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Cureus 2020 Apr 9;12(4):e7606. Epub 2020 Apr 9.

Dermatopathology, Molecular Dermatology Research Center, Shiraz University of Medical Sciences, Shiraz, IRN.

Background Although macular amyloidosis is a relatively rare disease, it is a common cutaneous disease in Asia and the Middle East. On hematoxylin and eosin (H&E) stained slides, early lesions could easily be missed without the use of special stains and/or immunohistochemistry. Methods We enrolled 42 patients with the clinical impression of macular amyloidosis who had undergone two 4-mm punch biopsies from 2015 to 2016 at a dermatology clinic affiliated to Shiraz University. Read More

Ophthalmic Genet 2020 May 6:1-6. Epub 2020 May 6.

Department of Ophthalmology, University of Health Sciences,Ankara Numune Training and Research Hospital, Ankara, Turkey.

Familial Mediterranean fever (FMF) is a hereditary auto-inflammatory disease with accompanying findings of amyloidosis and vasculitis. M694V is one of the most common mutations associated with amyloidosis. This study compared the macular optical coherence tomography angiography measurements in FMF patients who were genetically verified to carry the M694V mutation of the MEFV gene to those in healthy controls. Read More

Dermatol Ther 2020 Mar 11:e13305. Epub 2020 Mar 11.

Molecular Dermatology Research Center, Shiraz University of Medical Sciences, Shiraz, Iran.

Primary localized cutaneous amyloidosis (PLCA) is a recalcitrant sporadic dermatological condition and most treatments have failed so far. We studied the efficacy of topical dimethyl sulfoxide (DMSO) 50% solution in comparison with tretinoin 0.5% cream in treatment of macular amyloidosis. Read More

Dermatol Ther 2020 Feb 19:e13278. Epub 2020 Feb 19.

Molecular Dermatology Research Center, Shiraz University of Medical Sciences, Shiraz, Iran.

The aim of the present study was to investigate the clinical association between rippled pattern pigmentation and the positivity of histopathological analysis for amyloid. A total of 50 patients (90% women) with rippled pattern pigmentation referring to Dermatology Clinic of Shahid Faghihi Hospital, Shiraz, Iran, in 2015 participated in this study. Two biopsies were performed for all the cases from the most frequently affected sites. Read More

Lasers Med Sci 2020 Jan 8. Epub 2020 Jan 8.

Skin and Stem Cell Research Center, Tehran University of Medical Sciences, Tehran, Iran.

Macular amyloidosis (MA) is a common form of primary localized cutaneous amyloidosis, characterized by the eruption of brown pigments of the skin with a rippled pattern. MA can be of cosmetic concern for patients, and its treatment is challenging. In this study, we aimed to find new effective approaches for MA treatment. Read More

J Cosmet Dermatol 2020 Jun 19;19(6):1479-1480. Epub 2019 Sep 19.

Department of Dermatology, Affiliated Hospital of Nanjing University of Chinese Medicine, Nanjing, China.

A 28-year-old male presented with multiple pigmented macules on his right temple over two years. Physical examination showed multiple, discrete, brownish macules on his right temple. These lesions coalesced into reticular shape. Read More

J Dermatolog Treat 2019 Aug 29:1-4. Epub 2019 Aug 29.

Center for Dermatology Research, Department of Dermatology, Wake Forest School of Medicine , Winston-Salem , NC , USA.

A transcutaneous electrical nerve stimulation (TENS) unit is an inexpensive, accessible therapeutic device with multiple dermatology-related uses. This review aims to describe the dermatological applications of TENS. PubMed was searched for literature related to TENS in dermatology. Read More

J Dermatolog Treat 2019 Aug 25:1-3. Epub 2019 Aug 25.

Dr Radmanesh Dermatologic and Laser Center , Tehran , Iran.

No topical and systemic treatment is proven to be effective on Cutaneous Macular Amyloidosis (CMA). The physical removal of the deposited protein by lasers may be a better choice. To compare the efficacy of different lasers including Pulsed dye laser (PDL), 1064 mode of Q-Switched Nd-YAG, CO, and combined CO and Q-Switched Nd:YAG lasers for the treatment of CMA. Read More

J Dermatolog Treat 2019 Aug 29:1-5. Epub 2019 Aug 29.

Health Faculty, Mashhad University of Medical Sciences , Mashhad , Iran.

This aim of this study was to determine the effect of 1540-nm nonablative fractional erbium on macular amyloidosis. This phase-II clinical trial study has been performed with parallel group with blinding of the evaluator. The skin lesions of the patients (15 patients and 30 lesions) with cutaneous macular amyloidosis were randomly assigned into laser and no-treatment groups. Read More

BMJ Case Rep 2019 May 6;12(5). Epub 2019 May 6.

Department of Dermatology, Queen Elizabeth University Hospital, Glasgow, UK.

Nodular primary localised cutaneous amyloidosis (NPLCA) is the rarest form of cutaneous amyloidosis, with a predilection for facial and acral skin. We present a 63-year-old Caucasian with a 10-year history of an asymptomatic plaque on his left cheek, starting 2 years after being scratched by a cat in the same area. A biopsy showed nodules of eosinophilic material in the deep dermis and subcutaneous fat, with plasma cells in the dermis. Read More

Dermatol Online J 2019 Apr 15;25(4). Epub 2019 Apr 15.

Develi State Hospital, Department of Dermatology and Venereology, Kayseri.

Amyloidosis cutis dyschromica (ACD) is a rare form of primary cutaneous amyloidosis. ACD, first described by Morishima in 1970 is characterized by (i) macular, speckled, reticular hyperpigmentation with hypopigmented spots distributed extensively over the body; (ii) little or no pruritus; (iii) prepubertal onset; and (iv) focal subepidermal amyloid deposition. A 49-year-old woman presented with a 20-year history of progressive, asymptomatic, generalized mottled hyper- and hypopigmented macules all over the body. Read More

Australas J Dermatol 2019 Aug 13;60(3):e248-e249. Epub 2019 Mar 13.

Dermatology Unit, University of Campania, Naples, Italy.

SAGE Open Med Case Rep 2019 15;7:2050313X19829617. Epub 2019 Feb 15.

Division of Dermatology, University of Alberta, Edmonton, AB, Canada.

Primary cutaneous amyloidosis is characterized by polymerization of extracellular amyloid precursors in β-pleated sheet conformation into larger fibrillar aggregates. Observation in models of Alzheimer's disease have noted that amyloid polymerization in the brain is blocked by reactive oxygen species. Singlet oxygen is formed in the skin during methyl aminolevulinate photodynamic therapy. Read More

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

Clin Exp Dermatol 2019 Jun 7;44(4):e110-e117. 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

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

Am J Dermatopathol 2019 May;41(5):382-385

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

J Cosmet Dermatol 2018 12 11;17(6):1293-1294. Epub 2018 Jul 11.

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

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

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

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

Neurology 2018 01 13;90(2):e142-e148. Epub 2017 Dec 13.

From the Intramural Research Program (C.Q., J.D., Q.Z., L.J.L.), Laboratory of Epidemiology and Population Sciences, National Institute on Aging, NIH, Bethesda, MD; Aging Research Center (C.Q.), Department of Neurobiology, Care Sciences and Society, Karolinska Institutet-Stockholm University, Sweden; Icelandic Heart Association (S.S., G.E., V.G.), Kopavogur; Division of Epidemiology and Clinical Research (D.E.F., M.F.C.), National Eye Institute, NIH, Bethesda, MD; Ophthalmology and Visual Sciences (R.K.), University of Wisconsin Madison; Department of Radiology (M.A.v.B.), Leiden University Medical Centre, the Netherlands; and Faculty of Medicine (V.G.), University of Iceland, Reykjavik.

Objective: To test the hypothesis that age-related macular degeneration (AMD) and retinal microvascular signs are differentially associated with lobar and deep cerebral microbleeds (CMBs).

Methods: CMBs in lobar regions indicate cerebral amyloid angiopathy (CAA). β-Amyloid deposits are implicated in both CAA and AMD. Read More

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

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

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

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

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

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

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

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

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

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

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

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

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.

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

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

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

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

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

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

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

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

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

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.

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

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

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

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

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

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