611 results match your criteria Epidermolytic Hyperkeratosis Bullous Congenital Ichthyosiform Erythroderma


Annular epidermolytic ichthyosis: a case report and literature review.

An Bras Dermatol 2020 May 5. Epub 2020 May 5.

Dermatology Service, Santa Casa de Misericórdia de Porto Alegre, Universidade Federal de Ciências da Saúde de Porto Alegre, Porto Alegre, RS, Brazil. Electronic address:

Annular epidermolytic ichthyosis is a rare subtype of epidermolytic ichthyosis that is characterized by erythematous, polycyclic, and migratory scaly plaques accompanied by palmoplantar keratoderma. This report presents the case of an 8-year-old girl who developed migratory, erythematous, scaly plaques associated with palmoplantar keratoderma. The initial hypothesis was erythrokeratodermia variabilis et progressiva; however, the finding of epidermolytic hyperkeratosis in histopathological examination led to the diagnosis of annular epidermolytic ichthyosis. Read More

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http://dx.doi.org/10.1016/j.abd.2019.09.030DOI Listing

Ichthyosis: A Road Model for Skin Research.

Acta Derm Venereol 2020 Mar 25;100(7):adv00097. Epub 2020 Mar 25.

Department of Medical Sciences/Dermatology, Uppsala University, SE-751 85 Uppsala, Sweden.

The understanding of monogenetic disorders of cornification, including the group of diseases called ichthyoses, has expanded greatly in recent years. Studies of the aetiology of more than 50 types of ichthyosis have almost invariably uncovered errors in the biosynthesis of epidermal lipids or structural proteins essential for normal skin barrier function. The barrier abnormality per se may elicit epidermal inflammation, hyperproliferation and hyperkeratosis, potentially contributing to the patient's skin symptoms. Read More

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http://dx.doi.org/10.2340/00015555-3433DOI Listing

A Family with Palmar and Plantar Hyperkeratosis: A Quiz.

Acta Derm Venereol 2020 Feb 27;100(4):adv00064. Epub 2020 Feb 27.

Department of Dermatology and Allergology, Philipp University, DE-35043 Marburg, Germany.

is missing (Quiz). Read More

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http://dx.doi.org/10.2340/00015555-3419DOI Listing
February 2020

Mutations in KRT10 in epidermolytic acanthoma.

J Cutan Pathol 2020 Jun 19;47(6):524-529. Epub 2020 Feb 19.

Department of Dermatology, Yale School of Medicine, New Haven, Connecticut.

Background: Epidermolytic acanthoma (EA) is a rare acquired lesion demonstrating a characteristic histopathological pattern of epidermal degeneration referred to as epidermolytic hyperkeratosis (EHK). On histopathological analysis, EA appears nearly identical to inherited EHK-associated dermatoses such as epidermolytic ichthyosis and ichthyosis bullosa of Siemens. While it has been speculated that EA is caused by mutations in KRT10, KRT1, or KRT2 found in these inherited dermatoses, none have yet been identified. Read More

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http://dx.doi.org/10.1111/cup.13664DOI Listing
June 2020
1.560 Impact Factor

Verrucous papules on the scrotum.

JAAD Case Rep 2020 Jan 20;6(1):13-15. Epub 2019 Dec 20.

Department of Dermatology, University of Florida College of Medicine, Gainesville, Florida.

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http://dx.doi.org/10.1016/j.jdcr.2019.10.028DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6931078PMC
January 2020

Epidermolytic Hyperkeratosis: A Challenging Pathology for Clinical Correlation

Balkan Med J 2019 08 10;36(5):294-295. Epub 2019 Jul 10.

Clinic of Dermatology, Itsa Central Hospital, Fayoum, Egypt

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http://dx.doi.org/10.4274/balkanmedj.galenos.2019.2019.1.127DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6711255PMC
August 2019
3 Reads

Skin fragility caused by biallelic KRT10 mutations: an intriguing form of self-improving epidermolytic ichthyosis.

Br J Dermatol 2020 Mar 26;182(3):780-785. Epub 2019 Sep 26.

Department of Dermatology , Medical Center - University of Freiburg, Faculty of Medicine, Hauptstraße 7, 79104, Freiburg, Germany.

Autosomal recessive epidermolytic ichthyosis is a rare skin condition associated with KRT10 loss-of-function mutations. It presents with severe life-threatening clinical manifestations. Here we describe a case of autosomal recessive epidermolytic ichthyosis with an unusually mild, spontaneously improving phenotype. Read More

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http://dx.doi.org/10.1111/bjd.18325DOI Listing

Epidermolytic hyperkeratosis: clinical update.

Clin Cosmet Investig Dermatol 2019 8;12:333-344. Epub 2019 May 8.

Amity Institute of Biotechnology, Amity University Mumbai, Navi Mumbai, India.

Epidermolytic hyperkeratosis (EHK), earlier termed as bullous congenital ichthyosiform erythroderma is a skin disorder characterized as an autosomal dominant and rare disorder which has been observed to affect 1 in over 200,000 infants as a consequence of a significant mutation in the genes responsible for the keratin proteins, mostly keratin 1 and 10. The features present at birth include erythema and blistering. In adults, the hallmarks include hyperkeratosis, erosions, and blisters. Read More

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http://dx.doi.org/10.2147/CCID.S166849DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6512611PMC
May 2019
4 Reads

Uncommon Endoscopic Findings in a Tylosis Patient: A Case Report.

Case Rep Oncol 2019 May-Aug;12(2):385-390. Epub 2019 May 23.

New York Presbyterian Brooklyn Methodist Hospital, Brooklyn, New York, USA.

Palmoplantar tylosis is a focal non epidermolytic palmoplantar hyperkeratosis and is associated with a very high lifetime risk of developing squamous cell carcinoma of the esophagus (OSCC). It is generally inherited as an autosomal dominant trait with complete penetrance involving the RHBDF2 gene located on 17q25.1. Read More

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http://dx.doi.org/10.1159/000500082DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6547298PMC
May 2019
14 Reads

Hypergranulotic dyscornification: 30 cases of a striking epithelial reaction pattern.

J Cutan Pathol 2019 Oct 5;46(10):742-747. Epub 2019 Jul 5.

Department of Dermatology, Yale University School of Medicine, New Haven, Connecticut.

Background: Hypergranulotic dyscornification (HD) is a rarely reported histological reaction pattern that may be observed in solitary benign keratoses.

Objective And Methods: We retrospectively reviewed all cases described as displaying "hypergranulotic dyscornification" at our institution between January 1st 1990 to September 1st 2018. We excluded cases that on retrospective review displayed changes of epidermolytic hyperkeratosis. Read More

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http://dx.doi.org/10.1111/cup.13522DOI Listing
October 2019
25 Reads

Missense mutation Y449H of the K10 gene in a patient with severe epidermolytic ichthyosis.

Eur J Dermatol 2019 04;29(2):227-228

Department of Dermatology, Graduate School of Medicine and Pharmaceutical sciences, University of Toyama, Toyama.

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http://dx.doi.org/10.1684/ejd.2019.3519DOI Listing
April 2019
2 Reads

Solitary oral epidermolytic acanthoma: Case report of a rarely diagnosed entity.

Oral Surg Oral Med Oral Pathol Oral Radiol 2019 Dec 31;128(6):e208-e213. Epub 2019 Mar 31.

Associate Professor, Department of Diagnostic and Biological Sciences, Division of Oral and Maxillofacial Pathology, School of Dentistry, University of Minnesota, Minneapolis, MN, USA.

Epidermolytic acanthoma represents a rare localized form of epidermolytic hyperkeratosis, which resembles warty lesions and shows a strong predilection for the genital skin of males. Here, we present an oral solitary epidermolytic acanthoma affecting a 71-year-old Caucasian man. Clinically, the lesion was white, well-circumscribed, and sessile, measuring 2 mm in diameter and located on the posterior mandibular buccal gingiva. Read More

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http://dx.doi.org/10.1016/j.oooo.2019.03.016DOI Listing
December 2019
11 Reads

Gene Editing-Mediated Disruption of Epidermolytic Ichthyosis-Associated KRT10 Alleles Restores Filament Stability in Keratinocytes.

J Invest Dermatol 2019 08 15;139(8):1699-1710.e6. Epub 2019 Apr 15.

EB House Austria, Research Program for Molecular Therapy of Genodermatoses, Department of Dermatology, University Hospital of the Paracelsus Medical University Salzburg, Austria. Electronic address:

Epidermolytic ichthyosis is a skin fragility disorder caused by dominant-negative mutations in KRT1 or KRT10. No definitive restorative therapies exist that target these genetic faults. Gene editing can be used to efficiently introduce frameshift mutations to inactivate mutant genes. Read More

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http://dx.doi.org/10.1016/j.jid.2019.03.1146DOI Listing
August 2019
6 Reads

Epidermolytic Ichthyosis without Keratin 1 or 10 Mutations: A Case Report.

Saudi J Med Med Sci 2018 Jan-Apr;6(1):36-39. Epub 2017 Dec 14.

Department of Pathology, King Abdulaziz Medical City, King Saud bin Abdulaziz University for Health Sciences, Jeddah, Kingdom of Saudi Arabia.

In this paper, the authors report a case of an 11-year-old boy with epidermolytic ichthyosis who presented with multiple scattered erosions and typical hyperkeratotic plaques over the face, upper and lower extremities, the trunk, palms and soles. Family history revealed an affected older male sibling and an affected first-degree female relative. In addition, there was a positive history of generations of consanguinity in the patient's family pedigree, increasing the probability of an autosomal recessive inheritance. Read More

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http://dx.doi.org/10.4103/1658-631X.220800DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6196674PMC
December 2017
6 Reads

Solitary and multiple epidermolytic acanthoma: A demographic and clinical study of 131 cases.

J Cutan Pathol 2019 May 8;46(5):305-309. Epub 2019 Feb 8.

Department of Dermatology, Yale University School of Medicine, New Haven, CT.

Background: Epidermolytic acanthoma (EA) is a rare, benign acquired cutaneous keratosis displaying epidermolytic hyperkeratosis in more than 50% of its surface. Because of the sparsity of comprehensive studies, little is known on the patient demographics and clinical characteristics of this uncommon entity. We wish to comprehensively characterize the clinical and demographic features of EA and to differentiate it from its mimickers. Read More

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http://dx.doi.org/10.1111/cup.13422DOI Listing
May 2019
4 Reads

An interesting case of coincidental epidermolytic hyperkeratosis and erythema annulare centrifugum in the setting of latent tuberculosis in a 12-year-old female.

Int J Dermatol 2019 Nov 8;58(11):1337-1340. Epub 2019 Jan 8.

Department of Dermatology and Cutaneous Surgery, Miller School of Medicine, University of Miami, Miami, FL, USA.

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http://dx.doi.org/10.1111/ijd.14339DOI Listing
November 2019
15 Reads

Epidermolytic ichthyosis due to a de novo missense mutation c.1307T> C; p.Leu436Pro in KRT10.

J Dtsch Dermatol Ges 2019 Jan 6;17(1):82-84. Epub 2018 Dec 6.

Department of Dermatology, Carl Gustav Carus University Medical Center, Dresden Technical University, Dresden, Germany.

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http://dx.doi.org/10.1111/ddg.13720DOI Listing
January 2019
6 Reads

Multiple Epidermolytic Acanthomas: Rare Vulval Lesions Which May be Mistaken for Viral Warts.

Int J Gynecol Pathol 2020 Jan;39(1):93-96

Departments of Pathology (S.I., A.K., W.G.M.) Dermatology (S.H.), Belfast Health and Social Care Trust Belfast Skin Clinic (P.M.) Centre for Medical Education, Queen's University (J.H.), Belfast Department of Pathology, Southmead Hospital, Bristol (K.M.) Department of Pathology, Antrim Area Hospital, Antrim, UK (J.J.).

Epidermolytic acanthoma is a rare benign lesion that most often presents as a solitary or multiple small papular lesions on the trunk, face, limbs or external male genitalia. Only a small number of cases have been reported occurring on the vulva and clinically and histologically they may mimic and be misdiagnosed as viral warts. We report 2 cases of multiple epidermolytic acanthomas localized to the vulva. Read More

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http://dx.doi.org/10.1097/PGP.0000000000000570DOI Listing
January 2020
55 Reads

Late-Onset Nevus Comedonicus With Follicular Epidermolytic Hyperkeratosis-Case Report and Review of the Literature.

Am J Dermatopathol 2019 Jun;41(6):453-455

Section of Dermatology, Department of Medical Science and Public Health, University of Cagliari, Cagliari, Italy.

Nevus comedonicus is a rare cutaneous follicular hamartoma, characterized by the clustering of papules with firm, blackened horny buffers. It is usually present at birth or during childhood, although few cases of late-onset disease have been described. We present a case of postmenopausal-onset nevus comedonicus in a 55-year-old white woman without relevant medical history. Read More

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http://dx.doi.org/10.1097/DAD.0000000000001317DOI Listing
June 2019
17 Reads

Sensor-Based Detection of the Severity of Hyperkeratosis in the Teats of Dairy Cows.

Sensors (Basel) 2018 Nov 14;18(11). Epub 2018 Nov 14.

Hochschule Neubrandenburg, Department of Agricultural Machinery, University of Applied Science, Brodaer Straße 2, 17033 Neubrandenburg, Germany.

The aim of this study was to evaluate whether the severity of hyperkeratosis (HK) in the teats of dairy cows can be assessed by a dielectric measurement. The study focused on surveying the occurrence of hyperkeratosis in a total of 241 teats of lactating dairy cows. A scoring system consisting of four categories was used to macroscopically assess the severity of HK. Read More

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http://www.mdpi.com/1424-8220/18/11/3925
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http://dx.doi.org/10.3390/s18113925DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6263564PMC
November 2018
11 Reads

Novel and recurrent mutations in keratin 1 cause epidermolytic ichthyosis and palmoplantar keratoderma.

Clin Exp Dermatol 2019 Jul 4;44(5):528-534. Epub 2018 Oct 4.

Alan Lyell Centre for Dermatology, Queen Elizabeth University Hospital, Glasgow, UK.

Mutations in keratin genes underlie a variety of epidermal and nonepidermal cell-fragility disorders, and are the genetic basis of many inherited palmoplantar keratodermas (PPKs). Epidermolytic PPK (EPPK) is an autosomal dominant disorder that can be due to mutations in the keratin 1 gene, KRT1. Epidermolytic ichthyosis (EI), the major keratinopathic ichthyosis, is characterized by congenital erythroderma, blistering and erosions of the skin. Read More

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http://dx.doi.org/10.1111/ced.13800DOI Listing
July 2019
17 Reads

Appearance of Verruca Over Linear Verrucous Epidermal Nevus - An Example of Locus Minoris Resistentiae: A Report of Three Cases.

Indian Dermatol Online J 2018 Sep-Oct;9(5):334-337

Department of Pathology, JSS Medical College and Hospital, JSS University, Mysuru, Karnataka, India.

Locus minoris resistentiae (LMR) is a site of the body that offers lesser resistance than the rest of the body to the onset of disease. It can be congenital or acquired. Areas of cutaneous mosaicism such as epidermal nevi can act as congenital LMR, leading to the development of inflammatory skin conditions or skin tumors on these. Read More

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http://dx.doi.org/10.4103/idoj.IDOJ_337_17DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6137671PMC
September 2018
8 Reads

A p.478I>T KRT1 mutation in a case of annular epidermolytic ichthyosis.

Pediatr Dermatol 2018 Nov 28;35(6):e414-e415. Epub 2018 Aug 28.

Department of Dermatology, Yale University School of Medicine, New Haven, Connecticut.

Annular epidermolytic ichthyosis (AEI; Online Mendelian Inheritance in Man [OMIM]# 607602) is a rare subtype of epidermolytic ichthyosis that is characterized by polycyclic, migratory erythematous and scaly plaques. It typically results from dominant mutations in the keratin 1 or keratin 10 genes. We present the case of a 5-year-old girl who developed intermittent eruptions of pink, round, scaly, migratory plaques with palmoplantar keratoderma and was originally diagnosed with erythrokeratodermia variabilis et progressiva (EKVP). Read More

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http://dx.doi.org/10.1111/pde.13643DOI Listing
November 2018
11 Reads
1.520 Impact Factor

Considerations for Systemic and Topical Treatment of Morganella morganii Septicemia Arising from Maggot Infestation.

Wounds 2018 Jun;30(6):E60-E64

West Virginia University School of Medicine, Morgantown, WV.

Introduction: Live maggot infestation (myiasis) of wounds can present a host of ailments. Loosely associated with maggot excreta, Morganella morganii is a widespread, gram-negative rod bacterium commonly found in the intestinal tracts of humans. M morganii has been observed as being pathogenic, particularly in nosocomial and postoperative environments, as well as in immunosuppressed and elderly populations. Read More

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June 2018
18 Reads

Cover Image: Neuroendocrine treatment of inherited keratin disorders by cannabinoids?

Br J Dermatol 2018 06;178(6):1469

Centre for Dermatology Research, The University of Manchester, and National Institute for Health Research Manchester Biomedical Research Centre, Manchester, U.K.

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http://dx.doi.org/10.1111/bjd.16570DOI Listing
June 2018
1 Read

[Analysis of a neonate with bullous congenital ichthyosiform erythroderma with next generation sequencing].

Zhonghua Yi Xue Yi Chuan Xue Za Zhi 2018 Jun;35(3):434-436

Institute of Pediatric Research, Qilu Children's Hospital of Shandong University, Jinan, Shandong 250022, China.

Objective: To explore the genetic cause and clinical features of a neonate with bullous congenital ichthyosiform erythroderma.

Methods: The patient was examined thoroughly. Following the extraction of genomic DNA, next generation sequencing was performed to analyze the genetic cause. Read More

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http://dx.doi.org/10.3760/cma.j.issn.1003-9406.2018.03.029DOI Listing
June 2018
23 Reads

Clinico-Pathological Study of 4 Cases of Pseudoherpetic Grover Disease: The Same as Vesicular Grover Disease.

Am J Dermatopathol 2018 Jun;40(6):445-448

Departments of Dermatology, and.

Introduction: Grover disease (GD) was described with 4 histopathological patterns, but later wide histopathological studies found additional ones including vesicular GD. From 2014, 2 new patterns, GD with epidermolytic hyperkeratosis and pseudoherpetic GD, have been proposed.

Objectives: The authors present 4 cases of pseudoherpetic GD and review the 6 previously published cases to better characterize this variant clinically and histopathologically. Read More

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http://dx.doi.org/10.1097/DAD.0000000000001058DOI Listing
June 2018
66 Reads

Long-term safety and efficacy of continuous acitretin monotherapy for three children with different severe hyperkeratotic disorders in China.

J Dermatol 2018 Aug 14;45(8):1003-1008. Epub 2018 May 14.

Institute of Dermatology, Guangzhou Medical University, Guangzhou, China.

Long-term systemic treatment with acitretin for severe hyperkeratotic disorders is needed to maintain quality of life of afflicted patients, but treatment has been limited owing to its potential side-effects including skeletal malformations, particularly for children during their growth and development. A retrospective investigation was conducted with three children afflicted with a severe hyperkeratotic disorder, namely Darier's disease, bullous ichthyosiform erythroderma or lamellar ichthyosis, who were continuously maintained on 0.2-0. Read More

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http://dx.doi.org/10.1111/1346-8138.14462DOI Listing
August 2018
32 Reads

Role of the keratin 1 and keratin 10 tails in the pathogenesis of ichthyosis hystrix of Curth Macklin.

PLoS One 2018 24;13(4):e0195792. Epub 2018 Apr 24.

Department of Experimental Medicine and Biochemical Sciences, University of Rome "Tor Vergata", Rome, Italy.

Ichthyosis Hystrix of Curth-Macklin (IH-CM) is a rare manifestation of epidermolytic ichthyosis (EI) that is characterised by generalised spiky or verrucous hyperkeratosis. The disorder is further distinguished by the presence of binucleated cells in the affected skin, whereas epidermolysis and clumping of tonofilaments, as seen in EI, are absent. While IH-CM is associated with mutations in the keratin 1 (KRT1) gene, reports to date have indicated that mutations in the KRT1 gene result in an aberrant and truncated protein tail, essentially affecting the function of the V2 domain. Read More

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http://journals.plos.org/plosone/article?id=10.1371/journal.pone.0195792PLOS
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5918167PMC
July 2018
8 Reads

Extramammary Paget disease with histologic presence of epidermolytic hyperkeratosis: An unusual presentation.

Indian J Dermatol Venereol Leprol 2018 May-Jun;84(3):341-344

Department of Dermatopathology, Skin Disease Hospital, Shanghai, Tongji University School of Medicine, Shanghai, China.

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http://dx.doi.org/10.4103/ijdvl.IJDVL_525_17DOI Listing
November 2018
10 Reads

A novel association of pseudoainhum and epidermolytic ichthyosis, successfully treated with full thickness skin graft after failed z-plasty repair.

Dermatol Online J 2018 Jan 15;24(1). Epub 2018 Jan 15.

5New York University School of Medicine, Department of Internal Medicine, New York. daren.

Pseudoainhum is a rare constriction band variant thatmay progress to spontaneous digital strangulationand auto-amputation. Although its association withpalmoplantar keratodermas is well established, ithas not been reported in conjunction with classicepidermolytic ichthyosis. We describe the first suchcase in a 25-year-old woman who presented witha painful constricting band of the fifth toe. Read More

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January 2018
27 Reads

Asymptomatic hyperkeratotic plaque on the vulva of a patient with lichen sclerosus.

Clin Exp Dermatol 2018 Jul 9;43(5):620-622. Epub 2018 Feb 9.

Department of Dermatology, Hospital Universitari Sagrat Cor, Barcelona, Spain.

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http://dx.doi.org/10.1111/ced.13395DOI Listing
July 2018
12 Reads

A novel Y160C mutation of Keratin 10 gene in a Chinese male infant with epidermolytic hyperkeratosis.

Turk J Pediatr 2018 ;60(4):426-428

Departments of Dermatology, The Second Xiangya Hospital of Central South University, Changsha, 410011, China.

Zhao C, Li Y, Shi G, Shi X, Zhang G. A novel Y160C mutation of Keratin 10 gene in a Chinese male infant with epidermolytic hyperkeratosis. Turk J Pediatr 2018; 60: 426-428. Read More

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http://dx.doi.org/10.24953/turkjped.2018.04.011DOI Listing
May 2019
5 Reads

Recessive epidermolytic ichthyosis results from loss of keratin 10 expression, regardless of the mutation location.

Clin Exp Dermatol 2018 Mar 26;43(2):187-190. Epub 2017 Dec 26.

Department of Dermatology, Tel-Aviv Sourasky Medical Center, Tel-Aviv, Israel.

Epidermolytic ichthyosis (EI) is a rare skin disorder caused by mutations in the genes KRT1 and KRT10, and is usually inherited in an autosomal dominant fashion. Only five recessive mutations causing EI have been described, all of which are located in the central region of the KRT10 gene. In the current study, we aimed to identify the genetic defect underlying EI in a 12-year-old patient. Read More

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http://dx.doi.org/10.1111/ced.13324DOI Listing
March 2018
5 Reads

Congenital unilateral reticulate keratotic papules on the lower extremity.

Int J Dermatol 2018 Apr 22;57(4):399-400. Epub 2017 Nov 22.

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

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http://dx.doi.org/10.1111/ijd.13802DOI Listing
April 2018
8 Reads

Multiple epidermolytic acanthomas mimicking condyloma: a retrospective study of 8 cases.

Int J Dermatol 2018 Jan 31;57(1):28-33. Epub 2017 Oct 31.

Department of Dermatology, Mackay Memorial Hospital, Taipei, Taiwan.

Background: Epidermolytic acanthoma (EA) is an uncommon benign cutaneous lesion. Multiple epidermolytic acanthomas (multiple EAs) are rarely reported.

Methods: We retrospectively identified patients diagnosed with multiple EAs between 2005 and 2017 from our dermatopathology database and analyzed their clinical, pathological, and immunohistochemical features. Read More

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http://dx.doi.org/10.1111/ijd.13818DOI Listing
January 2018
15 Reads

Alternating histopathologic pattern in blaschkoid dermatoses with epidermal changes: A retrospective series of 61 cases.

J Am Acad Dermatol 2018 04 7;78(4):812-813. Epub 2017 Oct 7.

Department of Dermatology and Venereology, All India Institute of Medical Sciences, New Delhi, India. Electronic address:

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https://linkinghub.elsevier.com/retrieve/pii/S01909622173247
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http://dx.doi.org/10.1016/j.jaad.2017.09.069DOI Listing
April 2018
24 Reads

Epidermolytic Acanthoma on Fingers, Mimicking Flat Warts.

Case Rep Dermatol 2017 May-Aug;9(2):98-101. Epub 2017 Jul 14.

Division of Dermatology, Department of Medicine, Faculty of Medicine Ramathibodi Hospital, Mahidol University, Bangkok, Thailand.

Epidermolytic acanthoma (EA) is a benign cutaneous condition. It is characterized by warty or flat-topped, keratotic papules that show epidermolytic hyperkeratosis in histology. EA has been described to occur in various locations, namely the trunk, face, and genitoscrotal area. Read More

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https://www.karger.com/Article/FullText/478890
Publisher Site
http://dx.doi.org/10.1159/000478890DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5567085PMC
July 2017
35 Reads

Inherited Nonsyndromic Ichthyoses: An Update on Pathophysiology, Diagnosis and Treatment.

Am J Clin Dermatol 2018 Feb;19(1):51-66

Department of Medical Sciences, Dermatology, Uppsala University, Uppsala, Sweden.

Hereditary ichthyoses are due to mutations on one or both alleles of more than 30 different genes, mainly expressed in the upper epidermis. Syndromic as well as nonsyndromic forms of ichthyosis exist. Irrespective of etiology, virtually all types of ichthyosis exhibit a defective epidermal barrier that constitutes the driving force for hyperkeratosis, skin scaling, and inflammation. Read More

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http://dx.doi.org/10.1007/s40257-017-0313-xDOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5797567PMC
February 2018
14 Reads

A clinical variant of a rare hyperkeratotic disease.

Clin Exp Dermatol 2017 Aug 22;42(6):690-692. Epub 2017 May 22.

Department of Dermatology, SUNY Downstate Medical Center, Brooklyn, NY, USA.

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http://doi.wiley.com/10.1111/ced.13120
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http://dx.doi.org/10.1111/ced.13120DOI Listing
August 2017
10 Reads

A Child with Epidermolytic Ichthyosis from a Parent with Epidermolytic Nevus: Risk Evaluation of Transmission from Mosaic to Germline.

J Invest Dermatol 2017 09 19;137(9):2024-2026. Epub 2017 May 19.

Department of Dermatology, Nagoya University Graduate School of Medicine, Showa-ku, Nagoya, Japan. Electronic address:

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http://dx.doi.org/10.1016/j.jid.2017.04.036DOI Listing
September 2017
28 Reads

Epidermolytic Ichthyosis Sine Epidermolysis.

Am J Dermatopathol 2017 Jun;39(6):440-444

*Department of Dermatology, Tel Aviv Sourasky Medical Center, Tel Aviv, Israel; †Department of Human Molecular Genetics & Biochemistry, Sackler Faculty of Medicine, Tel Aviv University, Tel Aviv, Israel; ‡Department of Dermatology, Kirov State Medical Academy, Kirov, Russia; §Department of Pathology, Tel Aviv Sourasky Medical Center, Tel Aviv, Israel; ¶Department of Cell and Developmental Biology, Sackler Faculty of Medicine, Tel Aviv University, Tel Aviv, Israel; ‖INSERM UMR 1163, Imagine Institute, University Paris Descartes Sorbonne Cité, Paris, France; **Department of Genetics, Necker hospital for sick children, APHP, Paris, France; ††Department of Dermatology and Allergology, Ludwig-Maximilian-University, Munich, Germany; and Departments of ‡‡Pathology, §§Dermatology, and ¶¶Department of Pediatrics, Northwestern University Feinberg School of Medicine, Chicago, IL.

Epidermolytic ichthyosis (EI) is a rare disorder of cornification caused by mutations in KRT1 and KRT10, encoding two suprabasal epidermal keratins. Because of the variable clinical features and severity of the disease, histopathology is often required to correctly direct the molecular analysis. EI is characterized by hyperkeratosis and vacuolar degeneration of the upper epidermis, also known as epidermolytic hyperkeratosis, hence the name of the disease. Read More

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http://dx.doi.org/10.1097/DAD.0000000000000674DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5489912PMC
June 2017
65 Reads

Chronic Mucocutaneous Candidiasis.

J Allergy Clin Immunol Pract 2017 Jul - Aug;5(4):1119-1121. Epub 2017 Jan 5.

Pediatric Allergy Immunology Unit, Department of Pediatrics, Advanced Pediatrics Centre, Postgraduate Institute of Medical Education and Research, Chandigarh, India.

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http://dx.doi.org/10.1016/j.jaip.2016.11.025DOI Listing
June 2019
31 Reads

Giant cutaneous horns.

Indian J Med Res 2016 Aug;144(2):300-301

Department of Dermatology, Venereology and Leprosy, Institute of Post Graduate Medical Education & Research (IPGME&R) & Seth Sukhlal Karnani Memorial (SSKM) Hospital, Kolkata 700 020, West Bengal, India.

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http://dx.doi.org/10.4103/0971-5916.195059DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5206886PMC
August 2016
6 Reads
1.661 Impact Factor

Concomitant extraspinal hyperostosis and osteoporosis in a patient with congenital ichthyosis.

Clin Cases Miner Bone Metab 2016 May-Aug;13(2):157-159. Epub 2016 Oct 5.

The Royal Melbourne Hospital, The University of Melbourne, Parkville, VIC, Australia.

Ichthyosiform dermatosis is a term referred to a group of disorders that have as their basis a disorder of keratinization (1). These conditions which are present at birth result in a generalized dry, scaly skin without any inflammation. There are several types of ichthyosis based on their clinical presentation and mode of inheritance. Read More

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http://dx.doi.org/10.11138/ccmbm/2016.13.2.157DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5119717PMC
October 2016
30 Reads

Six generations of epidermolytic palmoplantar keratoderma, associated with a KRT9 R163W mutation.

Cancer Genet 2016 Nov 29;209(11):515-524. Epub 2016 Oct 29.

People's Hospital of Xinjiang Uygur Autonomous Region, China.

Epidermolytic palmoplantar keratoderma (EPPK) is a rare autosomal dominant skin disorder characterized by diffuse hyperkeratosis on the palms and soles. Whole-exome sequencing (WES) has become a powerful tool for the detection of rare causal variants of Mendelian disorders. However, no causal gene for EPPK in the Uygur population has been identified until now, and no treatment exists than can address the underlying pathology. Read More

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http://dx.doi.org/10.1016/j.cancergen.2016.10.002DOI Listing
November 2016
56 Reads