Results 81 to 90 of about 363,235 (161)

Dupilumab Reduces Pruritus in Twins With Sjögren–Larsson Syndrome

Pediatric Dermatology, Volume 43, Issue 2, Page 395-397, March/April 2026.
ABSTRACT Sjögren–Larsson Syndrome (SLS), now termed ALDH3A2‐syndromic epidermal differentiation disorder (sEDD), is a rare genetic disorder marked by thickened skin, spasticity, and intellectual disability. Intractable pruritus is a nearly universal and debilitating feature of SLS that remains poorly managed by current therapies. We describe 4‐year‐old
Kennedy Gallagher, Rame Yousif, Kathryn Hummel, Amy S. Paller   +3 more
wiley   +1 more source

Spectrum of autosomal recessive congenital ichthyosis in Scandinavia: clinical characteristics and novel and recurrent mutations in 132 patients [PDF]

, 2016
Autosomal recessive congenital ichthyosis (ARCI) represents a heterogeneous group of rare disorders of cornification with 3 major subtypes: harlequin ichthyosis (HI), lamellar ichthyosis (LI) and congenital ichthyosiform erythroderma (CIE). A 4th subtype
Pigg, M., Vahlquist, A., Gånemo, Agneta, Brandrup, Flemming, Hotz, A., Fischer, Judith, Bygum, A., Virtanen, M., Zimmer, Andreas D.   +8 more
core   +2 more sources

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

A Mutation in LIPN, Encoding Epidermal Lipase N, Causes a Late-Onset Form of Autosomal-Recessive Congenital Ichthyosis [PDF]

, 2011
Autosomal-recessive congenital ichthyoses represent a large and heterogeneous group of disorders of epidermal cornification. Recent data suggest that most of these disorders might result from defective lipid transport and metabolism. In the present study,
Sprecher, Eli, Ofer Sarig, Shirli Israeli, Eli Sprecher, Ziyad Khamaysi, Nousbeck, Janna, Israeli, Shirli, Sarig, Ofer, Janna Nousbeck, Reuven Bergman, Khamaysi, Ziyad, Fuchs-Telem, Dana, Dana Fuchs-Telem, Bergman, Reuven   +13 more
core   +1 more source

Dorfman-Chanarin syndrome: An unusual presentation

Indian Journal of Paediatric Dermatology, 2019
Dorfman-Chanarin syndrome is a rare autosomal recessive neutral lipid storage disorder with congenital ichthyosis characterized by triglyceride deposition in multiple organs.
Anupa Mary Job, Vijay Aithal, Carol Lobo, A M Shanthala Devi   +3 more
doaj   +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

Incomplete Netherton Syndrome treated successfully with Isotretinoin

Clinical Dermatology Review
Netherton syndrome is a rare autosomal recessive ichthyosis caused by serine peptidase inhibitor Kazal 5 mutation, characterized by congenital ichthyosis, trichorrhexis invaginata, atopy, high serum immunoglobulin E levels, and hyper eosinophilia.
Saritha Mohanan, Shamma Aboobacker, Kaliaperumal Karthikeyan   +2 more
doaj   +1 more source

Two cases of autosomal recessive congenital ichthyosis due to CYP4F22 mutations: Expanding the genotype of self-healing collodion baby

, 2018
Collodion babies are born with a tight, shiny cast that sheds in a few weeks. After shedding, most patients will display features of autosomal recessive congenital ichthyosis (ARCI) later in life but in up to 10% of cases, the skin eventually becomes ...
Maldonado-Cid, Paola, Kamsteeg, Erik-Jan, García-Miñaur, Sixto, Torrelo, Antonio, Hernández-Martín, Angela, Noguera-Morel, Lucero, De Lucas-Laguna, Raúl, González-Sarmiento, Rogelio, Feito-Rodríguez, Marta   +8 more
core   +1 more source

Proteomic manifestations of genetic defects in autosomal recessive congenital ichthyosis [PDF]

, 2019
Numerous genetic conditions give rise to a scaly skin phenotype as a result of impaired barrier function. Present work investigates the degree to which the departure from normal of ichthyosis corneocytes on the skin surface depends upon the basic defect ...
Rice, Robert H, Karim, Noreen, Salemi, Michelle, Rocke, David M, Phinney, Brett S, Naeem, Muhammad, Durbin-Johnson, Blythe   +6 more
core   +1 more source

Case Report: Dental treatment under general anesthesia and dental management of a child with congenital ichthyosis

Frontiers in Dental Medicine
Congenital ichthyosis is a disease in which the stratum corneum on the surface of the skin becomes thick from the time of the fetus and the barrier function of the skin is impaired.
Ryoko Hino, Yuta Chiba, Yuriko Maruya, Manami Tadano, Shinji Otake, Seira Hoshikawa, Yoji Sasahara, Kan Saito   +7 more
doaj   +1 more source