591 results match your criteria Epidermolytic Hyperkeratosis Bullous Congenital Ichthyosiform Erythroderma


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
1 Read

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

J Cutan Pathol 2019 Jan 20. Epub 2019 Jan 20.

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
January 2019
1 Read

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 Jan 8. 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
January 2019
6 Reads

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

Am J Dermatopathol 2018 Nov 15. Epub 2018 Nov 15.

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
November 2018
11 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
7 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
4 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
6 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
11 Reads

[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
6 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
32 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
9 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

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
5 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
13 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
5 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
January 2018

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
2 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
3 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
5 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
15 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
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http://dx.doi.org/10.1159/000478890DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5567085PMC
July 2017
27 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
10 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
6 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
11 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
28 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
1 Read
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
8 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
34 Reads

[Multiple epidermolytic acanthomas of the genitalia].

Ann Dermatol Venereol 2017 Apr 24;144(4):295-300. Epub 2016 Oct 24.

Cabinet de dermatologie, 96, avenue de Saint-Ouen, 75018 Paris, France.

Background: Epidermolytic hyperkeratosis presents a particular histological image common to several clinical pictures, including that of keratinopathic ichthyoses. It may also occur fortuitously in various tumoral and inflammatory lesions. It is the elementary histopathological lesion of epidermolytic acanthoma, which may either be single or multiple, and when it occurs in the genital area, is known as epidermolytic hyperkeratosis of the genitalia or multiple epidermolytic acanthoma of the genitalia. Read More

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https://linkinghub.elsevier.com/retrieve/pii/S01519638163045
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http://dx.doi.org/10.1016/j.annder.2016.09.047DOI Listing
April 2017
7 Reads

Ichthyosis as the dermatological phenotype associated with TTC7A mutations.

Br J Dermatol 2016 Nov 31;175(5):1061-1064. Epub 2016 Aug 31.

Université Paris Descartes-Sorbonne Paris Cité, Institut Imagine, Paris, France.

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http://dx.doi.org/10.1111/bjd.14644DOI Listing
November 2016
2 Reads

S159P mutation of keratin 10 gene causes severe form of epidermolytic hyperkeratosis.

J Eur Acad Dermatol Venereol 2016 Oct 15;30(10):e102-e104. Epub 2015 Sep 15.

Department of Dermatology, Guangzhou Institute of Dermatology, Guangzhou, Guangdong Provice, China.

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http://dx.doi.org/10.1111/jdv.13345DOI Listing
October 2016
2 Reads

Extensive Post-zygotic Mosaicism of KRT1 or KRT10 Mutation Mimicking Classical Epider-molytic Ichthyosis.

Acta Derm Venereol 2017 03;97(3):387-388

Department of Dermatology, Toulouse University Hospital, Toulouse, 24 chemin de Pouvourville TSA 30030, FR-31059 Toulouse cedex 9, France.

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http://dx.doi.org/10.2340/00015555-2542DOI Listing
March 2017
11 Reads

Dry skin and blistering in childhood.

Clin Exp Dermatol 2016 Oct;41(7):828-30

Department of Dermatology, Royal Victoria Infirmary, Newcastle upon Tyne, UK.

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http://dx.doi.org/10.1111/ced.12895DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5082558PMC
October 2016
41 Reads

Infantile epidermolytic ichthyosis with prominent maternal palmoplantar keratoderma.

Dermatol Online J 2016 Apr 18;22(4). Epub 2016 Apr 18.

Scott & White Memorial Hospital and Clinic, Texas A&M University College of Medicine.

Epidermolytic Ichthyosis (EI) is a rare autosomal dominant genodermatosis. Although an inherited disorder, 50% of cases represent novel mutations. This disorder presents as a bullous disease in newborns progressing to a lifelong ichthyotic skin disorder. Read More

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April 2016
5 Reads

Superficial Epidermolytic Ichthyosis-Hypertrichosis as a Clue to Diagnosis.

Pediatr Dermatol 2016 Nov 7;33(6):e346-e348. Epub 2016 Sep 7.

Dermatology Department, Coimbra University Hospital, Coimbra, Portugal.

Superficial epidermolytic ichthyosis (SEI) is an autosomal dominant disorder caused by a mutation in the keratin 2 gene and clinically characterized by mild hyperkeratosis, superficial blisters and shedding, referred to as the moulting phenomenon. We report a case of SEI in an 18-month-old girl presenting with marked hypertrichosis. Although not invariably present, we believe that hypertrichosis can be an important clue for diagnosis. Read More

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http://dx.doi.org/10.1111/pde.12955DOI Listing
November 2016
4 Reads

Identification of a novel mutation in the LOR gene in an Iraqi patient with loricrin keratoderma resembling epidermolytic hyperkeratosis.

J Eur Acad Dermatol Venereol 2017 Mar 13;31(3):e142-e144. Epub 2016 Aug 13.

Department of Dermatology, American University of Beirut, Beirut, Lebanon.

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http://doi.wiley.com/10.1111/jdv.13882
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http://dx.doi.org/10.1111/jdv.13882DOI Listing
March 2017
3 Reads

Incidental focal epidermolytic hyperkeratosis in rosacea.

J Dermatol 2017 Jun 12;44(6):722-723. Epub 2016 Jul 12.

Department of Dermatology, Yonsei University Wonju College of Medicine, Wonju, Korea.

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http://dx.doi.org/10.1111/1346-8138.13517DOI Listing
June 2017
2 Reads

Generalized Hyperkeratotic Plaques in a Baby with a Milk Allergy.

Pediatr Dermatol 2016 Jul;33(4):457-8

Department of Dermatology, Graduate School of Biomedical Sciences, Nagasaki University, Nagasaki, Japan.

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http://dx.doi.org/10.1111/pde.12843DOI Listing
July 2016
1 Read

iRhom2 (Uncv) mutation blocks bulge stem cells assuming the fate of hair follicle.

Arch Dermatol Res 2016 Sep 8;308(7):503-10. Epub 2016 Jul 8.

Beijing Institute of Radiation Medicine, 27 Taiping Road, Haidian, Beijing, 100850, People's Republic of China.

iRhom2 is necessary for maturation of TNFα-converting enzyme, which is required for the release of tumor necrosis factor. In the previous study, we found that the iRhom2 (Uncv) mutation in N-terminal cytoplasmic domain-encoding region (iRhom2 (Uncv) ) leads to aberrant hair shaft and inner root sheath differentiation, thus results in a hairless phenotype in homozygous iRhom2 (Uncv/Uncv) BALB/c mice. In this study, we found iRhom2 mutation decreased hair matrix proliferation, however, iRhom2 (Uncv/Uncv) mice displayed hyperproliferation and hyperkeratosis in the interfollicular epidermis along with hypertrophy in the sebaceous glands. Read More

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http://dx.doi.org/10.1007/s00403-016-1663-6DOI Listing
September 2016
16 Reads
2.270 Impact Factor

A case of epidermolytic ichthyosis showing a very mild phenotype due to a novel tail extension mutation in KRT10.

J Eur Acad Dermatol Venereol 2017 Feb 26;31(2):e68-e69. Epub 2016 May 26.

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

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http://dx.doi.org/10.1111/jdv.13729DOI Listing
February 2017
2 Reads

Presentation of epidermolytic acanthomas as multiple tan papules on the vulva.

Proc (Bayl Univ Med Cent) 2016 Apr;29(2):198-9

Texas A&M Health Science Center College of Medicine, Temple, Texas (Fletcher, Ramamurthi, Parekh) and Department of Dermatology, Baylor Scott & White, Temple, Texas (Fletcher, Parekh).

Epidermolytic hyperkeratosis is a histological reaction pattern seen in a variety of disease processes, including epidermolytic ichthyosis, Vorner's epidermolytic palmoplantar keratoderma, epidermal nevus, and solitary epidermolytic acanthoma. Here we present the case of a 59-year-old woman with multiple asymptomatic papules on her vulva. Clinical differential diagnoses included condyloma acuminata, seborrheic keratoses, bowenoid papulosis, adnexal tumors, and papular acantholytic dyskeratosis. Read More

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http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4790571PMC
April 2016
9 Reads

Use of the frozen section 'jelly-roll' technique to aid in the diagnosis of bullous congenital ichthyosiform erythroderma (epidermolytic hyperkeratosis).

J Cutan Pathol 2016 May 4;43(5):434-7. Epub 2016 Apr 4.

Department of Dermatology, Wilford Hall Ambulatory Surgical Center, Lackland AFB, TX, USA.

Frozen section is a valuable tool that is often underutilized in the setting of in-patient dermatology. Traditionally, frozen section has been used in dermatology to diagnose toxic epidermal necrolysis, with some additional utility in staphylococcal scalded skin syndrome in the new born period. We report a newborn female with ruptured bullae on the face, chest, back and extremities with a clinical differential diagnosis that included staphylococcal scalded skin, bullous congenital ichthyosiform erythroderma/epidermolytic hyperkeratosis and epidermolysis bullosa. Read More

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http://dx.doi.org/10.1111/cup.12680DOI Listing
May 2016
12 Reads

Case of isolated epidermolytic acanthoma: Genetic and immunohistochemical analysis.

J Dermatol 2016 Aug 6;43(8):974-5. Epub 2016 Mar 6.

Department of Dermatology, Keio University School of Medicine, Tokyo, Japan.

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http://dx.doi.org/10.1111/1346-8138.13323DOI Listing
August 2016
4 Reads

Inherited ichthyosis: Non-syndromic forms.

J Dermatol 2016 Mar;43(3):242-51

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

Inherited ichthyoses are a group of genetic disorders characterized by generalized dry skin, scaling and hyperkeratosis, and often associated with erythroderma. These manifestations are due to mutations in genes mostly involved in skin barrier formation. Inherited ichthyoses consist of non-syndromic ichthyoses and ichthyosis syndromes. Read More

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http://dx.doi.org/10.1111/1346-8138.13243DOI Listing
March 2016
33 Reads

Linear epidermolytic ichthyosis: detection of granular degeneration with shrinking nuclei showing focal parakeratosis.

Int J Dermatol 2016 Jun 12;55(6):e366-8. Epub 2016 Feb 12.

Department of Dermatology, Kinki University Faculty of Medicine, Osaka-Sayama, Japan.

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http://dx.doi.org/10.1111/ijd.13215DOI Listing
June 2016
20 Reads

Management of Epidermolytic Ichthyosis in the Newborn.

Neonatal Netw 2016 ;35(1):19-28

Epidermolytic ichthyosis (EI) is a rare autosomal dominant genodermatosis that presents at birth as a bullous disease, followed by a lifelong ichthyotic skin disorder. Essentially, it is a defective keratinization caused by mutations of keratin 1 (KRT1) or keratin 10 (KRT10) genes, which lead to skin fragility, blistering, and eventually hyperkeratosis. Successful management of EI in the newborn period can be achieved through a thoughtful, directed, and interdisciplinary or multidisciplinary approach that encompasses family support. Read More

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http://dx.doi.org/10.1891/0730-0832.35.1.19DOI Listing
January 2017
10 Reads

Epidermolytic Acanthoma of the Genitalia Does Not Show Mutations in KRT1 or KRT10.

Am J Dermatopathol 2016 Feb;38(2):164-5

*Department of Dermatology, Rambam Health Care Campus and the Ruth and Bruce Rappaport †Faculty of Medicine, Technion-Israel Institute of Technology, Haifa, Israel ‡Department of Dermatology, Sheba Medical Center, Tel Aviv, Israel.

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http://dx.doi.org/10.1097/DAD.0000000000000359DOI Listing
February 2016
11 Reads

Linear Nevoid Epidermolytic Hyperkeratosis Localized to the Sole.

Skinmed 2015;13(5):399-401. Epub 2015 Oct 1.

Pathology, Chacha Nehru Bal Chikitsalaya (Children Hospital), Geeta Colony, Delhi 110032, India.

The term epidermolytic hyperkeratosis, used synonymously for bullous ichthyosiform erythroderma, is in fact a histopathologic reaction pattern. Clinically, it may present as a generalized, localized, or palmoplantar variant. Generalized epidermolytic hyperkeratosis is a genetic disorder, while localized epidermolytic hyperkeratosis occurs sporadically as a result of mosaicism. Read More

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October 2015
2 Reads