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Epidermolytic Ichthyosis

F J D Smith, I M Kreuser-Genis, C S Jury, N J Wilson, A Terron-Kwiatowski, M Zamiri
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. Causative mutations in KRT1 and KRT10 have been described, with PPK being present primarily in association with the former...
October 4, 2018: Clinical and Experimental Dermatology
Theodore D Zaki, Ki-Young Yoo, Michael Kassardjian, Keith A Choate
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)...
November 2018: Pediatric Dermatology
Kunal Malik, Helen He, Thy Nhat Huynh, Gary Tran, Kelly Mueller, Kristina Doytcheva, Yael Renert-Yuval, Tali Czarnowicki, Shai Magidi, Margaret Chu, Yeriel D Estrada, Huei-Chi Wen, Xiangyu Peng, Hui Xu, Xiuzhong Zheng, James G Krueger, Amy S Paller, Emma Guttman-Yassky
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. METHODS: Gene, protein, and serum studies were performed on skin and blood samples from 29 patients (congenital ichthyosiform erythroderma/CIE, n=9; lamellar ichthyosis/LI, n=8; epidermolytic ichthyosis/EI, n=8; and Netherton syndrome/NS, n=4), as well as age-matched healthy controls (n=14), psoriasis (n=30), and atopic dermatitis/AD (n=16) patients...
May 24, 2018: Journal of Allergy and Clinical Immunology
Lisa Graziano, Mauro Vasconi, Luisa Cornegliani
A non-epidermolytic ichthyosis has been identified in Golden Retrievers due to a variant in the PNPLA1 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 PNPLA1 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 PNPLA1 genotype using PCR testing of oral swabs were performed in 48 breeding Golden Retrievers...
May 8, 2018: Veterinary Sciences
Alessandro Terrinoni, Biagio Didona, Sabrina Caporali, Giovanni Chillemi, Alessandro Lo Surdo, Mauro Paradisi, Margherita Annichiarico-Petruzzelli, Eleonora Candi, Sergio Bernardini, Gerry Melino
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...
2018: PloS One
Tali Czarnowicki, Helen He, Alexandra Leonard, Kunal Malik, Shai Magidi, Stephanie Rangel, Krishna Patel, Kara Ramsey, Morgan Murphrey, Teresa Song, Yeriel Estrada, Hue-Chi Wen, James G Krueger, Emma Guttman-Yassky, Amy S Paller
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. Flow cytometry was used to measure IFN-γ, IL-13, IL-9, IL-17, and IL-22 cytokines in CD4+ /CD8+ T cells, with inducible co-stimulator molecule and HLA-DR defining mid- and long-term T-cell activation, respectively...
April 14, 2018: Journal of Investigative Dermatology
David Simkin, Jonathan D Ho, Daren J Simkin, Kevin Tomany
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. We alsodescribe her treatment course, which consisted ofa failed z-plasty, the traditional therapeutic optionfor acute pseudoainhum, and report the success ofsubsequent full thickness skin graft, suggesting thebenefit of this procedure as a therapeutic alternativefor patients with pseudoainhum...
January 15, 2018: Dermatology Online Journal
D Vodo, O Sarig, A Peled, L Samuelov, N Malchin, M Grafi-Cohen, E Sprecher
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. Direct sequencing of the patient's genomic DNA revealed a novel homozygous nonsense mutation residing within the proximal part KRT10 first exon...
March 2018: Clinical and Experimental Dermatology
Hiromitsu Shimada, Naoko Takeo, Tomoko Saito-Shono, Kazushi Ishikawa, Takashi Sakai, Mizuki Goto, Yutaka Hatano, Sakuhei Fujiwara, Mitsuhiro Matsuda, Takahiro Hamada, Takekuni Nakama, Takashi Hashimoto, Michihiro Kono, Masashi Akiyama, Yasuo Kitajima
No abstract text is available yet for this article.
February 1, 2018: European Journal of Dermatology: EJD
Anders Vahlquist, Judith Fischer, Hans Törmä
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. In nonsyndromic forms, these features are most evident in severe autosomal recessive congenital ichthyosis (ARCI) and epidermolytic ichthyosis, but to some extent also occur in the common type of non-congenital ichthyosis...
February 2018: American Journal of Clinical Dermatology
Michihiro Kono, Yasushi Suga, Tomohiro Akashi, Yasutomo Ito, Takuya Takeichi, Yoshinao Muro, Masashi Akiyama
No abstract text is available yet for this article.
September 2017: Journal of Investigative Dermatology
F Toberer, R Happle, R Schneiderbauer, I Hausser, V Kröhl, A Epple, U Moog, A H Enk, A S Lonsdorf
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...
November 2017: Journal of the European Academy of Dermatology and Venereology: JEADV
Marina Eskin-Schwartz, Marianna Drozhdina, Ofer Sarig, Andrea Gat, Tomer Jackman, Ofer Isakov, Noam Shomron, Liat Samuelov, Natalia Malchin, Alon Peled, Dan Vodo, Alain Hovnanian, Thomas Ruzicka, Sergei Koshkin, Robert M Harmon, Jennifer L Koetsier, Kathleen J Green, Amy S Paller, Eli Sprecher
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. In the current report, the authors describe members of 2 families presenting with clinical features consistent with EI...
June 2017: American Journal of Dermatopathology
Niloufar Torkamani, Pramit Phal, Ravi Savarirayan, Peter Simm, George Varigos, John Wark
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. The most common types are: ichthyosis vulgaris, X-linked recessive ichthyosis, epidermolytic hyperkeratosis (bullous), lamellar ichthyosis and non-bullous ichthyosiform erythroderma...
May 2016: Clinical Cases in Mineral and Bone Metabolism
Wallace Austin Smith, Austin Cope, Martin Fernandez, Palak Parekh
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.  Other manifestations include palmoplantar keratoderma (PPK).  EI results from mutations in the keratin 1 and keratin 10 genes. Phenotypic variability is seen in affected individuals based on the genotypic mutation.  We present a mother and her newborn son with EI and prominent PPK in the mother, which also developed in the child at a few months of age...
April 18, 2016: Dermatology Online Journal
Ana Gameiro, Rita Cabral, Ana Moreno, Oscar Tellechea
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.
November 2016: Pediatric Dermatology
Amy S Paller, Yael Renert-Yuval, Maria Suprun, Hitokazu Esaki, Margeaux Oliva, Thy Nhat Huynh, Benjamin Ungar, Norma Kunjravia, Rivka Friedland, Xiangyu Peng, Xiuzhong Zheng, Yeriel D Estrada, James G Krueger, Keith A Choate, Mayte Suárez-Fariñas, Emma Guttman-Yassky
BACKGROUND: The ichthyoses are rare genetic disorders associated with generalized scaling, erythema, and epidermal barrier impairment. Pathogenesis-based therapy is largely lacking because the underlying molecular basis is poorly understood. OBJECTIVE: We sought to characterize molecularly cutaneous inflammation and its correlation with clinical and barrier characteristics. METHODS: We analyzed biopsy specimens from 21 genotyped patients with ichthyosis (congenital ichthyosiform erythroderma, n = 6; lamellar ichthyosis, n = 7; epidermolytic ichthyosis, n = 5; and Netherton syndrome, n = 3) using immunohistochemistry and RT-PCR and compared them with specimens from healthy control subjects, patients with atopic dermatitis (AD), and patients with psoriasis...
January 2017: Journal of Allergy and Clinical Immunology
J Wesley Fletcher, Arathi Ramamurthi, Palak 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. Shave biopsy revealed findings consistent with epidermolytic hyperkeratosis...
April 2016: Proceedings of the Baylor University Medical Center
Blake Galler, Casey Bowen, Jason Arnold, Todd Kobayashi, Scott R Dalton
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...
May 2016: Journal of Cutaneous Pathology
Mondell Avril, Cheryl Riley
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...
2016: Neonatal Network: NN
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