Results 81 to 90 of about 5,748 (201)

Clinical and Genetic Characteristics of Free Sialic Acid Storage Disorder

Journal of Inherited Metabolic Disease, Volume 49, Issue 2, March 2026.
ABSTRACT Free sialic acid storage disorder (FSASD) is a lysosomal storage disorder that results from biallelic pathogenic variants in the SLC17A5 gene. This gene codes for sialin, a 12‐transmembrane domain protein that exports the charged sugar N‐acetylneuraminic acid (Neu5Ac; sialic acid) out of the lysosome.
Zoe Wolfenson, Gabriella Grois, Ruth F. Hailemeskel, Marla Sabaii, Laryssa A. Huryn, Wadih M. Zein, Tanya Lehky, Audrey Thurm, Lisa Joseph, Eva H. Baker, Gilbert Vezina, Keith Hyland, Laura Pollard, Ellen Macnamara, Andrea Gropman, May C. Malicdan, William A. Gahl, David R. Adams, Lynne Wolfe   +18 more
wiley   +1 more source

Congenital heart disease in harlequin ichthyosis: Case series

, 2019
Harlequin ichthyosis (HI) is the most severe form of congenital ichthyosis and inherited in an autosomal recessive manner. The disease is marked by severe thickened and scaly skin on the entire body.
Bhupendra Verma, Anand Mohan, Amrita Singh, Abhishek Abhinay   +3 more
core   +1 more source

Identification of mutations in SDR9C7 in six families with autosomal recessive congenital ichthyosis [PDF]

, 2018
Autosomal recessive congenital ichthyosis (ARCI) is a heterogeneous group of disorders of keratinization. To date, ARCI has been associated with following genes: ABCA12, ALOX12B, ALOXE3, CERS3, CYP4F22, NIPAL4, TGM1, PNPLA1 and recently SDR9C7 and ...
C. Fagerberg, Hausser, I, Vestergaard, V, L. Heinz, A. Dragomir, Heinz, Lisa, Hotz, A, Fischer, J, Törmä, Hans, Bourrat, E, Bygum, A; id_orcid, Fagerberg, Christina, Dragomir, Anca, Bygum, Anette, A. Bygum, J. Fischer, A. Vahlquist, A.D. Zimmer, Fischer, Judith, Dragomir, A, Törmä, H, Zimmer, Andreas D., H. Zhang, Hausser, Ingrid, Fagerberg, C; id_orcid, Vahlquist, A, E. Bourrat, M.-A. Rauschendorf, Hotz, Alrun, Bourrat, Emmanuelle, H. Törmä, Rauschendorf, Marc-Alexander, Rauschendorf, M-A, Zimmer, A D, Vestergaard, Vibeke, V. Vestergaard, A. Hotz, Vahlquist, Anders, Zhang, Hanqian, Zhang, H, Heinz, L, I. Hausser   +41 more
core   +1 more source

Invasive ocular surface squamous neoplasia in congenital ichthyosiform erythroderma

TNOA Journal of Ophthalmic Science and Research, 2017
We report an invasive type of ocular surface squamous neoplasia (OSSN) in a patient with congenital ichthyosiform erythroderma. A male patient aged 44 years, with ichthyosis presented with progressively growing right corneal mass, with decreasing vision.
Dhivya Ashok Kumar, Sasikala Nindra Krishna   +1 more
doaj   +1 more source

A case of harlequin ichthyosis treated with isotretinoin [PDF]

, 2014
Harlequin ichthyosis is a rare congenital ichthyosis classified under the category of Autosomal Recessive Congenital Ichthyoses, which also include lamellar ichthyosis and congenital ichthyosiform erythroderma.
Reyes, Melissa, Chang, Laura M
core   +1 more source

A Case Report on Ichthyosis Vulgaris; Ayurvedic View and Management

, 2023
Ichthyosis are a heterogeneous group of Hereditary and acquired disorders of keratinization characterized by the presence of visible scales on skin surface. The word is derived from Greek root for fish – icthys.
Suneeshmon M S, Sunil John Thykkattil, Divin V   +2 more
core   +1 more source

Efficacy of Upadacitinib in a Middle‐Aged Man With Netherton Syndrome Refractory to Dupilumab: A Case Report

The Journal of Dermatology, Volume 53, Issue 5, Page e359-e361, May 2026.
Bo‐Jie Yu, Pei‐Ling Li, Bing‐Sian Lin, Shou‐En Wu, Chih‐Tsung Hung   +4 more
wiley   +1 more source

Congenital ichthyosis : an overview of current and emerging therapies

, 2008
Congenital ichthyosis is a collective name for a group of monogenetic disorders of cornification, sometimes associated with systemic symptoms. There may be an abnormal quality or quantity of scale produced, abnormal thickness of stratum corneum or ...
Virtanen, Marie,, Vahlquist, Anders,, Gånemo, Agneta,   +2 more
core   +1 more source

An ABCA12 missense variant in a Shorthorn calf with ichthyosis fetalis.

, 2019
Two clinical forms of ichthyosis in cattle have been reported, ichthyosis fetalis and congenital ichthyosis. Ichthyosis poses animal welfare and economic issues and the more severe form, ichthyosis fetalis, is lethal.
Eager, K L M, B. A. O'Rourke, A. Bauer, Bauer, Anina, I. M. Häfliger, T. Leeb, C. Drögemüller, Tammen, I, I. Tammen, Häfliger, Irene Monika, O'Rourke, B A, S. A. Woolley, K. L. M. Eager, Drögemüller, Cord, Leeb, Tosso, Woolley, S A   +15 more
core   +1 more source

The Clinical Spectrum of Rare Inherited Ichthyosis in China: A Review of Thirty-five Cases

Acta Dermato-Venereologica
Inherited ichthyosis comprises a spectrum of genetic disorders related to over 50 pathogenic genes. However, there are limited data summarizing the clinical and molecular characteristics of Chinese patients.
Ruiyu Xiang, Xin Huang, Yihe Liu, Shuya Sun, Di Hua, Ran Mo, Yong Yang, Zhiming Chen   +7 more
doaj   +1 more source