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Dermatopathology (Basel) 2021 May 7;8(2):107-123. Epub 2021 May 7.

Klinik für Hautkrankheiten, Universitätsklinik Münster, 48149 Münster, Germany.

Ichthyoses are inborn keratinization disorders affecting the skin only (non-syndromic) or are associated with diseases of internal organs (syndromic). In newborns, they can be life-threatening. The identification of the gene defects resulted in reclassification and a better understanding of the pathophysiology. Read More

Ann Dermatol 2020 Dec 11;32(6):512-515. Epub 2020 Nov 11.

Department of Dermatology, Samsung Medical Center, Sungkyunkwan University School of Medicine, Seoul, Korea.

Epidermolytic acanthoma (EA) is a rare benign tumor, which usually appears as a solitary small papule. However, there are a few case reports of multiple EA, most of which occurs on the genital area. Cases of multiple EA may mimic verruca vulgaris, condyloma accuminatum, seborrheic keratosis, and bowenoid papulosis, and therefore, can be easily misdiagnosed. Read More

Dermatol Online J 2021 Feb 15;27(2). Epub 2021 Feb 15.

Department of Dermatology and Venereology, Faculty of Medicine, Public Health, and Nursing, Universitas Gadjah Mada/Dr Sardjito Hospital, Yogyakarta.

Epidermolytic ichthyosis (EI, OMIM 113800) is a rare autosomal dominant keratinization disorder that is caused by keratin 1 or 10 gene mutation. It can be classified clinically based on the presence of palmoplantar hyperkeratosis involvement and extent of skin involvement. The diagnosis is made by clinical and histopathological examinations that can be confirmed by genetic testing. Read More

Sultan Qaboos Univ Med J 2021 Feb 15;21(1):e124-e126. Epub 2021 Mar 15.

Department of Dermatology, Aga Khan University Hospital, Karachi, Pakistan.

Verrucous epidermal nevi (VEN) are benign congenital hamartomas consisting of keratinocytes. Histological examination mostly exhibits hyperkeratosis, acanthosis, papillomatosis and, rarely, the features of epidermolytic hyperkeratosis (EHK). We report a case of a 6-year-old boy who presented at Aga Khan University Hospital, Karachi, Pakistan with bilaterally symmetrical linear epidermal nevi following Blaschko's lines and showing epidermolytic hyperkeratosis on histology. Read More

BMJ Case Rep 2021 Feb 18;14(2). Epub 2021 Feb 18.

Dermatology Department, Coimbra University Hospital, Coimbra, Portugal.

Sensors (Basel) 2021 Feb 5;21(4). Epub 2021 Feb 5.

Department of Dermatology, Venereology and Dermatooncology, Semmelweis University, 1083 Budapest, Hungary.

Keratins are one of the main fluorophores of the skin. Keratinization disorders can lead to alterations in the optical properties of the skin. We set out to investigate a rare form of keratinopathic ichthyosis caused by mutation with two different optical imaging methods. Read More

Dermatol Online J 2021 Jan 15;27(1). Epub 2021 Jan 15.

Department of Dermatology, Mayo Clinic Florida, Jacksonville, FL.

Vulvar epidermolytic hyperkeratosis is a benign entity that mimics other malignant and inflammatory vulvar dermatoses clinically and histologically requiring careful clinical pathologic correlation for diagnosis. Read More

Pediatr Dermatol 2021 Mar 8;38(2):538-540. Epub 2021 Feb 8.

Division of Dermatology, Tel Aviv Sourasky Medical Center, Tel Aviv, Israel.

Superficial epidermolytic ichthyosis (formerly Ichthyosis bullosa of Siemens) is an uncommon condition caused by dominant mutations in KRT2 encoding keratin 2. Epidermolytic epidermal nevus due to somatic mutations in KRT2 is even rarer. Here, we report the third case of KRT2-associated epidermal nevus and review the literature. Read More

Clin Case Rep 2020 Dec 18;8(12):3079-3081. Epub 2020 Sep 18.

Pediatric Dermatology Unit Department of Medicine DIMED University of Padova Padova Italy.

Epidermolytic Ichthyosis is a rare genodermatosis related to point mutations affecting the genes encoding for keratin 1 or keratin 10. We report a case of Epidermolytic Ichthyosis in a newborn with a novel mutation (c.1433A>G) of KRT1 gene. Read More

Clin Case Rep 2020 Dec 20;8(12):2398-2401. Epub 2020 Jul 20.

Department of Dermatology Razi Hospital Tehran University of Medical Sciences Tehran Iran.

EN is a hamartomatous proliferation of keratinocytes. The most common dermoscopic feature of EN is large brown circles in the absence of pigment network which is similar in different histopathological variants including epidermolytic hyperkeratotic. Read More

Int J Mol Sci 2020 Nov 23;21(22). Epub 2020 Nov 23.

Department of Dermatology and Allergology, University Hospital RWTH Aachen, Pauwelsstraße 30, 52074 Aachen, Germany.

cFLIP is required for epidermal integrity and skin inflammation silencing via protection from TNF-induced keratinocyte apoptosis. Here, we generated and analyzed cFLIP epidermal KO mice with additional TNF deficiency. Intriguingly, the ablation of TNF rescued the pathological phenotype of epidermal cFLIP KO from characteristic weight loss and increased mortality. Read More

Int J Mol Sci 2020 Oct 18;21(20). Epub 2020 Oct 18.

Dermatology Unit, Bambino Gesù Children's Hospital, IRCCS, Piazza S. Onofrio, 4, 00165 Rome, Italy.

Keratinopathic ichthyoses (KI) are a clinically heterogeneous group of keratinization disorders due to mutations in , , or genes encoding keratins of suprabasal epidermis. Characteristic clinical features include superficial blisters and erosions in infancy and progressive development of hyperkeratosis. Histopathology shows epidermolytic hyperkeratosis. Read More

Cell Mol Biol (Noisy-le-grand) 2020 Sep 30;66(6):19-20. Epub 2020 Sep 30.

Department of Dermatology, Shanxi Provincial People's Hospital, Taiyuan, 030012, China.

Epidermolytic acanthoma (EA) is a rare benign tumor that is characterized by epidermolytic hyperkeratosis on histopathology. It usually presents in adulthood as an asymptomatic tumor <1 cm in diameter with a verrucous surface. We report a very uncommon case of epidermolytic acanthoma. Read More

World J Clin Cases 2020 Sep;8(18):4094-4099

Department of Colon and Rectal Surgery, Laser Surgery Care, New York, NY 10011, United States.

Background: Epidermolytic acanthoma (EA) is a rare benign skin lesion, usually found in the genital area of men and women, with epidermolytic hyperkeratosis as its distinguishing histologic characteristic. It is commonly misdiagnosed as condyloma accuminatum, verruca, and seborrheic keratosis. Since this lesion is benign, treatment is not necessary. Read More

Dermatol Online J 2020 Jul 15;26(7). Epub 2020 Jul 15.

Oasi Research Institute - IRCCS (Istituto di Ricovero e Cura a Carattere Scientifico), Troina.

We report a 6-year-old girl showing epidermolytic ichthyosis/epidermolytic hyperkeratosis (EI/EH). Targeted Next Generation Sequencing revealed a de novo, previously unidentified KRT1 mutation. The findings of this study expands the clinical and  spectrum and genotype-phenotype correlation associated with EI/EH. Read More

Mol Genet Genomic Med 2020 11 2;8(11):e1457. Epub 2020 Sep 2.

Department of Dermatology, Xinhua Hospital, Shanghai, China.

Background: Superficial epidermolytic ichthyosis (SEI), known as ichthyosis bullosa of Siemens (IBS; OMIM No. 146800) before, is a type of keratinopathic ichthyosis due to the KRT2 mutations (NM_000423.3; OMIM No. Read More

Int J Dermatol 2020 Nov 19;59(11):e422-e423. Epub 2020 Jul 19.

Dermatology, Department of Experimental, Diagnostic and Specialty Medicine, University of Bologna, Bologna, Italy.

Eur J Dermatol 2020 Jun;30(3):294-299

Department of Dermatology and Venereology, The First Affiliated Hospital, Anhui Medical University, Hefei, Anhui, China, Institute of Dermatology, Anhui Medical University, Hefei, Anhui, China, Key Laboratory of Dermatology, Anhui Medical University, Hefei, Anhui, China.

Background: Annular epidermolytic ichthyosis (AEI) is a rare autosomal dominant ichthyosis that was recently described in 10 separate families in the English literature. There are no reports on the phenotypic heterogeneity of AEI.

Objectives: We investigated, for the first time, a large Chinese AEI pedigree exhibiting interfamilial phenotypic heterogeneity. Read More

J Dermatol 2020 Sep 25;47(9):e336-e339. Epub 2020 Jun 25.

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

An Bras Dermatol 2020 Jul - Aug;95(4):484-489. 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

An Bras Dermatol 2020 Jul - Aug;95(4):477-479. Epub 2020 May 5.

Bibliometric Investigation Unit, Universidad San Ignacio de Loyola, Lima, Peru.

Lymphangioma is a rare and understudied pathology that is usually detected in the first decade of life, and its appearance in adults is rare. This report details a 51-year-old man with morbid obesity who presented, for the last eight months, multiple asymmetric tumor lesions with extension to the scrotal region. The diagnosis of circumscribed lymphangioma with associated infection was confirmed. Read More

Vet Pathol 2020 07 29;57(4):586-589. Epub 2020 Apr 29.

H. Lee Moffitt Cancer Center & Research Institute, Tampa, FL, USA.

During a previously reported program-wide outbreak, both immunocompetent depilated () mutant mice and transgenic mice that express the papillomavirus E6 oncoprotein became persistently infected with . An orthokeratotic, hyperkeratotic, acanthotic dermatitis developed in the -infected mice, which remained PCR-positive for >45 days prior to euthanasia as part of the program-wide eradication effort. Since both affected strains of mice have altered skin homeostasis, immune status or the presence of hair may not alone be sufficient to explain strain susceptibility to -related cutaneous disease. Read More

Contact Dermatitis 2020 Sep 1;83(3):196-205. Epub 2020 Jun 1.

Department of Dermatology, University Medical Center Groningen, University of Groningen, Groningen, The Netherlands.

Background: Hyperkeratotic hand eczema (HHE) is a typical clinical hand eczema subtype with a largely unknown pathophysiology.

Objective: To investigate histopathology, expression of keratins (K), epidermal barrier proteins, and adhesion molecules in HHE.

Methods: Palmar skin biopsies (lesional and perilesional) were obtained from seven HHE patients and two healthy controls. 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