Results 91 to 100 of about 18,577 (227)

An IL-17-dominant immune profile is shared across the major orphan forms of ichthyosis

Journal of Allergy and Clinical Immunology, 2016
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.
A. Paller, Y. Renert-Yuval, M. Oliva, H. Esaki, M. Suprun, T. Huynh, Benjamin Ungar, R. Friedland, Xiangyu Peng, Xiuzhong Zheng, Y. Estrada, J. Krueger, K. Choate, M. Suárez‐Fariñas, E. Guttman‐Yassky   +14 more
semanticscholar   +1 more source

Multiple Carboxylase Deficiency in an Infant Presenting With Severe Metabolic Acidosis and Sepsis‐Like Features: A Case Report and Literature Review

Clinical Case Reports, Volume 14, Issue 7, July 2026.
ABSTRACT Multiple carboxylase deficiency (MCD) is a rare, treatable inborn error of biotin metabolism that may present in children in the first year of life with life‐threatening metabolic crises. We report a 4‐month‐old child presenting with persistent seizures, eczematous rash near the orifices, unjustified loss of hair with baldness, and severe ...
Touqeer Rehman, Riyan Saeed, Muhammad Ahmed Akif Rauf, Luqman Asif, Muhammad Junaid, Muddassir Khalid, Rao Nouman Ali, Umair Ali, Fred Segawa   +8 more
wiley   +1 more source

Enhanced Expression of Genes Related to Xenobiotic Metabolism in the Skin of Patients with Atopic Dermatitis but Not with Ichthyosis Vulgaris.

Journal of Investigative Dermatology, 2018
Previous transcriptome analyses underscored the importance of immunological and skin barrier abnormalities in atopic dermatitis (AD). We sought to identify pathogenic pathways involved in AD by comparing the transcriptomes of AD patients stratified for ...
S. Blunder, S. Kõks, Gea Kõks, E. Reimann, H. Hackl, R. Gruber, Verena Moosbrugger-Martinz, M. Schmuth, S. Dubrac   +8 more
semanticscholar   +1 more source

European S2k guidelines on management of autoimmune blistering diseases in children and adolescents

Journal of the European Academy of Dermatology and Venereology, Volume 40, Issue 7, Page 1137-1161, July 2026.
Autoimmune blistering disorders (AIBDs) in children are rare, challenging to diagnose and treat and often require immunosuppressants. Until now, no paediatric care guidelines existed. The EADV Task Force for AIBDs has developed the consensus‐based recommendations, enabling physicians to adopt a uniform, tailored treatment strategy to improve outcomes ...
A. Nanda, B. Tedbirt, C. Bodemer, M. C. Bolling, M. El Hachem, M. Nikolić, E. Benton, M. Caproni, D. De, D. Didona, K. Drenovska, M. Goebeler, M. Hertl, B. Horváth, M. Kasperkiewicz, D. Kiritsi, M. Larralde, A. V. Marzano, J. Meijer, D. F. Murrell, J. Powell, E. Sprecher, N. S. Chandran, M. M. Tomayko, S. Uzun, N. van Beek, H. Ott, A. Patsatsi, A. Torrelo, A. Welfringer‐Morin, E. Schmidt, P. Joly   +31 more
wiley   +1 more source

Ichthyin (NIPAL4)-autosomal recessive congenital ichthyosis with atopic diathesis: Case report and literature review

Journal of Dermatology and Dermatologic Surgery, 2016
Autosomal recessive congenital ichthyosis (ARCI), is a rare form of ichthyosis with multiple mutations identified. Ichthyin (NIPAL4) gene mutation is identified in about 18% of cases.
Yousef Binamer
doaj   +1 more source

Critical role of keratinocytes and protease‐activated receptor 2 in secondary lymphedema development

Clinical and Translational Medicine, Volume 16, Issue 6, June 2026.
Activated keratinocytes play an important role in the early stage of the pathophysiology of secondary lymphedema through PAR2 signaling. Lymphatic injury‐induced protease activation stimulates keratinocyte PAR2 signaling, driving hyperkeratosis and Th2 inflammation, which can be therapeutically attenuated by teriflunomide. Abstract Background Secondary
Hyeung Ju Park, Sarit Pal, Xizhao Chen, Jinyeon Shin, Gabriela D. García Nores, Jung Eun Baik, Annica Stull‐Lane, Abraham J. Book, Cristina C. Clement, Elizabeth M. Encarnacion, Mark G. Klang, Elyn Riedel, Tafadzwa L. Chaunzwa, Geoffrey E. Hespe, Laura Santambrogio, Michelle Coriddi, Joseph H. Dayan, Babak J. Mehrara, Raghu P. Kataru   +18 more
wiley   +1 more source

Bathing suit ichthyosis

Indian Journal of Paediatric Dermatology, 2018
Bathing suit ichthyosis (BSI) is a rare, autosomal recessive form of congenital ichthyosis. The phenotypic expression of this unique form of ichthyosis is limited to the involvement of bathing suit area owing to the temperature-sensitive mutation of ...
Sahana M Srinivas, Rachana Shekar, Ravi Hiremagalore   +2 more
doaj   +1 more source

Evidence of the high prevalence of neurological disorders in nonsyndromic X‐linked recessive ichthyosis: a retrospective case series

British Journal of Dermatology, 2018
X‐linked recessive ichthyosis (XLI) is a relatively common type of ichthyosis caused by a deficiency in the steroid sulfatase (STS) enzyme. It is the only type of ichthyosis that can be both syndromic and nonsyndromic.
B. Rodrigo‐Nicolás, E. Bueno-Martínez, A. Martín-Santiago, J. Cañueto, A. Vicente, A. Torrelo, L. Noguera‐Morel, A. Duat-Rodríguez, C. Jorge-Finnigan, I. Palacios‐Álvarez, J. García-Hernández, D. Sebaratnam, R. González-Sarmiento, Á. Hernández-Martín   +13 more
semanticscholar   +1 more source

ASPRV1R208M in a patient with a nonsyndromic epidermal differentiation disorder/ichthyosis

JDDG: Journal der Deutschen Dermatologischen Gesellschaft, EarlyView.
Wei Wang, Hiram Larangeira de Almeida, Kilian Eyerich, Cristina Has   +3 more
wiley   +1 more source

Successful Treatment of Grade III Ectropion with Oral Acitretin in an Infant with Lamellar Ichthyosis: A Case Report

Indian Journal of Paediatric Dermatology
Lamellar ichthyosis, a severe form of congenital ichthyosis, is often complicated by ectropion that, if unmanaged, can result in permanent vision loss. We report a 5-month-old infant of lamellar ichthyosis with bilateral grade III ectropion treated with ...
Shreshthangsha Sayan Biswas, Rashid Shahid, Swetalina Pradhan   +2 more
doaj   +1 more source