653 results match your criteria Epidermolytic Hyperkeratosis Bullous Congenital Ichthyosiform Erythroderma


Diagnostic Pearls of Vulvar Epidermolytic Acanthoma: Case Report.

Ann Dermatol 2022 Jun 20;34(3):221-224. Epub 2022 May 20.

Department of Dermatology, UF Health Dermatology-Springhill, Gainesville, FL, United States.

Epidermolytic acanthomas (EA) are uncommon benign tumors clinically presenting as single to multiple papules. Histologically, EA display hyperkeratosis, hypergranulosis, acanthosis, and epidermal degeneration-also known as epidermolytic hyperkeratosis (EH). EA may be misdiagnosed as condyloma both clinically and histopathologically when located on the genitalia. Read More

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Nonsense mutations in KRT1 caused recessive epidermolytic palmoplantar keratoderma with knuckle pads.

J Eur Acad Dermatol Venereol 2022 May 1. Epub 2022 May 1.

Dermatology Hospital, Southern Medical University, Guangzhou, China.

Background: Epidermolytic palmoplantar keratoderma (EPPK) is characterized by diffuse hyperkeratosis affecting palms and soles with suprabasal epidermolysis or vacuolar degeneration histopathologically. The disorder is caused by heterozygous mutations in KRT9 or KRT1. Dominant-negative mutations in KRT1 could also result in epidermolytic ichthyosis with EPPK, a more severe entity affecting the entire body. Read More

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Nevus Comedonicus with Epidermolytic Hyperkeratosis: A Case Report.

Iran J Pathol 2022 8;17(2):234-237. Epub 2022 Mar 8.

Department of Pathology, Imam Reza Hospital, Mashhad University of Medical Sciences, Mashhad, Iran.

Nevus comedonicus (NC) is a rare developmental anomaly of the folliculosebaceous apparatus, which appears as numerous dilated papules containing firm, darkly pigmented, horny plugs. It appears shortly after birth and mostly before the age of 10; however, late-onset cases have been reported. There is no gender or racial predilection. Read More

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Non-epidermolytic palmoplantar keratoderma treated with blue LED light.

Photodermatol Photoimmunol Photomed 2022 Apr 1. Epub 2022 Apr 1.

Department of Health Sciences, University of Magna Graecia, Catanzaro, Italy.

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Annular Epidermolytic Ichthyosis Mimicking Greither Disease: A Case Report and Literature Review.

Am J Case Rep 2022 Feb 24;23:e935393. Epub 2022 Feb 24.

Department of Biological and Geographical Sciences, University of Huddersfield, Huddersfield, United Kingdom.

BACKGROUND Annular epidermolytic ichthyosis is a rare form of epidermolytic ichthyosis caused by specific pathogenic variants of KRT1 and KRT10. Classically, it manifests at birth with variable degrees of erythroderma and superficial erosions, which subsequently improve with time. Later, it is characterized by a cyclic history of annular hyperkeratotic erythematous plaques over the trunk and proximal extremities, with or without palmoplantar keratoderma. Read More

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February 2022

Bullous diseases caused by gene mutations: from epidermolytic hyperkeratosis to a novel variant of epidermolysis bullosa simplex.

Postepy Dermatol Alergol 2021 Dec 2;38(6):1032-1038. Epub 2020 Sep 2.

Department of Dermatology, Medical University of Warsaw, Warsaw, Poland.

Introduction: Mutations in the gene encoding keratin 1 cause epidermolytic hyperkeratosis characterized by blistering in the neonatal period followed by ichthyotic hyperkeratosis in childhood and adolescent life. We observed a spectrum of clinical manifestations of blistering disorders caused by different mutations in the same gene.

Aim: To analyse the phenotypic spectrum of blistering disorders caused by the mutations. Read More

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December 2021

A child with epidermolytic ichthyosis, generalized erythema, and erosions.

Pediatr Dermatol 2022 Jan;39(1):128-129

Department of Dermatology, The University of Texas Southwestern Medical Center, Dallas, Texas, USA.

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January 2022

Epidermolytic Hyperkeratosis in an Epidermoid (Infundibular) Cyst.

Am J Dermatopathol 2022 Mar;44(3):215-217

Department of Dermatology, University of Texas Southwestern Medical Center, Dallas, TX.

Abstract: Epidermolytic hyperkeratosis (EHK) is an uncommon histopathologic reaction pattern that may represent a primary pathological process or a coincidental finding in a variety of neoplasms. We present a case of EHK in an epidermoid (infundibular) cyst. Histopathologically, EHK demonstrates vacuolar degeneration of keratinocytes in the spinous and granular cell layers, with disrupted cellular boundaries, enlarged basophilic keratohyalin-like granules and amorphous eosinophilic inclusions, along with massive hyperkeratosis. Read More

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Scabies in a 14-year-old girl with superficial epidermolytic ichthyosis.

Pediatr Dermatol 2022 Mar 14;39(2):305-306. Epub 2021 Nov 14.

Department of Dermatology, Hospital Infantil del Niño Jesús, Madrid, Spain.

A 14-year-old girl who reported generalized scaling and hyperkeratosis since age 1 year presented with severe pruritus of several months' duration. Scabies mites were detected, and molecular genetic analysis subsequently revealed a rare pathogenic variant in the keratin 2 (KRT2) gene, confirming a diagnosis of superficial epidermolytic ichthyosis. Treatment with oral ivermectin led to complete remission of symptoms. Read More

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Novel missense mutation c.539A>G; p.Glu180Gly in keratin 1 causing epidermolytic ichthyosis.

J Dermatol 2021 Dec 5;48(12):e579-e580. Epub 2021 Sep 5.

Department of Dermatology, Jichi Medical University, Shimotsuke, Japan.

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December 2021

Epidermolytic ichthyosis in a child and systematized epidermolytic nevi in the mosaic parent associated with a KRT1 variant.

Eur J Med Genet 2021 Nov 27;64(11):104324. Epub 2021 Aug 27.

Dermatology Service, KK Women's and Children's Hospital, Singapore; SingHealth Duke-NUS Paediatric Academic Medicine Programme, Singapore.

Epidermolytic ichthyosis and epidermolytic nevi share the same histopathological features of epidermolytic hyperkeratosis, characterized by distinctive vacuolar degeneration and hypergranulosis of the superficial epidermis. Both are caused by pathogenic variants in either of two keratin genes KRT1or KRT10, with epidermolytic ichthyosis presenting as a generalized phenotype and epidermolytic nevi presenting as a mosaic phenotype. We report a boy who presented as epidermolytic ichthyosis, with diffuse erythema, superficial erosions and flaccid blisters at birth progressing to generalized ichthyosis. Read More

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November 2021

An unusual case of keratinopathic icthyosis: a diagnostic conundrum.

Dermatol Online J 2021 Jun 15;27(6). Epub 2021 Jun 15.

Department of Dermatology, Venereology and Leprology, Christian Medical College and Hospital, Vellore, Tamil Nadu.

Epidermolytic ichthyosis (EI) is a rare inherited ichthyosis related to heterozygous mutations in the Keratin 1 or Keratin 10 genes. Because of the broad phenotypic spectrum, it is sometimes difficult to differentiate it from other keratinopathic ichthyoses (KI) in clinical practice. We report an intriguing case of KI presenting as generalized ichthyosis in a reticulate pattern surrounding islands of normal skin, epidermolytic hyperkeratosis and binucleate cells on histopathology, and heterozygous mutation in KRT10. Read More

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Epidermolytic Hyperkeratosis.

JAMA Dermatol 2021 09;157(9):1114

Division of Dermatology, University of Louisville, Louisville, Kentucky.

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September 2021

Post Zygotic, Somatic, Deletion in KERATIN 1 V1 Domain Generates Structural Alteration of the K1/K10 Dimer, Producing a Monolateral Palmar Epidermolytic Nevus.

Int J Mol Sci 2021 Jun 27;22(13). Epub 2021 Jun 27.

Department of Experimental Medicine, University of Tor Vergata, 00133 Rome, Italy.

Palmoplantar keratodermas (PPKs) are characterized by thickness of stratum corneum and epidermal hyperkeratosis localized in palms and soles. PPKs can be epidermolytic (EPPK) or non epidermolytic (NEPPK). Specific mutations of keratin 16 (K16) and keratin 1 (K1) have been associated to EPPK, and NEPPK. Read More

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Ulnar deviation with massive palmar keratoderma in epidermolytic ichthyosis.

J Dermatol 2021 Sep 6;48(9):e456-e457. Epub 2021 Jun 6.

Department of Dermatology, Kurume University School of Medicine, Kurume, Japan.

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September 2021

Ichthyoses-A Clinical and Pathological Spectrum from Heterogeneous Cornification Disorders to Inflammation.

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

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Two Cases of Multiple Epidermolytic Acanthomas Mimicking Verruca Vulgaris.

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

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December 2020

Generalized epidermolytic ichthyosis with palmoplantar hyperkeratosis.

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

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February 2021

Bilateral Systematised Epidermolytic Epidermal Nevus: A case report.

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

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February 2021

High-fat diet induces a predisposition to follicular hyperkeratosis and neutrophilic folliculitis in mice.

J Allergy Clin Immunol 2021 08 10;148(2):473-485.e10. Epub 2021 Mar 10.

Singapore Immunology Network, Agency for Science, Technology and Research, Biopolis, Singapore; Skin Research Institute of Singapore, Agency for Science, Technology and Research, Biopolis, Singapore; Department of Dermatology, Kyoto University Graduate School of Medicine, Kyoto, Japan. Electronic address:

Background: Neutrophilic folliculitis is an inflammatory condition of hair follicles. In some neutrophilic folliculitis, such as in patients with acne and hidradenitis suppurativa, follicular hyperkeratosis is also observed. Neutrophilic folliculitis is often induced and/or exacerbated by a high-fat diet (HFD). Read More

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Mosaic epidermolytic ichthyosis.

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

Dermatology Department, Coimbra University Hospital, Coimbra, Portugal.

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February 2021

Visualization of Keratin with Diffuse Reflectance and Autofluorescence Imaging and Nonlinear Optical Microscopy in a Rare Keratinopathic Ichthyosis.

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

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February 2021

Epidermolytic hyperkeratosis of the vulva.

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

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January 2021

Epidermolytic epidermal nevus caused by a somatic mutation in KRT2.

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

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A novel KRT1 c.1433A>G p.(Glu478Gly) mutation in a newborn with epidermolytic ichthyosis.

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

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December 2020

Adult-onset epidermal nevus with epidermolytic hyperkeratotic pattern: Case report and dermoscopic findings.

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

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December 2020

TNF Is Partially Required for Cell-Death-Triggered Skin Inflammation upon Acute Loss of cFLIP.

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

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November 2020

First Case of Epidermolytic Nevus and Novel Clinical and Genetic Findings in 26 Italian Patients with Keratinopathic Ichthyoses.

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

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October 2020

Epidermolytic acanthoma in a young woman: a case letter.

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

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September 2020