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Page 1
Hair follicles modulate skin barrier function.
Ford NC, Benedeck RE, Mattoon MT, Peterson JK, Mesler AL, Veniaminova NA, Gardon DJ, Tsai SY, Uchida Y, Wong SY. Ford NC, et al. Cell Rep. 2024 Jul 23;43(7):114347. doi: 10.1016/j.celrep.2024.114347. Epub 2024 Jun 26. Cell Rep. 2024. PMID: 38941190 Free PMC article.
Here, we utilize a potent genetic tool to probe barrier function by conditionally ablating a quintessential epidermal barrier gene, Abca12, which is mutated in the most severe skin barrier disease, harlequin ichthyosis. With this tool, we deduced 4 ways by which hai …
Here, we utilize a potent genetic tool to probe barrier function by conditionally ablating a quintessential epidermal barrier gene, Abca12, …
Updated mutational spectrum and genotype-phenotype correlations in ichthyosis patients with ABCA12 pathogenic variants.
Noda T, Takeichi T, Tanahashi K, Ogawa Y, Takeuchi S, Yoshikawa T, Toriyama E, Ashida M, Imakado S, Tsuchihashi H, Okamoto T, Okuno Y, Ogi T, Sugiura K, Kubo A, Muro Y, Suga Y, Ishida-Yamamoto A, Akiyama M. Noda T, et al. Exp Dermatol. 2024 Apr;33(4):e15072. doi: 10.1111/exd.15072. Exp Dermatol. 2024. PMID: 38576105
ARCI mainly consists of congenital ichthyosiform erythroderma (CIE), lamellar ichthyosis (LI) and harlequin ichthyosis (HI). The objective was to determine previously unreported pathogenic variants in ABCA12 and to update genotype-phenotype correlations for patients …
ARCI mainly consists of congenital ichthyosiform erythroderma (CIE), lamellar ichthyosis (LI) and harlequin ichthyosis (HI). T …
Harlequin fetus: A case report.
Londhe MM, Patil TV, Suryawanshi KH. Londhe MM, et al. Indian J Pathol Microbiol. 2022 Apr-Jun;65(2):462-464. doi: 10.4103/IJPM.IJPM_1150_20. Indian J Pathol Microbiol. 2022. PMID: 35435396 Free article.
Harlequin ichthyosis (HI) is the most severe type of congenital ichthyosis. It is extremely rare with very few cases reported in India. ...
Harlequin ichthyosis (HI) is the most severe type of congenital ichthyosis. It is extremely rare with very few cases reported …
Two- and three-dimensional sonographic findings of harlequin ichthyosis: case report and literature review.
Liu Z, Jing C. Liu Z, et al. An Bras Dermatol. 2023 Nov-Dec;98(6):806-813. doi: 10.1016/j.abd.2022.09.013. Epub 2023 Jun 22. An Bras Dermatol. 2023. PMID: 37355352 Free PMC article. Review.
BACKGROUND: Harlequin ichthyosis (HI) is a rare skin disorder with extremely high lethality due to a mutation of the ABCA12 gene. ...
BACKGROUND: Harlequin ichthyosis (HI) is a rare skin disorder with extremely high lethality due to a mutation of the ABCA12 ge …
Juvenile idiopathic arthritis in infants with Harlequin Ichthyosis: two cases report and literature review.
Auriti C, Rotunno R, Diociaiuti A, Manzoni SM, Uva A, Bersani I, Santisi A, Dotta A, El Hachem M. Auriti C, et al. Ital J Pediatr. 2020 Apr 15;46(1):44. doi: 10.1186/s13052-020-0817-5. Ital J Pediatr. 2020. PMID: 32293521 Free PMC article. Review.
BACKGROUND: Harlequin Ichthyosis is the most severe variant of congenital autosomal recessive ichthyosis, associated with severe morbidity and potentially lethal in early life. ...Nonetheless caregivers should be aware of the possible occurrence of Juvenile Idiopath …
BACKGROUND: Harlequin Ichthyosis is the most severe variant of congenital autosomal recessive ichthyosis, associated with seve …
Cross-Sectional Study on Autosomal Recessive Congenital Ichthyoses: Association of Genotype with Disease Severity, Phenotypic, and Ultrastructural Features in 74 Italian Patients.
Diociaiuti A, Corbeddu M, Rossi S, Pisaneschi E, Cesario C, Condorelli AG, Samela T, Giancristoforo S, Angioni A, Zambruno G, Novelli A, Alaggio R, Abeni D, El Hachem M. Diociaiuti A, et al. Dermatology. 2024;240(3):397-413. doi: 10.1159/000536366. Epub 2024 Apr 8. Dermatology. 2024. PMID: 38588653 Free PMC article.
RESULTS: Seventy-four consecutive patients (mean age 11.0 years, range 0.1-48.8) affected with lamellar ichthyosis (50/74, 67.5%), congenital ichthyosiform erythroderma (18/74, 24.3%), harlequin ichthyosis (two/74, 2.7%), and other minor ARCI subtypes (four/74, 5.4% …
RESULTS: Seventy-four consecutive patients (mean age 11.0 years, range 0.1-48.8) affected with lamellar ichthyosis (50/74, 67.5%), congenita …
Prenatal sonographic diagnosis of Harlequin ichthyosis.
Brandão P, Seco S, Loureiro T, Ramalho C. Brandão P, et al. J Clin Ultrasound. 2019 May;47(4):228-231. doi: 10.1002/jcu.22675. Epub 2018 Dec 3. J Clin Ultrasound. 2019. PMID: 30508257
Harlequin ichthyosis is the most severe form of autosomal recessive congenital ichthyoses. ...We report a case of prenatal diagnosis of Harlequin ichthyosis on third-trimester sonographic examination in a consanguineous couple with no history of the di …
Harlequin ichthyosis is the most severe form of autosomal recessive congenital ichthyoses. ...We report a case of prenatal dia …
Guards! Guards! How innate lymphoid cells ensure local law and order.
Häfner SJ. Häfner SJ. Biomed J. 2021 Apr;44(2):105-111. doi: 10.1016/j.bj.2021.04.007. Epub 2021 Apr 27. Biomed J. 2021. PMID: 33994144 Free PMC article.
Finally, we learn that mandibular movement during swallowing increases with the vertical dimension of occlusion, and that early controlled relaxation incisions restore the blood supply to the extremities in harlequin ichthyosis neonates....
Finally, we learn that mandibular movement during swallowing increases with the vertical dimension of occlusion, and that early controlled r …
3D model of harlequin ichthyosis reveals inflammatory therapeutic targets.
Enjalbert F, Dewan P, Caley MP, Jones EM, Morse MA, Kelsell DP, Enright AJ, O'Toole EA. Enjalbert F, et al. J Clin Invest. 2020 Sep 1;130(9):4798-4810. doi: 10.1172/JCI132987. J Clin Invest. 2020. PMID: 32544098 Free PMC article.
The biology of harlequin ichthyosis (HI), a devastating skin disorder caused by loss-of-function mutations in the gene ABCA12, is poorly understood, and to date, no satisfactory treatment has been developed. ...
The biology of harlequin ichthyosis (HI), a devastating skin disorder caused by loss-of-function mutations in the gene ABCA12, …
45 results