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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

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.

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

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.

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

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.

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

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

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

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

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

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.

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.

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

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

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

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

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.

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

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

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

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

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

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.

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

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

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

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

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

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.

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

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.

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

An Bras Dermatol 2015 Nov-Dec;90(6):888-91

Hospital Heliopólis, São Paulo, SP, Brazil.

Epidermolytic hipercetarose is a rare genodermatosis, with a prevalence of 1:100.000 to 1:300.000, with autosomal dominant inheritance. Read More

Acta Derm Venereol 2016 May;96(4):473-8

Institute of Human Genetics, , University Medical Center Freiburg,, Freiburg, Germany.

Twenty-six families with keratinopathic ichthyoses (epidermolytic ichthyosis, superficial epidermolytic ichthyosis or congenital reticular ichthyosiform erythroderma) were studied. Epidermolytic ichthyosis is caused by mutations in the genes KRT1 or KRT10, mutations in the gene KRT2 lead to superficial epidermolytic ichthyosis, and congenital reticular ichthyosiform erythroderma is caused by frameshift mutations in the genes KRT10 or KRT1, which lead to the phenomenon of revertant mosaicism. In this study mutations were found in KRT1, KRT2 and KRT10, including 8 mutations that are novel pathogenic variants. Read More