Results 71 to 80 of about 363,235 (161)

Maximal use of 0.05% topical isotretinoin in patients with congenital ichthyosis results in low systemic exposure

British Journal of Clinical Pharmacology, Volume 92, Issue 4, Page 1256-1260, April 2026.
Abstract Congenital ichthyoses (CI) are rare, inherited skin disorders characterized by hyperkeratosis, scaling and fissuring that significantly impair patients' quality of life. Treatment options are limited, with systemic retinoids reserved for severe cases owing to their adverse effect profile.
Holm Schneider, Christopher G. Bunick, Kathrin Hillmann, Thy N. Huynh, Steven Kempers, Nicolai Peschel, Ulrike Blume‐Peytavi, Joyce M. C. Teng, Alan M. Mendelsohn, John Stinson, Lara Wine Lee   +10 more
wiley   +1 more source

White Matter Diseases YES, Multiple Sclerosis NO, Sjogren - Larsson Syndrome: Another Differential Diagnosis of Multiple Sclerosis

Caspian Journal of Neurological Sciences, 2015
Sjogren-Larsson Syndrome (SLS) is an inherited autosomal recessive neurocutaneous disorder with congenital ichthyosis, spastic diplegia or quadriplegia and mental retardation.
Karim Nikkhah, Ali Ghabeli-Juibary, Shadi Zamanian   +2 more
doaj  

Topical Isotretinoin (TMB-001) Treatment for 12 Weeks Did Not Result in Clinically Relevant Laboratory Abnormalities in Participants with Congenital Ichthyosis in the Phase 2b CONTROL Study

Dermatology and Therapy, 2023
Introduction Treatment with oral retinoids can be effective in patients with congenital ichthyosis (CI) but may be associated with clinically significant laboratory changes. In this Phase 2b CONTROL study analysis, we characterize the effects of TMB-001,
Kalyani Marathe, Joyce M. C. Teng, Scott Guenthner, Christopher G. Bunick, Steven Kempers, Kimmie Eads, Leslie Castelo-Soccio, Alan M. Mendelsohn, Jessica Raiz, Dédée F. Murrell   +9 more
doaj   +1 more source

Dupilumab for Trichothiodystrophy—Case Report and Review of the Literature

Clinical Case Reports, Volume 14, Issue 4, April 2026.
ABSTRACT Trichothiodystrophy (TTD) arises from pathogenic changes in several genes, most of which participate in DNA repair or transcriptional and translational processes. Atopic dermatitis may accompany TTD in a minority of cases. Dupilumab can offer a safe and effective treatment option for severe atopic dermatitis in this population.
Julia O'Mahony, Cathal O'Connor
wiley   +1 more source

Harlequin Ichthyosis: Case Report

Revista da Sociedade Portuguesa de Dermatologia e Venereologia, 2019
Harlequin ichthyosis is a rare autosomal recessive congenital disease in which neonates present generalized hyperkeratotic plaques and deep fissures, ectropion, eclabium, malformation of the auricular pavilion and typical facies.
Patrícia A. Couto, Marcela C. Pastore, Jessica C. N. Araújo, Cecilya M. Mota, Caroline A. R. Chirano, Valeria K. A. Ferreira, Sidharta Q. Gadelha, Elaine D. Melo, Patricia C. B. de Melo, Luciana M. Santos   +9 more
doaj   +1 more source

Implementation of an Inherited Diseases Gene Panel to Accelerate Precision Medicine in the South African Public Healthcare System

Molecular Genetics &Genomic Medicine, Volume 14, Issue 4, April 2026.
We developed and implemented a 500‐gene panel for phenotype‐driven genetic testing of Mendelian disorders in South Africa's public healthcare system, achieving a 46% diagnostic yield. This platform supports scalable, cost‐effective rare disease diagnosis and lays the foundation for broader genetic services in resource‐limited settings.
Nadia Carstens, Maria Mudau, Fahmida Essop, Amanda Krause   +3 more
wiley   +1 more source

Transglutaminase 1 deficiency and corneocyte collapse: an indication for targeted molecular screening in autosomal recessive congenital ichthyosis.

, 2007
In an attempt to devise a strategy to identify individuals with TGase1 deficiency, we evaluated 21 Italian patients who had different phenotypes of autosomal recessive congenital ichthyosis using electron microscopy analysis, in situ TGase1 assay, and ...
L. GIORDANO, L. MESSINA, G. TADINI, L. IENO, W. PENNACCHIA, A. VIOLA, AURICCHIO, LUIGI, ESPOSITO, GABRIELLA, PAPARO, FRANCESCO, A. PICCIRILLO   +9 more
core   +1 more source

Mutations in multidomain protein MEGF8 identify a Carpenter syndrome subtype associated with defective lateralization [PDF]

, 2012
Carpenter syndrome is an autosomal-recessive multiple-congenital-malformation disorder characterized by multisuture craniosynostosis and polysyndactyly of the hands and feet; many other clinical features occur, and the most frequent include obesity ...
Gileadi, Opher, Cooper, Christopher D O, Twigg, SR, Beales, PL, McGowan, SJ, Gileadi, O, Jenkins, Dagan, Lloyd, D, Gillessen-Kaesbach, G, Hüning, I, Elçioglu, Nursel E., Hüning, Irina, Wilkie, Andrew O.M., Twigg, Stephen R F, Annagür, Ali, Knight, Samantha, Goodship, JA, Knight, Samantha J L, Cooper, CD, Gillessen-Kaesbach, Gabriele, Jenkins, D, Knight, Samantha J.L., Knight, SJ, Wilkie, AOM, McGowan, Simon J., Twigg, SRF, Beales, Philip L., Lloyd, Deborah, Wilkie, Andrew O M, Al-Sannaa, N, Al-Sannaa, Nouriya, Annagür, A, Twigg, Stephen R.F., Keavney, Bernard D., Knight, SJL, Cooper, CDO, Cooper, Christopher D.O., Elçioglu, NE, Goodship, Judith A., Keavney, BD, Wilkie, AO, Twigg, Stephen R. F., Elçioglu, Nurse E., ELÇİOĞLU, HURİYE NURSEL, J.L. Knight, Samantha, Cooper, Christopher D. O.   +45 more
core   +1 more source

Stratum Corneum Ceramide Abnormalities in Atopic Dermatitis: Pathophysiology and Implications for Disease Management

The Journal of Dermatology, Volume 53, Issue 3, Page 380-387, March 2026.
ABSTRACT The stratum corneum, as the outermost layer of the skin, functions as a critical barrier that maintains cutaneous hydration and systemic homeostasis. Among its structural lipids, ceramides constitute the most abundant and diverse component. These molecules are essential for the formation of lamellar structures that secure barrier integrity ...
Takashi Sakai
wiley   +1 more source

Genetic analysis of limb girdle muscular dystrophy and Miyoshi myopathy [PDF]

, 2003
The autosomal recessive muscular dystrophies encompass limb girdle muscular dystrophy (LGMD) and Miyoshi myopathy (MM), which can show clinical and genetic overlap.
Summerill, Gillian
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