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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

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

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

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

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.

J Dermatol 2019 Dec 9;46(12):e480-e482. Epub 2019 Sep 9.

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

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

Clinic of Dermatology, Itsa Central Hospital, Fayoum, Egypt

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

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

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

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

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

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

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

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

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

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

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.

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.

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

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

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

JAAD Case Rep 2018 Nov 2;4(10):993-995. Epub 2018 Nov 2.

Department of Dermatology, Getulio Vargas University Hospital, Amazonas, Brazil.

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

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

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

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

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.

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

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

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

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

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.

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

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

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

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

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

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.

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

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:

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

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

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

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

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:

Am J Med Genet A 2017 May 21;173(5):1440-1443. Epub 2017 Mar 21.

Institute of Medical Genetics, University of Zurich, Schlieren-Zurich, Switzerland.

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

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.

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.

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

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