13,047 results match your criteria xeroderma


Early escharotomy-like procedure for the prevention of extremity autoamputation in harlequin ichthyosis.

Biomed J 2021 Apr 11. Epub 2021 Apr 11.

Division of Trauma Plastic Surgery, Department of Plastic and Reconstructive Surgery, Chang Gung Memorial Hospital at Linkou, Taoyuan, Taiwan; Craniofacial Research Center, Chang Gung Memorial Hospital at Taoyuan, Taoyuan, Taiwan; College of Medicine, Chang Gung University, Taoyuan, Taiwan; Xiamen Chang Gung Hospital, Xiamen, China. Electronic address:

Harlequin ichthyosis is a rare congenital disorder, which causes restrictive circumferential encasement of the trunk and limbs. Patients usually develop compartment syndrome and sequential cyanosis of limbs and digits, leading to autoamputation. We report a case of harlequin ichthyosis in which all digits were preserved with an early escharotomy-like procedure. Read More

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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 ocular surface squamous neoplasia: A study of 25 patients and review of literature.

Eur J Ophthalmol 2021 Apr 5:11206721211007109. Epub 2021 Apr 5.

Operation Eyesight Universal Institute for Eye Cancer, LV Prasad Eye Institute, Hyderabad, India.

Purpose: To describe the risk factors, clinical presentation, management, and outcomes of patients with bilateral ocular surface squamous neoplasia (OSSN).

Methods: Retrospective case series.

Results: Of the 25 patients with bilateral OSSN, the mean age at diagnosis of OSSN was 31 years (median, 24 years; range, 2-60 years). Read More

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Congenital Ichthyosis in a Case of Spinocerebellar Ataxia Type 34: A Novel Presentation for a Known Mutation.

Mov Disord Clin Pract 2021 Feb 11;8(2):275-278. Epub 2021 Jan 11.

Department of Neurology Hazrat Rasool Hospital, Iran University of Medical Sciences Tehran Iran.

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February 2021

Teratogenic effect of isotretinoin in both fertile females and males (Review).

Exp Ther Med 2021 May 23;21(5):534. Epub 2021 Mar 23.

Department of Dermatology, 'Elias' Emergency University Hospital, 011461 Bucharest, Romania.

Isotretinoin is an oral derivate of vitamin A that has been used since 1982 for the treatment of multiple dermatologic conditions such as severe acne, rosacea, scarring alopecia, ichthyosis or non-melanoma skin cancer prophylaxis. The recommended dose is 0.5-1 mg/kg/day for a period of 4-6 months in sebaceous gland pathologies. Read More

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Retaining Skin Barrier Function Properties of the Stratum Corneum with Components of the Natural Moisturizing Factor-A Randomized, Placebo-Controlled Double-Blind In Vivo Study.

Molecules 2021 Mar 16;26(6). Epub 2021 Mar 16.

Center of Experimental and Applied Cutaneous Physiology, Department of Dermatology, Venerology and Allergology, Charité-Universitätsmedizin Berlin, Corporate Member of Freie Universität Berlin and Humboldt-Universität zu Berlin, Charitéplatz 1, 10117 Berlin, Germany.

The influence of a topically applied formulation containing components of natural moisturizing factor (NMF) on barrier-related parameters of the stratum corneum (SC) was investigated in vivo using confocal Raman microspectroscopy in a randomized, placebo-controlled double-blind study on 12 volunteers for 14 days. This method allowed for the elucidation of subtle differences between the verum and the placebo even though the components of the verum naturally occur in the SC. This differentiation is not possible non-invasively by conventional methods. Read More

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Novel Homozygous Mutations in the Genes , , and in Four Families Underlying Congenital Ichthyosis.

Genes (Basel) 2021 Mar 5;12(3). Epub 2021 Mar 5.

Department of Biotechnology and Genetic Engineering, Kohat University of Science & Technology (KUST), Kohat 26000, Khyber Pakhtunkhwa, Pakistan.

Background: Ichthyoses are a large group of hereditary cornification disorders, which are both clinically and etiologically heterogeneous and affect mostly all the skin surface of the patients. Ichthyosis has its origin in an ancient Greek word "ichthys" meaning fish, this is because the ichthyosis patients have dry, thickened, and scaly skin. There is an excess accumulation of epidermal cells resulting in the appearance of continuous and widespread scales on the body. Read More

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The Complex and Critical Role of Glycine 12 (G12) in Beta-Connexins of Human Skin.

Int J Mol Sci 2021 Mar 5;22(5). Epub 2021 Mar 5.

Biology Department, SUNY Buffalo State, 1300 Elmwood Ave, Buffalo, NY 14222, USA.

Glycine is an amino acid with unique properties because its side chain is composed of a single hydrogen atom. It confers conformational flexibility to proteins and conserved glycines are often indicative of protein domains involving tight turns or bends. All six beta-type connexins expressed in human epidermis (Cx26, Cx30, Cx30. Read More

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In Silico Drug Repurposing by Structural Alteration after Induced Fit: Discovery of a Candidate Agent for Recovery of Nucleotide Excision Repair in Xeroderma Pigmentosum Group D Mutant (R683W).

Biomedicines 2021 Mar 3;9(3). Epub 2021 Mar 3.

Division of Dermatology, Kobe University Graduate School of Medicine, Kobe 650-0017, Japan.

Xeroderma pigmentosum complementation group D (XPD) is a UV-sensitive syndrome and a rare incurable genetic disease which is caused by the genetic mutation of the excision repair cross-complementation group 2 gene (). Patients who harbor only XPD R683W mutant protein develop severe photosensitivity and progressive neurological symptoms. Cultured cells derived from patients with XPD (XPD R683W cells) demonstrate a reduced nucleotide excision repair (NER) ability. Read More

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Scalp roof tiles.: A new diagnostic sign in neonates with Netherton Syndrome.

Saudi Med J 2021 Apr;42(4):454-456

From the Dermatology Department (Al-Khenaizan), King Abdulaziz Medical City-Ministry of National Guard; from the College of Medicine (Al-Khenaizan), King Saud Bin Abdulaziz University for Health Sciences; and from the Dermatology Department (Al-Mubarak), Prince Sultan Military Medical City, Riyadh, Kingdom of Saudi Arabia.

Clinical Presentation: A 2-month-old baby boy, of full-term spontaneous vaginal delivery, presented to the dermatology outpatient clinic with generalized erythroderma, which had been noted since birth. Family history was positive for similar disease in his eldest sister, who died at 6 months of age without a diagnosis. On examination, the patient looked ill with generalized erythroderma, yet there were no signs of ectropion, eclabium, or deformed ears. Read More

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Molecular epidemiology of non-syndromic autosomal recessive congenital ichthyosis in a Middle-Eastern population.

Exp Dermatol 2021 Mar 31. Epub 2021 Mar 31.

Division of Dermatology and Pediatric Dermatology Unit, Tel Aviv Sourasky Medical Center, Tel Aviv, Israel.

Autosomal recessive congenital ichthyosis (ARCI) is a rare and heterogeneous skin cornification disorder presenting with generalized scaling and varying degrees of erythema. Clinical manifestations range from lamellar ichthyosis (LI), congenital ichthyosiform erythroderma (CIE) through the most severe form of ARCI, Harlequin ichthyosis (HI). We used homozygosity mapping, whole-exome and direct sequencing to delineate the relative distribution of pathogenic variants as well as identify genotype-phenotype correlations in a cohort of 62 Middle Eastern families with ARCI of various ethnic backgrounds. Read More

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Lung adenocarcinoma concomitant with xeroderma pigmentosum: a case report.

J Med Case Rep 2021 Mar 30;15(1):160. Epub 2021 Mar 30.

Department of Respiratory Medicine, Kitaharima Medical Center, Ichiba-cho, Ono, Hyogo, 675-1392, Japan.

Background: Xeroderma pigmentosum is a rare, autosomal-recessive photosensitive dermatosis. Patients with xeroderma pigmentosum have an impaired ability to repair deoxyribonucleic acid damage caused by ultraviolet rays, resulting in skin cancer. Patients with xeroderma pigmentosum are more susceptible to some cancers. Read More

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Therapeutics of xeroderma pigmentosum: A PRISMA-compliant systematic review.

Indian J Dermatol Venereol Leprol 2021 Mar-Apr;87(2):176-189

Division of Plastic Surgery, Federal University of São Paulo, São Paulo, SP, Brazil.

Xeroderma pigmentosum is a rare hereditary autosomal recessive genodermatosis. At present, there are many treatment options for xeroderma pigmentosum, covering medical/procedural, surgical and combined modalities. However, the quality of these interventions has not been assessed. Read More

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Nuclear receptor coactivator NCOA3 regulates ultraviolet radiation-induced DNA damage and melanoma susceptibility.

Cancer Res 2021 Mar 25. Epub 2021 Mar 25.

Cancer Center, CPMC Research Institute

Melanoma occurs as a consequence of inherited susceptibility to the disease and exposure to ultraviolet radiation (UVR) and is characterized by uncontrolled cellular proliferation and a high mutational load. The precise mechanisms by which UVR contributes to the development of melanoma remain poorly understood. Here we show that activation of nuclear receptor coactivator 3 (NCOA3) promotes melanomagenesis through regulation of UVR sensitivity, cell cycle progression, and circumvention of the DNA damage response (DDR). Read More

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MBTPS2, a membrane bound protease, underlying several distinct skin and bone disorders.

J Transl Med 2021 Mar 20;19(1):114. Epub 2021 Mar 20.

Center of Excellence for Medical Genomics, Medical Genomics Cluster, Department of Pediatrics, Faculty of Medicine, Chulalongkorn University, Bangkok, 10330, Thailand.

The MBTPS2 gene on the X-chromosome encodes the membrane-bound transcription factor protease, site-2 (MBTPS2) or site-2 protease (S2P) which cleaves and activates several signaling and regulatory proteins from the membrane. The MBTPS2 is critical for a myriad of cellular processes, ranging from the regulation of cholesterol homeostasis to unfolded protein responses. While its functional role has become much clearer in the recent years, how mutations in the MBTPS2 gene lead to several human disorders with different phenotypes including Ichthyosis Follicularis, Atrichia and Photophobia syndrome (IFAP) with or without BRESHECK syndrome, Keratosis Follicularis Spinulosa Decalvans (KFSD), Olmsted syndrome, and Osteogenesis Imperfecta type XIX remains obscure. Read More

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Prenatal diagnosis of a rare variant of harlequin ichthyosis with literature review.

BMC Med Imaging 2021 Mar 21;21(1):56. Epub 2021 Mar 21.

Department of Ultrasound, First Affiliated Hospital of Anhui Medical University, 218 Jixi Road, Hefei, 230022, Anhui, China.

Background: Harlequin ichthyosis (HI) is a rare and severe genetic skin disorder that occurs within the developing foetus. Due to the extremely poor prognosis, prenatal diagnosis becomes very important, especially for foetuses with no family history. There are few reports on prenatal diagnosis in PubMed. Read More

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Ichthyosis follicularis, atrichia and photophobia (IFAP) and hereditary mucoepithelial dysplasia: Two syndromes that share a common clinical spectrum.

Pediatr Dermatol 2021 Mar 19. Epub 2021 Mar 19.

Center in Investigation of Genodermatosis and Epidermolysis Bullosa (CEDIGEA), University of Buenos Aires, Buenos Aires, Argentina.

Ichthyosis follicularis, atrichia and photophobia syndrome (IFAP) is an X-linked inherited disease caused by pathogenic variants in the gene encoding the membrane-bound transcription factor peptidase, site 2 (MBTPS2). Clinical presentation includes ichthyosis follicularis, alopecia, photophobia and developmental delay. Hereditary mucoepithelial dysplasia (HMD) is a dominantly inherited disease characterized by keratitis, non-scarring alopecia, skin lesions including follicular keratosis, perineal erythema, and mucosal involvement. Read More

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Inherited skin disorders presenting with poikiloderma.

Int J Dermatol 2021 Mar 19. Epub 2021 Mar 19.

Department of Dermatology and Venereology, Faculty of Medicine, Public Health, and Nursing, Universitas Gadjah Mada, Yogyakarta, Indonesia.

Poikiloderma is a skin condition that combines atrophy, telangiectasia, and macular pigment changes (hypo- as well as hyperpigmentation). It is often mistaken for mottled pigmentation by general practitioners or nondermatology specialists. Poikiloderma can be a key presenting symptom of Rothmund-Thomson syndrome (RTS), dyskeratosis congenita (DC), hereditary sclerosing poikiloderma (HSP), hereditary fibrosing poikiloderma with tendon contractures, myopathy, and pulmonary fibrosis (POIKTMP), xeroderma pigmentosum (XP), Bloom syndrome (BS), Kindler syndrome (KS), and Clericuzio-type poikiloderma with neutropenia (PN). Read More

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Switch-like control of helicase processivity by single-stranded DNA binding protein.

Elife 2021 03 19;10. Epub 2021 Mar 19.

Department of Physics, University of Illinois, Urbana-Champaign, Urbana, United States.

Helicases utilize nucleotide triphosphate (NTP) hydrolysis to translocate along single-stranded nucleic acids (NA) and unwind the duplex. In the cell, helicases function in the context of other NA-associated proteins such as single-stranded DNA binding proteins. Such encounters regulate helicase function, although the underlying mechanisms remain largely unknown. Read More

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Utilization of patterned bioprinting for heterogeneous and physiologically representative reconstructed epidermal skin models.

Sci Rep 2021 Mar 18;11(1):6217. Epub 2021 Mar 18.

L'Oréal Research and Innovation, Aulnay-sous-Bois, France.

Organotypic skin tissue models have decades of use for basic research applications, the treatment of burns, and for efficacy/safety evaluation studies. The complex and heterogeneous nature of native human skin however creates difficulties for the construction of physiologically comparable organotypic models. Within the present study, we utilized bioprinting technology for the controlled deposition of separate keratinocyte subpopulations to create a reconstructed epidermis with two distinct halves in a single insert, each comprised of a different keratinocyte sub-population, in order to better model heterogonous skin and reduce inter-sample variability. Read More

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Expansion of the clinical and molecular spectrum of an XPD-related disorder linked to biallelic mutations in ERCC2 gene.

Clin Genet 2021 Mar 17. Epub 2021 Mar 17.

Department of Hematology/Oncology, Gene and Cell Therapy, Bambino Gesù Children's Hospital, IRCSS, Rome, Italy.

Bi-allelic inactivation of XPD protein, a nucleotide excision repair (NER) signaling pathway component encoded by ERCC2 gene, has been associated with several defective DNA repair phenotypes, including xeroderma pigmentosum, photosensitive trichothiodystrophy, and cerebro-oculo-facio-skeletal syndrome. We report a pediatric patient harboring two compound heterozygous variants in ERCC2 gene, c.361-1G>A and c. Read More

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Long-term disease course of two patients with multiple sulfatase deficiency differs from metachromatic leukodystrophy in a broad cohort.

JIMD Rep 2021 Mar 8;58(1):80-88. Epub 2020 Dec 8.

Department of Neuropediatrics University Children's Hospital Tübingen Germany.

Multiple sulfatase deficiency (MSD) is a lysosomal storage disease caused by a deficiency of formylglycine-generating enzyme due to defects. MSD may be misdiagnosed as metachromatic leukodystrophy (MLD), as neurological and neuroimaging findings are similar, and arylsulfatase A (ARSA) deficiency and enhanced urinary sulfatide excretion may also occur. While ARSA deficiency seems a cause for neurological symptoms and later neurodegenerative disease course, deficiency of other sulfatases results in clinical features such as dysmorphism, dysostosis, or ichthyosis. Read More

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Outcomes of keratoplasty in a cohort of Indian patients with xeroderma pigmentosum.

Indian J Ophthalmol 2021 Apr;69(4):860-864

The Cornea Institute, L V Prasad Eye Institute, Hyderabad, Telangana, India.

Purpose: To evaluate the outcomes of keratoplasty for xeroderma pigmentosum (XP) performed at a tertiary eye care center.

Methods: A retrospective review of medical records of those patients who were clinically diagnosed to have XP (54 eyes of 36 patients) and underwent keratoplasty; either deep anterior lamellar keratoplasty (DALK, four eyes), endothelial keratoplasty (EK, eight eyes), or penetrating keratoplasty (PK, 42 eyes) from 1994 to 2018.

Results: The median age at surgery was 20. Read More

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Juvenile primary Sjogren's syndrome with cutaneous involvement.

Clin Rheumatol 2021 Mar 12. Epub 2021 Mar 12.

Department of Integrated Traditional Chinese and Western Medicine of Rheumatology, Beijing Children's Hospital, Capital Medical University, National Center for Children's Health, Beijing, 100045, China.

Objective: This study aims to analyze the clinical characteristics of juvenile primary Sjogren's syndrome (pSS) with cutaneous involvement.

Methods: We investigated the clinical and immunological characteristics of 37 children with pSS. All the patients met the 2012 American College of Rheumatology Classification Criteria for Sjogren's syndrome. Read More

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Novel ERCC2 variant in trichothiodystrophy infant: the first case report in China.

BMC Pediatr 2021 Mar 12;21(1):123. Epub 2021 Mar 12.

Department of Neonatology, Longyan First Affiliated Hospital of Fujian Medical University, No.105, Jiyi North Road, Xinluo District, Longyan, 364000, Fujian, China.

Background: Trichothiodystrophy (TTD) is a rare, autosomal recessive, multisystem disorder most commonly caused by variants in ERCC2.

Case Presentation: Here, we describe the first Chinese patient with a novel variant in ERCC2. A male infant, who was born to a healthy non-consanguineous couple, exhibited brittle hair, hair loss ichthyosis, eczema, retinal pigmentation and hypospadias. Read More

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The importance of evaluate sleep complaints in children with ichthyoses: a commentary on the physical and psychological growth impairment.

J Clin Sleep Med 2021 Mar 8. Epub 2021 Mar 8.

Departamento de Psicobiologia, Universidade Federal de São Paulo (UNIFESP) São Paulo, Brazil.

None: Ichthyosis, as a debilitating disease, can cause significant physical and psychological damage to children and their families, which also comprehends sleep impairment. We call attention to the importance of evaluating sleep complaints in these patients, given the scarcity of studies on this subject. As the disease commonly results in severe skin injury, it can affect social relationships and the life and sleep quality of the individuals, leading to significant psychological damage that can persist throughout their lives. Read More

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A novel claudin-10 mutation with a unique mechanism in two unrelated families with HELIX syndrome.

Kidney Int 2021 Mar 3. Epub 2021 Mar 3.

Department of Genetics, King Faisal Specialist Hospital & Research Centre, Riyadh, Saudi Arabia.

HELIX syndrome, characterized by hypohidrosis, electrolyte imbalance, lacrimal gland dysfunction, ichthyosis, and xerostomia due to claudin-10 (CLDN10) mutations was recognized in 2017. Here we describe two unrelated Saudi families with this syndrome due to a novel CLDN10 mutation with a unique mechanism of CLDN10 inactivation. The two consanguineous families include 12 affected individuals (three siblings in family 1 and nine members in family 2). Read More

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Clinical and Mutational Spectrum of Xeroderma Pigmentosum in Egypt: Identification of Six Novel Mutations and Implications for Ancestral Origins.

Genes (Basel) 2021 Feb 20;12(2). Epub 2021 Feb 20.

Clinical Genetics Department, HGGR, NRC, Cairo 12622, Egypt.

Xeroderma pigmentosum is a rare autosomal recessive skin disorder characterized by freckle-like dry pigmented skin, photosensitivity, and photophobia. Skin and ocular symptoms are confined to sun exposed areas of the body. Patients have markedly increased risk for UV-induced skin, ocular, and oral cancers. Read More

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February 2021

hiPSC-Derived Epidermal Keratinocytes from Ichthyosis Patients Show Altered Expression of Cornification Markers.

Int J Mol Sci 2021 Feb 11;22(4). Epub 2021 Feb 11.

Department of Biological and Geographical Sciences, University of Huddersfield, Queensgate, Huddersfield HD1 3DH, UK.

Inherited ichthyoses represent a large heterogeneous group of skin disorders characterised by impaired epidermal barrier function and disturbed cornification. Current knowledge about disease mechanisms has been uncovered mainly through the use of mouse models or human skin organotypic models. However, most mouse lines suffer from severe epidermal barrier defects causing neonatal death and human keratinocytes have very limited proliferation ability in vitro. Read More

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February 2021

Chemical-Genetic Interactions of Constituents in Cells Deficient for the DNA Repair Endonuclease Appear Linked to Vacuolar Disruption.

Molecules 2021 Feb 24;26(5). Epub 2021 Feb 24.

Department of Biochemistry, Faculty of Science, Mahidol University, Bangkok 10400, Thailand.

Colorectal cancer is a common cancer worldwide and reduced expression of the DNA repair endonuclease XPF (xeroderma pigmentosum complementation group F) is associated with colorectal cancer. extracts were previously found to exhibit chemical-genetic synthetic lethal effects in a model of colorectal cancer lacking Rad1p, a structural and functional homologue of human XPF. However, the mechanisms for extracts to limit proliferation and promote an apoptosis-like event in deleted yeast was not elucidated. Read More

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February 2021