المؤلفون: Fischer J; Institute of Human Genetics, Medical Center, University of Freiburg, Germany.; Faculty of Medicine, University of Freiburg, Freiburg, Germany.

المصدر: The British journal of dermatology [Br J Dermatol] 2024 Aug 14; Vol. 191 (3), pp. 320-321.

نوع المنشور: Letter; Case Reports; Editorial; Comment

بيانات الدورية: Publisher: Oxford University Press Country of Publication: England NLM ID: 0004041 Publication Model: Print Cited Medium: Internet ISSN: 1365-2133 (Electronic) Linking ISSN: 00070963 NLM ISO Abbreviation: Br J Dermatol Subsets: MEDLINE

مواضيع طبية MeSH: Ichthyosis, Lamellar*/genetics , Ichthyosis, Lamellar*/diagnosis , Ichthyosis, Lamellar*/therapy, Humans ; Genetic Therapy/methods

المؤلفون: Shah SR; Department of Dermatology, Venereology and Leprology, B.J. Medical College and Civil Hospital, Ahmedabad, Gujarat, India., Vyas HR; Department of Dermatology, Venereology and Leprology, B.J. Medical College and Civil Hospital, Ahmedabad, Gujarat, India; dr.harshitavyas@gmail.com., Vaghasia AT; Department of Dermatology, Venereology and Leprology, B.J. Medical College and Civil Hospital, Ahmedabad, Gujarat, India., Brahmbhatt VU; Department of Dermatology, Venereology and Leprology, B.J. Medical College and Civil Hospital, Ahmedabad, Gujarat, India., Shah BJ; Department of Dermatology, Venereology and Leprology, B.J. Medical College and Civil Hospital, Ahmedabad, Gujarat, India.

المصدر: Skinmed [Skinmed] 2024 Aug 02; Vol. 22 (2), pp. 152-156. Date of Electronic Publication: 2024 Aug 02 (Print Publication: 2024).

نوع المنشور: Case Reports; Journal Article

بيانات الدورية: Publisher: Pulse Marketing & Communications Country of Publication: United States NLM ID: 101168327 Publication Model: eCollection Cited Medium: Internet ISSN: 1751-7125 (Electronic) Linking ISSN: 15409740 NLM ISO Abbreviation: Skinmed Subsets: MEDLINE

مواضيع طبية MeSH: Acitretin*/adverse effects , Acitretin*/therapeutic use , Ichthyosis, Lamellar*/drug therapy , Keratolytic Agents*/adverse effects , Keratolytic Agents*/therapeutic use , Neutropenia*/chemically induced, Humans ; Infant ; Male ; Female

المؤلفون: Ishida Y; Department of Dermatology, Kyoto University Graduate School of Medicine, Kyoto, Japan., Saeki K; Department of Biochemistry, Graduate School of Medicine, Juntendo University, Tokyo, Japan., Ueda M; Department of Dermatology, Kyoto University Graduate School of Medicine, Kyoto, Japan., Lee-Okada HC; Department of Biochemistry, Graduate School of Medicine, Juntendo University, Tokyo, Japan., Doi H; Department of Dermatology, Kyoto University Graduate School of Medicine, Kyoto, Japan., Kambe N; Department of Dermatology, Kyoto University Graduate School of Medicine, Kyoto, Japan., Nakajima S; Department of Dermatology, Kyoto University Graduate School of Medicine, Kyoto, Japan., Yokomizo T; Department of Biochemistry, Graduate School of Medicine, Juntendo University, Tokyo, Japan., Kabashima K; Department of Dermatology, Kyoto University Graduate School of Medicine, Kyoto, Japan.

المصدر: Journal of the European Academy of Dermatology and Venereology : JEADV [J Eur Acad Dermatol Venereol] 2024 Jun; Vol. 38 (6), pp. e493-e495. Date of Electronic Publication: 2023 Dec 07.

نوع المنشور: Letter; Case Reports

بيانات الدورية: Publisher: Wiley-Blackwell Country of Publication: England NLM ID: 9216037 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1468-3083 (Electronic) Linking ISSN: 09269959 NLM ISO Abbreviation: J Eur Acad Dermatol Venereol Subsets: MEDLINE

مواضيع طبية MeSH: Ichthyosis, Lamellar*/genetics, Humans ; Male ; Female ; Cytochrome P-450 Enzyme System/genetics ; Mutation

المؤلفون: Noda T; Department of Dermatology, Nagoya University Graduate School of Medicine, Nagoya, Aichi, Japan., Takeichi T; Department of Dermatology, Nagoya University Graduate School of Medicine, Nagoya, Aichi, Japan.; Nagoya University Institute for Advanced Research, Nagoya, Japan., Tanahashi K; Department of Dermatology, Nagoya University Graduate School of Medicine, Nagoya, Aichi, Japan., Ogawa Y; Department of Dermatology, Nagoya University Graduate School of Medicine, Nagoya, Aichi, Japan., Takeuchi S; Department of Dermatology, Nagoya University Graduate School of Medicine, Nagoya, Aichi, Japan., Yoshikawa T; Department of Dermatology, Nagoya University Graduate School of Medicine, Nagoya, Aichi, Japan., Toriyama E; Department of Dermatology, Japanese Red Cross Aichi Medical Center Nagoya Daini Hospital, Nagoya, Japan., Ashida M; Department of Dermatology, Nagasaki University Graduate School of Biomedical Sciences, Nagasaki, Japan., Imakado S; Department of Dermatology, Japanese Red Cross Medical Center, Tokyo, Japan., Tsuchihashi H; Department of Dermatology, Juntendo University Urayasu Hospital, Urayasu, Japan., Okamoto T; Department of Dermatology, Faculty of Medicine, University of Yamanashi, Yamanashi, Japan., Okuno Y; Department of Virology, Nagoya City University Graduate School of Medical Sciences, Nagoya, Japan., Ogi T; Department of Genetics, Research Institute of Environmental Medicine (RIeM), Nagoya University, Nagoya, Japan.; Department of Human Genetics and Molecular Biology, Nagoya University Graduate School of Medicine, Nagoya, Japan., Sugiura K; Department of Dermatology, Fujita Health University School of Medicine, Toyoake, Japan., Kubo A; Department of Dermatology, Keio University School of Medicine, Tokyo, Japan., Muro Y; Department of Dermatology, Nagoya University Graduate School of Medicine, Nagoya, Aichi, Japan., Suga Y; Department of Dermatology, Juntendo University Urayasu Hospital, Urayasu, Japan., Ishida-Yamamoto A; Department of Dermatology, Asahikawa Medical College, Asahikawa, Japan., Akiyama M; Department of Dermatology, Nagoya University Graduate School of Medicine, Nagoya, Aichi, Japan.

المصدر: Experimental dermatology [Exp Dermatol] 2024 Apr; Vol. 33 (4), pp. e15072.

نوع المنشور: Journal Article

بيانات الدورية: Publisher: Munksgaard Country of Publication: Denmark NLM ID: 9301549 Publication Model: Print Cited Medium: Internet ISSN: 1600-0625 (Electronic) Linking ISSN: 09066705 NLM ISO Abbreviation: Exp Dermatol Subsets: MEDLINE

مواضيع طبية MeSH: Ichthyosis, Lamellar*/genetics , Ichthyosis, Lamellar*/pathology , Ichthyosis*/genetics , Ichthyosiform Erythroderma, Congenital*/genetics, Humans ; DNA, Complementary ; Genes, Recessive ; Mutation ; Genetic Association Studies ; ATP-Binding Cassette Transporters/genetics

المؤلفون: Byrne N; Department of Dermatology, Addenbrooke's Hospital, Cambridge University Hospitals, Cambridge, UK., Forde K; Department of Dermatology, Addenbrooke's Hospital, Cambridge University Hospitals, Cambridge, UK., Mcdonald S; Department of Histopathology, Addenbrooke's Hospital, Cambridge University Hospitals, Cambridge, UK., Malladi R; Department of Haematology, Addenbrooke's Hospital, Cambridge University Hospitals, Cambridge, UK., Chan S; Department of Dermatology, Addenbrooke's Hospital, Cambridge University Hospitals, Cambridge, UK.

المصدر: European journal of dermatology : EJD [Eur J Dermatol] 2024 Apr 01; Vol. 34 (2), pp. 236-238.

نوع المنشور: Case Reports; Letter; Journal Article

بيانات الدورية: Publisher: John Libbey Eurotext Country of Publication: France NLM ID: 9206420 Publication Model: Print Cited Medium: Internet ISSN: 1952-4013 (Electronic) Linking ISSN: 11671122 NLM ISO Abbreviation: Eur J Dermatol Subsets: MEDLINE

مواضيع طبية MeSH: Drug Eruptions*/etiology , Drug Eruptions*/pathology , Imidazoles*/adverse effects , Pyridazines*/adverse effects , Ichthyosis, Lamellar*/chemically induced , Ichthyosis, Lamellar*/pathology, Humans ; Female ; Antineoplastic Agents/adverse effects ; Male

المؤلفون: Azeez F; Department of Dermatology, Government Medical College, Kottayam, Kerala, India., Sunil M; Department of Dermatology, Government Medical College, Kottayam, Kerala, India., Sahadevan G; Department of Dermatology, Government Medical College, Kottayam, Kerala, India., Kidangazhiathmana A; Department of Dermatology, Government Medical College, Kottayam, Kerala, India., Mathews I; Department of Dermatology, Government Medical College, Kottayam, Kerala, India.

المصدر: Pediatric dermatology [Pediatr Dermatol] 2024 Mar-Apr; Vol. 41 (2), pp. 348-350. Date of Electronic Publication: 2023 Nov 28.

نوع المنشور: Case Reports; Journal Article

بيانات الدورية: Publisher: Wiley Country of Publication: United States NLM ID: 8406799 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1525-1470 (Electronic) Linking ISSN: 07368046 NLM ISO Abbreviation: Pediatr Dermatol Subsets: MEDLINE

مواضيع طبية MeSH: Ichthyosis, Lamellar*/drug therapy , Ichthyosis, Lamellar*/genetics , Skin Neoplasms*, Child ; Humans ; Vitamin D/therapeutic use ; Acitretin/therapeutic use

المؤلفون: Severino-Freire M; University Hospital Center of Toulouse, Reference Centre for Rare Skin Diseases, Department of Dermatology, Larrey Hospital, 24, Chemin de Pouvourville, TSA 30030 Toulouse Cedex 9, France., Granier Tournier C; University Hospital Center of Toulouse, Reference Centre for Rare Skin Diseases, Department of Dermatology, Larrey Hospital, 24, Chemin de Pouvourville, TSA 30030 Toulouse Cedex 9, France., Chiaverini C; University Hospital Center of Nice, Department of Dermatology, Archet 2 Hospital, CS 23079, 06202 Nice Cedex 3, France., Audouze A; Association Ichtyose France, 37 rue du Golf, 03700 Bellerive sur Allier, France., Morice-Picard F; Department of Dermatology, University Hospital Center of Bordeaux - Hôpital Saint André, 1 Rue Jean Burguet, 33075 Bordeaux Cedex, France., Texier H; University Hospital Center of Toulouse, Reference Centre for Rare Skin Diseases, Department of Dermatology, Larrey Hospital, 24, Chemin de Pouvourville, TSA 30030 Toulouse Cedex 9, France., Dreyfus I; University Hospital Center of Toulouse, Reference Centre for Rare Skin Diseases, Department of Dermatology, Larrey Hospital, 24, Chemin de Pouvourville, TSA 30030 Toulouse Cedex 9, France., Bing-Lecointe AC; Hospital Annecy-Genevois site Annecy, 1 Avenue De L'hôpital, 74370 Annecy, France., Mallet S; Department of Dermatology, University Hospital Center of Marseille, 264 rue Saint-Pierre, 13005 Marseille, France., Bodemer C; Department of Dermatology, Reference Center for Genodermatoses and Rare Skin Diseases (MAGEC), Hôpital Necker-Enfants Malades, AP-HP, 149 Rue de Sèvres, 75743 Paris cedex 15, France., Fischer J; Institute of Human Genetics, Medical Center - University of Freiburg, Faculty of Medicine, University of Freiburg, Breisacher Straße 153, 79110 Freiburg, Germany., Jonca N; University Hospital Center of Toulouse, Hôpital Purpan, Cell Biology and Cytology Laboratory, Institut Fédératif de Biologie, Toulouse F-31300, France., Mazereeuw-Hautier J; University Hospital Center of Toulouse, Reference Centre for Rare Skin Diseases, Department of Dermatology, Larrey Hospital, 24, Chemin de Pouvourville, TSA 30030 Toulouse Cedex 9, France. Electronic address: mazereeuw-hautier.j@chu-toulouse.fr.

مؤلفون مشاركون: French Pediatric Dermatology Research Group

المصدر: Annales de dermatologie et de venereologie [Ann Dermatol Venereol] 2024 Mar; Vol. 151 (1), pp. 103247. Date of Electronic Publication: 2024 Mar 20.

نوع المنشور: Practice Guideline

بيانات الدورية: Publisher: Masson Country of Publication: France NLM ID: 7702013 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 0151-9638 (Print) Linking ISSN: 01519638 NLM ISO Abbreviation: Ann Dermatol Venereol Subsets: MEDLINE

مواضيع طبية MeSH: Ichthyosis, Lamellar*/diagnosis , Ichthyosis, Lamellar*/genetics , Ichthyosis, Lamellar*/therapy , Ichthyosis*/diagnosis , Ichthyosis*/genetics , Ichthyosis*/therapy, Humans ; Quality of Life ; Skin ; Diagnosis, Differential ; Review Literature as Topic

المؤلفون: El Hachem M; Dermatology Unit, Bambino Gesù Children's Hospital-IRCCS, ERN-Skin HCP, Rome, Italy., De Marco R, Soria de Francisco JM, Audouze A, Aldwin-Easton M, Skayem C, Taieb C; Patient Priority, EMMA, Paris, France., Saint Aroman M, Ghienne H, Baissac C, Mazereeuw J, Bodemer C

المصدر: The British journal of dermatology [Br J Dermatol] 2024 Apr 17; Vol. 190 (5), pp. 773-775.

نوع المنشور: Journal Article

بيانات الدورية: Publisher: Oxford University Press Country of Publication: England NLM ID: 0004041 Publication Model: Print Cited Medium: Internet ISSN: 1365-2133 (Electronic) Linking ISSN: 00070963 NLM ISO Abbreviation: Br J Dermatol Subsets: MEDLINE

مواضيع طبية MeSH: Ichthyosis* , Ichthyosis, Lamellar*, Humans ; Quality of Life

المؤلفون: Zaouak A; University Tunis El Manar, Dermatology Department, Habib Thameur Hospital, Research Unit LR12SP03, Tunis, Tunisia. anissa_zaouak@yahoo.fr., Charfeddine C; University Tunis El Manar, Institut Pasteur de Tunis, Biomedical Genomics and Oncogenetics Laboratory LR20IPT05, Tunis, Tunisia.

المصدر: Indian pediatrics [Indian Pediatr] 2024 Apr 15; Vol. 61 (4), pp. 397. Date of Electronic Publication: 2024 Feb 26.

نوع المنشور: Journal Article

بيانات الدورية: Publisher: Indian Pediatrics Country of Publication: India NLM ID: 2985062R Publication Model: Print-Electronic Cited Medium: Internet ISSN: 0974-7559 (Electronic) Linking ISSN: 00196061 NLM ISO Abbreviation: Indian Pediatr Subsets: MEDLINE

مواضيع طبية MeSH: Ichthyosis, Lamellar*, Humans ; Phenotype

المؤلفون: Tan SH; A*STAR Skin Research Labs (A*SRL), Agency for Science, Technology and Research (A*STAR), Singapore., Liu S; School of Chemical and Biomedical Engineering, Nanyang Technological University, Singapore., Teoh SH; College of Materials Science and Engineering, Hunan University, People's Republic of China., Bonnard C; A*STAR Skin Research Labs (A*SRL), Agency for Science, Technology and Research (A*STAR), Singapore; Skin Research Institute of Singapore (SRIS), Singapore., Leavesley D; Skin Research Institute of Singapore (SRIS), Singapore., Liang K; A*STAR Skin Research Labs (A*SRL), Agency for Science, Technology and Research (A*STAR), Singapore; Skin Research Institute of Singapore (SRIS), Singapore. Electronic address: kun_liang@asrl.a-star.edu.sg.

المصدر: Biomaterials advances [Biomater Adv] 2024 Apr; Vol. 158, pp. 213780. Date of Electronic Publication: 2024 Jan 24.

نوع المنشور: Journal Article

بيانات الدورية: Publisher: Elsevier B.V Country of Publication: Netherlands NLM ID: 9918383886206676 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 2772-9508 (Electronic) Linking ISSN: 27729508 NLM ISO Abbreviation: Biomater Adv Subsets: MEDLINE

مواضيع طبية MeSH: Ichthyosis, Lamellar* , Tilapia*, Animals ; Humans ; Skin ; Collagen ; Epidermis ; Collagen Type I ; Mammals