 2012
4 Reads

Extensive fibrin accumulation and accompanying epithelial changes in the pathogenesis of ligneous mucosal disease (ligneous periodontitis).

Am J Dermatopathol 2012 Feb;34(1):35-40

Department of Pathology, Gülhane Military Medical Academy, Ankara, Turkey.

Certain abnormal products of human tissues are resistant to degradation. The fibrillary ultrastructure of some of these are seen integrated with normal tissue components. The accumulations seen in colloid milium, lichen, and macular amyloidosis are of this type. Read More

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http://content.wkhealth.com/linkback/openurl?sid=WKPTLP:land
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http://dx.doi.org/10.1097/DAD.0b013e3182169507DOI Listing
February 2012
7 Reads

Case of primary localized cutaneous amyloidosis with protean clinical manifestations: lichen, poikiloderma-like, dyschromic and bullous variants.

J Dermatol 2011 Nov 20;38(11):1066-71. Epub 2011 Sep 20.

National Skin Centre, Singapore, Singapore.

Primary localized cutaneous amyloidosis (PLCA) commonly presents as macular and lichen variants. We present a case of a 27-year-old Chinese woman with cutaneous features of the rarely reported poikiloderma-like, dyschromic and bullous forms of PLCA, and the commoner lichen variant. There were no syndromic associations or systemic involvement, and the various morphological subtypes occurred in isolation from one another. Read More

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http://dx.doi.org/10.1111/j.1346-8138.2011.01254.xDOI Listing
November 2011
31 Reads