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

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

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

JAMA Dermatol 2017 Dec;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 Feb 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 Jul;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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

J Dermatol 2011 Jun 31;38(6):546-52. Epub 2011 Jan 31.

Departments of Dermatology Medical History and Deontology Biostatistics, Gaziosmanpasa University School of Medicine, Tokat, Turkey.

Lichen simplex (LS) is characterized by circumscribed, lichenified, pruritic patches that may develop on any part of the body. Macular amyloidosis (MA) is the form of primary localized cutaneous amyloidosis. Transcutaneous electrical nerve stimulation (TENS) uses a pulsed electric current generated transcutaneously by a device to cause impulses to be carried along large-diameter afferent nerves. Read More

J Dermatol 2011 Feb 29;38(2):179-84. Epub 2010 Sep 29.

Department of Dermatology, Graduate School of Medicine, Osaka University, Osaka, Japan.

Lichen amyloidosis and macular amyloidosis are commonly therapy-resistant. Tocoretinate is a hybrid compound of retinoic acid and tocopherol that is commonly used for the treatment of skin ulcers. Although beneficial effect of oral retinoic acid on lichen amyloidosis is reported, tocoretinate has not been reported to be useful for the treatment of lichen amyloidosis or macular amyloidosis. Read More

Cornea 2011 Jun;30(6):664-9

Department of Ophthalmology and Visual Sciences, Washington University School of Medicine, St Louis, MO 63110, USA.

Purpose: To investigate the possible mutations in the carbohydrate sulfotransferase 6 (CHST6) gene of 2 unrelated cases of macular corneal dystrophy (MCD) and to report atypical stromal deposits in one of them.

Methods: Corneal tissues were stained with antisulfated keratan sulfate (KS), antitransforming growth factor beta 1-induced protein (TGFBIp), thioflavin-T, alcian blue, and Masson trichrome. Sequencing was performed to identify potential mutations in the CHST6 gene and the fourth and twelfth exons of the TGFBI gene. Read More

G Ital Dermatol Venereol 2010 Feb;145(1):135-8

Department of Dermatology, University of Catania, G. Rodolico Polyclinic, Catania, Italy.

Lichen amyloidosis is a primary localized cutaneous amyloidosis without systemic involvement, characterized by a persistent pruritic eruption of multiple discrete hyperkeratotic papules. The etiology is unknown, but chronic irritation of the skin has been proposed as an etiological factor. We herein report a typical case of lichen amyloidosis in a dark skinned patient. Read More

Br J Dermatol 2009 Dec 26;161(6):1217-24. Epub 2009 May 26.

St John's Institute of Dermatology, King's College London (Guy's Campus), London, U.K.

Macular and lichen amyloidosis are common variants of primary localized cutaneous amyloidosis (PLCA) in which clinical features of pruritus and skin scratching are associated with histological findings of deposits of amyloid staining on keratinous debris in the papillary dermis. Most cases are sporadic, but an autosomal dominant family history may be present in up to 10% of cases, consistent with a genetic predisposition in some individuals. Familial PLCA has been mapped to a locus on 5p13. Read More