871 results match your criteria Epidermolytic Hyperkeratosis Bullous Congenital Ichthyosiform Erythroderma


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

J Dtsch Dermatol Ges 2018 Dec 6. Epub 2018 Dec 6.

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

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December 2018
1 Read

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

Int J Gynecol Pathol 2018 Nov 21. Epub 2018 Nov 21.

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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November 2018
3 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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November 2018
1 Read

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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November 2018
3 Reads

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

Clin Exp Dermatol 2018 Oct 4. 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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October 2018
5 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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September 2018
2 Reads

Verruciform and Condyloma-like Squamous Proliferations in the Anogenital Region.

Authors:
May P Chan

Arch Pathol Lab Med 2018 Sep 11. Epub 2018 Sep 11.

From the Department of Pathology, University of Michigan Health System, Ann Arbor.

Context: - Histologic distinction between condyloma acuminatum and various benign and malignant condyloma-like lesions in the anogenital area poses a common diagnostic challenge to pathologists across subspecialties.

Objective: - To review the overlapping and distinguishing features of condyloma acuminatum and its mimics, and to clarify confusing terminology and diagnostic criteria for problematic entities.

Data Sources: - A review of the literature on condyloma acuminatum (ordinary and giant types), verrucous carcinoma, warty/warty-basaloid high-grade squamous intraepithelial lesion and squamous cell carcinoma, papillary squamous cell carcinoma, bowenoid papulosis, verruca vulgaris, epidermolytic acanthoma, and verruciform xanthoma was performed. Read More

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September 2018
5 Reads

CRISPR/Cas9-Mediated Treatment Ameliorates the Phenotype of the Epidermolytic Palmoplantar Keratoderma-like Mouse.

Mol Ther Nucleic Acids 2018 Sep 2;12:220-228. Epub 2018 Jun 2.

Department of Genetics, Research Center for Molecular Medicine, Institute of Cell Biology, Key Laboratory of Reproductive Genetics, Ministry of Education, Zhejiang University School of Medicine, Hangzhou, Zhejiang 310058, China. Electronic address:

CRISPR/Cas9 has been confirmed as a distinctly efficient, simple-to-configure, highly specific genome-editing tool that has been used to treat monogenetic disorders. Epidermolytic palmoplantar keratoderma (EPPK) is a common autosomal dominant keratin disease resulting from dominant-negative mutation of the KRT9 gene, and it has no effective therapy. We performed CRISPR/Cas9-mediated treatment on a knockin (KI) transgenic mouse model that carried a small indel heterozygous mutation of Krt9, c. Read More

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September 2018
7 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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November 2018
4 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
10 Reads

Ichthyosis molecular fingerprinting shows profound Th17-skewing and a unique barrier genomic signature.

J Allergy Clin Immunol 2018 May 24. Epub 2018 May 24.

Department of Dermatology and the Immunology Institute, Icahn School of Medicine at Mount Sinai, New York, NY, USA; Laboratory for Investigative Dermatology, The Rockefeller University, New York, NY, USA. Electronic address:

Background: Ichthyoses are a group of rare skin disorders lacking effective treatments. Although genetic mutations are progressively delineated, comprehensive molecular phenotyping of ichthyotic skin could suggest much-needed pathogenesis-based therapy.

Objective: To profile the molecular fingerprint of the most common orphan ichthyoses. Read More

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May 2018
15 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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June 2018
14 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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August 2018
4 Reads

Prevalence of Gene Mutation in 48 Breeding Golden Retriever Dogs.

Vet Sci 2018 May 8;5(2). Epub 2018 May 8.

Clinica Veterinaria San Siro, via Lampugnano 99, 20151 Milan, Italy.

A non-epidermolytic ichthyosis has been identified in Golden Retrievers due to a variant in the gene, and a genetic test is available to detect wild-type, heterozygous and homozygous dogs. The aims of this study were to investigate the prevalence of the gene variant in Golden Retrievers used for breeding and to provide more information to breeders in order to restrict the spread of this disease. Clinical examination and assessment of the genotype using PCR testing of oral swabs were performed in 48 breeding Golden Retrievers. Read More

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Identification of a Novel Keratin 9 Missense Mutation in a Chinese Family with Epidermolytic Palmoplantar Keratoderma.

Cell Physiol Biochem 2018 26;46(5):1919-1929. Epub 2018 Apr 26.

Centre for Experimental Medicine, the Third Xiangya Hospital, Central South University, Changsha, China.

Background/aims: Epidermolytic palmoplantar keratoderma (EPPK) is an autosomal dominant genodermatosis. It is characterized by diffuse yellow keratoses on the palmoplantar epidermis, with an erythematous border. The keratin 9 gene (KRT9) and less frequently the keratin 1 gene (KRT1) are responsible for EPPK. Read More

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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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[Epidermolytic palmoplantar keratoderma of Vörner].

An Pediatr (Barc) 2018 Apr 13. Epub 2018 Apr 13.

Servicio de Anatomía Patológica, Complejo Hospitalario Universitario de Ferrol, Xerencia de Xestión Integrada de Ferrol, SERGAS, Ferrol, A Coruña, España.

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April 2018
17 Reads

The Major Orphan Forms of Ichthyosis Are Characterized by Systemic T-Cell Activation and Th-17/Tc-17/Th-22/Tc-22 Polarization in Blood.

J Invest Dermatol 2018 Oct 14;138(10):2157-2167. Epub 2018 Apr 14.

Departments of Dermatology and Pediatrics, Northwestern University Feinberg School of Medicine, Illinois, USA. Electronic address:

The ichthyoses are rare skin disorders with immune and barrier aberrations. Identifying blood phenotypes may advance targeted therapeutics. We aimed to compare frequencies of skin homing/cutaneous lymphocyte antigen (+) versus systemic/cutaneous lymphocyte antigen (-) "polar" CD4/CD8 and activated T-cell subsets in ichthyosis versus atopic dermatitis, psoriasis, and control blood, with appropriate clinical correlations. Read More

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October 2018
21 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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November 2018
4 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
12 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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July 2018
2 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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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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April 2018
1 Read

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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January 2018
5 Reads

Novel KRT9 missense mutation in a Japanese case of epidermolytic palmoplantar keratoderma.

J Dermatol 2018 Apr 25;45(4):e72-e73. Epub 2017 Oct 25.

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

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April 2018
3 Reads

Mutations in the highly conserved 1A rod domain of keratin 9 responsible for epidermolytic palmoplantar keratoderma in four Chinese families.

J Dermatol 2018 Feb 17;45(2):e45-e46. Epub 2017 Oct 17.

Department of Medical Genetics, Institute of Basic Medical Sciences, Chinese Academy of Medical Sciences and School of Basic Medicine, Peking Union Medical College, Beijing, China.

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February 2018
9 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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April 2018
11 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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July 2017
21 Reads

induced rash and mucositis: a recently described entity.

BMJ Case Rep 2017 Aug 22;2017. Epub 2017 Aug 22.

Department of Dermatology and Venereology, Hospital de Braga, Braga, Portugal.

is a common cause of respiratory infections. Although most cases are mild, some patients have extrapulmonary complications including mucocutaneous eruptions including Stevens-Johnson syndrome (SJS), toxic epidermal necrolysis (TEN) and erythemamultiforme (EM). Recently, a new entity, called -induced rash and mucositis (MIRM) was described. Read More

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August 2017
11 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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February 2018
9 Reads

Glutamyl Endopeptidases: The Puzzle of Substrate Specificity.

Acta Naturae 2017 Apr-Jun;9(2):17-33

Institute of Molecular Genetics, Russian Academy of Sciences, Kurchatov Sq., 2, Moscow, 123182, Russia.

Glutamyl endopeptidases (GEPases) are chymotrypsin-like enzymes that preferentially cleave the peptide bonds of the α-carboxyl groups of glutamic acid. Despite the many years of research, the structural determinants underlying the strong substrate specificity of GEPases still remain unclear. In this review, data concerning the molecular mechanisms that determine the substrate preference of GEPases is generalized. Read More

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Dermoscopy of a solitary verrucous plaque on the back.

J Am Acad Dermatol 2017 08;77(2):e37-e39

Department of Dermatology, Jawaharlal Institute of Postgraduate Medical Education and Research, Puducherry, India. Electronic address:

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August 2017
3 Reads

Multiple Epidermolytic Acanthomas on the Scrotum: What Genital Pruritus Can Reveal.

Actas Dermosifiliogr 2018 Jan - Feb;109(1):81-82. Epub 2017 Jul 11.

Servicio Dermatología, Hospital del Mar-Parc de Salut Mar, Barcelona, España.

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September 2018

Maxillary Implant Prosthodontic Treatment Using Digital Laboratory Protocol for a Patient with Epidermolysis Bullosa: A Case History Report.

Int J Prosthodont 2017 Jul/Aug;30(4):390-393

Epidermolysis bullosa belongs to a group of genetic diseases that present with skin disorders and is characterized by generalized blister formation in response to mechanical trauma. This article reports on the management of a recessive dystrophic epidermolytic patient with four remaining periodontally compromised maxillary teeth. Treatment involved placement of four maxillary implants and use of computer-aided design/computer-assisted manufacture techniques to fabricate a fixed full-arch implant-supported prosthesis. Read More

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September 2017
10 Reads

Two highly divergent lineages of exfoliative toxin B-encoding plasmids revealed in impetigo strains of Staphylococcus aureus.

Int J Med Microbiol 2017 Sep 29;307(6):291-296. Epub 2017 May 29.

Department of Experimental Biology, Faculty of Science, Masaryk University, Kotlářská 2, 611 37 Brno, Czech Republic.

Exfoliative toxin B (ETB) encoded by some large plasmids plays a crucial role in epidermolytic diseases caused by Staphylococcus aureus. We have found as yet unknown types of etb gene-positive plasmids isolated from a set of impetigo strains implicated in outbreaks of pemphigus neonatorum in Czech maternity hospitals. Plasmids from the strains of clonal complex CC121 were related to archetypal plasmid pETB. Read More

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September 2017
29 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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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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September 2017
9 Reads

At first sight or second glance: clinical presentation of mosaic manifestations of autosomal dominant skin disorders - a case series.

J Eur Acad Dermatol Venereol 2017 Nov 10;31(11):1912-1915. Epub 2017 Apr 10.

Department of Dermatology, Venerology, and Allergology, University Medical Center, Ruprecht-Karls-University, Heidelberg, Germany.

Background: Several autosomal dominant disorders may manifest in mosaic patterns with cutaneous involvement. Genomic mosaicism results from postzygotic autosomal mutations, giving rise to clonal proliferation of two genetically distinct cell groups, which clinically present as lesions following the lines of Blaschko.

Objective: To increase the awareness of the clinical variability of mosaic manifestations in autosomal dominant skin disorders in order to avoid delayed diagnosis. Read More

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November 2017
1 Read

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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June 2017
18 Reads

The Role of Collagen IV and Cytokeratin 5/6 Immunohistochemistry in Identifying Subtypes of Hereditary Epidermolysis Bullosa.

Authors:
Ahmed Alhumidi

Appl Immunohistochem Mol Morphol 2018 Sep;26(8):586-590

Department of Pathology, College of Medicine, King Saud University, Riyadh, Saudi Arabia.

Hereditary epidermolysis bullosa (EB) constitute a genodermatosis group with variable clinical severity. Biopsies diagnosed as EB in the last 4 years were retrieved from the database of the king Khalid University Hospital and military hospital lab at Saudi Arabia. The current study was performed to examine the diagnostic usefulness of immunohistochemistry, as compared with electron microscopic examination, for subclassification of HEB. Read More

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September 2018

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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August 2016
1 Read
1.660 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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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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November 2016
20 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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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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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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October 2016
2 Reads

A novel mutation of KRT9 gene in a Chinese Han pedigree with epidermolytic palmoplantar keratoderma.

J Cosmet Dermatol 2017 Sep 10;16(3):402-406. Epub 2016 Oct 10.

Department of Dermatology, Shandong Provincial Hospital affiliated to Shandong University, Jinan, China.

Background: Mutations of keratin 9 (KRT9) gene is a hot research area of epidermolytic palmoplantar keratoderma (EPPK).

Aims: To identify the genes caused the EPPK of a Chinese family.

Patients/methods: Three cases of lesions were collected for pathological examination. Read More

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September 2017
17 Reads