Article
Veterinary Sciences
Ana Petak, Ivan-Conrado Sostaric-Zuckermann, Marko Hohsteter, Niksa Lemo
Summary: This study aimed to investigate the clinical and histological effects of isotretinoin on golden retriever dogs with autosomal recessive congenital ichthyosis (ARCI) associated with mutations in the PNPLA1 gene. The results showed that oral isotretinoin treatment was effective in improving ichthyosis without any side-effects.
VETERINARY SCIENCES
(2022)
Review
Pharmacology & Pharmacy
Sheila I. Pena-Corona, Stephany Celeste Gutierrez-Ruiz, Ma de los Dolores Campos Echeverria, Hernan Cortes, Manuel Gonzalez-Del Carmen, Gerardo Leyva-Gomez
Summary: Autosomal recessive congenital ichthyoses (ARCI) is a genetic skin disorder that significantly affects patients' quality of life. Although there are existing treatments, the search for new therapeutic strategies, particularly drug repurposing, is necessary.
FRONTIERS IN PHARMACOLOGY
(2023)
Article
Dermatology
Janan Mohamad, Liat Samuelov, Natalia Malchin, Tom Rabinowitz, Sari Assaf, Liron Malki, Kiril Malovitski, Shirli Israeli, Meital Grafi-Cohen, Ora Bitterman-Deutsch, Vered Molho-Pessach, Eran Cohen-Barak, Gideon Bach, Ben Zion Garty, Reuven Bergman, Avikam Harel, Arti Nanda, Giles G. Lestringant, John McGrath, Stavit Shalev, Noam Shomron, Jacob Mashiah, Marina Eskin-Schwartz, Eli Sprecher, Ofer Sarig
Summary: Autosomal recessive congenital ichthyosis (ARCI) is a rare skin disorder characterized by pathogenic variants in multiple ARCI-associated genes. Our study in Middle Eastern population revealed a higher prevalence of CYP4F22 and ABCA12 pathogenic variants, and lower prevalence of TGM1 and NIPAL4 variants.
EXPERIMENTAL DERMATOLOGY
(2021)
Article
Biochemistry & Molecular Biology
Daria S. Chulpanova, Alisa A. Shaimardanova, Aleksei S. Ponomarev, Somaia Elsheikh, Albert A. Rizvanov, Valeriya V. Solovyeva
Summary: Autosomal recessive congenital ichthyosis (ARCI) is caused by mutations in genes responsible for lipid barrier formation and functioning. Current treatments for ARCI focus on symptomatic relief. Gene and cell therapies show promise in correcting protein activity but are still at an early stage of development.
INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES
(2022)
Article
Dermatology
John C. Freedman, Trevor J. Parry, Peipei Zhang, Avijit Majumdar, Suma Krishnan, Lauren K. Regula, Mark O'Malley, Sarah Coghlan, S. D. Yogesha, Sureshkumar Ramasamy, Pooja Agarwal
Summary: The study found that KB105 gene therapy vector could deliver functional human TGM1 to keratinocytes, restoring enzyme function. Animal studies demonstrated that KB105 could induce TGM1 protein expression in the target epidermal layer without triggering fibrosis, necrosis, or acute inflammation. Toxicity and biodistribution assessments showed that KB105 was well-tolerated and restricted to the dose site.
JOURNAL OF INVESTIGATIVE DERMATOLOGY
(2021)
Article
Medicine, General & Internal
Andrea Dumenigo, Amanda Rusk, Kalyani Marathe
Summary: This article reports a case of a patient with a pathogenic variant and a variant of uncertain significance in the CYP4F22 gene, presenting with a collodion membrane and developing a mild ichthyosis phenotype.
CUREUS JOURNAL OF MEDICAL SCIENCE
(2022)
Article
Dermatology
Leila Youssefian, Fatemeh Niaziorimi, Amir Hossein Saeidian, Andrew P. South, Farzaneh Khosravi-Bachehmir, Sadegh Khodavaisy, Hassan Vahidnezhad, Jouni Uitto
Summary: The study presents clinical and molecular characteristics of 19 patients with autosomal recessive congenital ichthyosis, showing an association with SDR9C7 gene mutation. Downregulation of SDR9C7 expression using RNA technique in skin constructs revealed morphological and histological abnormalities ex vivo. The results suggest that deficiency of SDR9C7 alone is sufficient to disrupt epidermal barrier function leading to ichthyosis.
JOURNAL OF INVESTIGATIVE DERMATOLOGY
(2021)
Article
Genetics & Heredity
Mohamed H. Al-Hamed, Norah Altuwaijri, Nada Alsahan, Wafaa Ali, Firdous Abdulwahab, Fatema Alzahrani, Nada Majrashi, Fowzan S. Alkuraya
Summary: Congenital anomalies of the kidney and urinary tract (CAKUT) are a range of abnormalities affecting the development of the kidneys and urinary tract. This study confirms the role of Nephronectin in renal agenesis in humans and shows that even complete loss of function can result in the formation of a single kidney.
Article
Dermatology
Anissa Zaouak, Amal Chamli, Nadia Ben Mansour, Wafa Jouini, Samy Fenniche, Houda Hammami
Summary: This study aimed to describe the nail changes in autosomal recessive congenital ichthyosis (ARCI). A total of 25 ARCI patients were included in the study, and various nail abnormalities were observed, including periungual hyperkeratosis, xanthonychia, and pachyonychia. The results showed a significantly higher frequency of nail changes in adults compared to children.
CLINICS IN DERMATOLOGY
(2022)
Article
Dermatology
Minu Jose Chiramel, Lydia Mathew, Rekha Athirayath, Aaron Chapla, Dharshini Sathishkumar, Thenmozhi Mani, Sumita Danda, Renu George
Summary: A hospital in Mumbai conducted a study on the genotype of autosomal recessive congenital ichthyosis among patients from the Indian subcontinent, and found pathogenic and likely pathogenic variants in 22 out of 28 patients.
PEDIATRIC DERMATOLOGY
(2022)
Article
Medicine, General & Internal
Sabiha Quazi, Adarshlata Singh, Khalid Khan, Umesh Biyani
Summary: Congenital ichthyosis refers to prenatal epidermal abnormalities, and collodion babies are rare manifestations of this condition. This case report presents the rare occurrence of a full-term female neonate with a translucent collodion membrane at birth. The baby later developed complications, which were managed with intensive care. This report highlights the importance of supportive care and invasive prenatal diagnostics in managing and diagnosing collodion babies.
CUREUS JOURNAL OF MEDICAL SCIENCE
(2023)
Article
Genetics & Heredity
Hanan E. Shamseldin, Nada Derar, Hamad Alzaidan, Naif AlHathal, Abdullah Alfalah, Firdous Abdulwahab, Tariq Alzaid, Salim Alkeraye, Saud A. Alobaida, Fowzan S. Alkuraya
Summary: This article reports two consanguineous families with congenital ichthyosis, and identifies novel homozygous likely deleterious variants in PRSS8 through positional mapping and exome sequencing. The variant affecting canonical splice site was associated with reduced abundance of the normal transcript, while the missense variant altered a highly conserved residue. The phenotype observed in Prss8 knockout mice resembles the symptoms in human patients, suggesting a novel PRSS8-related ichthyosis disorder.
Article
Dermatology
Lina Zhao, Caixia Wang, Yaning Zhang, Jinyun Li, Huize Liu, Dairong Feng
Summary: This study identified compound heterozygous mutations in the CYP4F22 gene as the cause of congenital ichthyosis in a Chinese neonatal boy. The mutations were classified as pathogenic based on in silico analyses and in vitro functional studies, which also showed that the mutant protein levels could be restored by trichostatin A (TSA) treatment.
JOURNAL OF DERMATOLOGY
(2022)
Article
Medicine, Research & Experimental
Niccolo E. Mencacci, Marisa M. Brockmann, Jinye Dai, Sander Pajusalu, Burcu Atasu, Joaquin Campos, Gabriela Pino, Paulina Gonzalez-Latapi, Christopher Patzke, Michael Schwake, Arianna Tucci, Alan Pittman, Javier Simon-Sanchez, Gemma L. Carvill, Bettina Balint, Sarah Wiethoff, Thomas T. Warner, Apostolos Papandreou, Audrey Soo, Reet Rein, Liis Kadastik-Eerme, Sanna Puusepp, Karit Reinson, Tiiu Tomberg, Hasmet Hanagasi, Thomas Gasser, Kailash P. Bhatia, Manju A. Kurian, Ebba Lohmann, Katrin Ounap, Christian Rosenmund, Thomas C. Sudhof, Nicholas W. Wood, Dimitri Krainc, Claudio Acuna
Summary: The study found that variants in the TSPOAP1 gene can lead to autosomal recessive dystonia in 7 patients from different families. The results indicate that these variants affect neurotransmission, potentially leading to the development of dystonia.
JOURNAL OF CLINICAL INVESTIGATION
(2021)
Article
Genetics & Heredity
Fatima Alabdulrazzaq, Talal Alanzi, Haya H. H. Al-Balool, Alice Gardham, Emma Wakeling, Harry G. G. Leitch, Moeenaldeen AlSayed, Maha Abdulrahim, Abdulaziz Aladwani, Antonio Romito, Kapil Kampe, Sacha Ferdinandusse, Ashraf H. H. Aboelanine, Amira Abdullah, Amal Alwadani, Laila Bastaki, Frederic M. Vaz, Aida M. M. Bertoli-Avella, Dana Marafi
Summary: VLCFAs are essential for the synthesis of cell membranes in the brain, skin, and retina. Variants in the ELOVL4 gene are associated with Mendelian disorders such as macular dystrophy, spinocerebellar ataxia, and congenital ichthyosis. The study identified three novel homozygous ELOVL4 variants, including a tribal founder mutation in two unrelated Saudi families.
MOLECULAR GENETICS & GENOMIC MEDICINE
(2023)
Article
Oncology
Gil Bar-Sela, Sharon Avgush, Orit Kaidar-Person, Alex Beny, Valeriya Semenisty, Yael Liel, Reuven Bergman, Ziad Khamaysi
Letter
Dermatology
Z. Khamaysi, E. Sprecher, R. Bergman
BRITISH JOURNAL OF DERMATOLOGY
(2016)
Letter
Dermatology
D. Vodo, O. Sarig, D. Jeddah, N. Malchin, M. Eskin-Schwarz, J. Mohamad, T. Rabinowitz, I. Goldberg, N. Shomron, Z. Khamaysi, R. Bergman, E. Sprecher
BRITISH JOURNAL OF DERMATOLOGY
(2018)
Article
Dermatology
Algit Yeshurun, Reuven Bergman, Naji Bathish, Ziad Khamaysi
AUSTRALASIAN JOURNAL OF DERMATOLOGY
(2019)
Article
Dermatology
Khalaf Kridin, Nadav Pam, Reuven Bergman, Ziad Khamaysi
DERMATOLOGIC THERAPY
(2020)
Review
Dermatology
Brigitte Dreno, Elena Araviiskaia, Delphine Kerob, Anneke Andriessen, Maryna Anfilova, Monika Arenbergerova, Olga L. Forero Barrios, Zrinka Bukvic Mokos, Merete Haedersdal, Maja A. Hofmann, Ziad Khamaysi, Marita Kosmadaki, Aleksandra Lesiak, Elia Roo, Anca Zbranca-Toporas, Marni C. Wiseman, Sameer Zimmo, Lucie Guerin, Gabriella Fabbrocini
JOURNAL OF COSMETIC DERMATOLOGY
(2020)
Article
Dermatology
Nadav Pam, Khalaf Kridin, Ziad Khamaysi
Summary: Propranolol is highly effective in the treatment of infantile hemangioma, with early initiation associated with better response. No definitive predictors of rebound growth after discontinuation of the drug were identified.
DERMATOLOGIC THERAPY
(2021)
Letter
Dermatology
Salih Mishlab, Emily Avitan-Hersh, Ziad Khmaysi
DERMATOLOGIC SURGERY
(2021)
Review
Dermatology
Khamaysi Ziad, Jiryis Badi, Zoabi Roaa, Avitan-Hersh Emily
Summary: In this article, the use of energy-based devices in the treatment of infantile hemangiomas (IH) is reviewed, and the authors share their experience of treating dozens of cases over the years. Various laser systems with different wavelengths and penetration depths are used for the treatment of hemangiomas and vascular tumors, and in some cases, multiple lasers can be applied during the treatment process.
JOURNAL OF COSMETIC DERMATOLOGY
(2023)
Article
Multidisciplinary Sciences
Z. Khamaysi, N. Pam, H. Zaaroura, E. Avitan-Hersh
Summary: This study aimed to evaluate the safety and efficacy of long pulsed Nd:YAG 1064 nm laser in treating residual infantile hemangiomas (IH) after systemic propranolol treatment. The results showed that the treatment with long pulsed Nd:YAG 1064 nm laser was effective and safe for IH that did not respond well to propranolol. It is suggested as a second-line treatment for IH patients with sub-optimal aesthetic results following systemic propranolol.
SCIENTIFIC REPORTS
(2023)
Article
Medicine, General & Internal
Anan Hammud, Emily Avitan-Hersh, Ziad Khamaysi
Summary: This study aimed to compare the clinical characteristics, course of the disease, comorbidities, and response to treatment between Arab and Jewish patients with HS. The results showed differences in incidence and gender predominance between the two ethnic groups, but no differences in comorbidities and response to adalimumab.
JOURNAL OF CLINICAL MEDICINE
(2023)
Article
Microbiology
Joel Dascalu, Hiba Zaaroura, Yael Renert-Yuval, Ziyad Khamaysi, Emily Avitan-Hersh, Rivka Friedland
Summary: Pediatric tinea capitis has a variable prevalence, with T. tonsurans being the most common causative pathogen in our population. A retrospective study of 456 pediatric patients diagnosed with tinea capitis revealed an increase in the incidence of T. tonsurans and the stability of M. canis. Terbinafine showed the highest efficacy in treating T. tonsurans, achieving complete clinical clearance in 95% of patients. The mycological cure rate was 68% in patients with available data, with an average treatment duration of 10 weeks.
Article
Dermatology
Orna Mirmovich Morvay, Michal Ramon, Ziad Khamaysi, Emily Avitan-Hersh
Summary: This study reviewed the data of 37 paediatric patients with mycosis fungoides treated at Rambam Medical Center, Israel, between 2013 and 2021. The results showed that mycosis fungoides is rare in the paediatric population and most patients had a favorable response to phototherapy.
ACTA DERMATO-VENEREOLOGICA
(2023)
Article
Dermatology
B. Jiryis, E. Avitan-Hersh, O. Mirmovich, M. Judith Nevet, Z. Khamaysi
Summary: This study aimed to evaluate the efficacy of combined treatment with Er:YAG and long-pulsed Nd:YAG lasers compared to Er:YAG laser alone for the treatment of recalcitrant warts after one session. The results showed that the clearance rate was significantly higher in the combined laser treatment group compared to the Er:YAG laser group.
JOURNAL OF THE EUROPEAN ACADEMY OF DERMATOLOGY AND VENEREOLOGY
(2023)
Article
Dermatology
Batheesh Ramzy, Avitan-Hersh Emily, Badi Jiryis, Khamaysi Ziad
Summary: Nd:YAG 1064 nm laser therapy is safe and effective for the management of mild-to-moderate onychomycosis. Pain and discomfort were assessed during the treatment process, and mycological and clinical cure rates were evaluated after 3 months. The study suggests that laser therapy shows promise as a treatment option for onychomycosis.
