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Autosomal recessive congenital ichthyosis.
Rodríguez-Pazos L, Ginarte M, Vega A, Toribio J. Rodríguez-Pazos L, et al. Actas Dermosifiliogr. 2013 May;104(4):270-84. doi: 10.1016/j.adengl.2011.11.021. Epub 2013 Apr 3. Actas Dermosifiliogr. 2013. PMID: 23562412 Free article. Review. English, Spanish.
The term autosomal recessive congenital ichthyosis (ARCI) refers to a group of rare disorders of keratinization classified as nonsyndromic forms of ichthyosis. This group was traditionally divided into lamellar ichthyosis (LI) and …
The term autosomal recessive congenital ichthyosis (ARCI) refers to a group of rare disorders of keratinization …
Nail involvement in autosomal recessive congenital ichthyosis.
Zaouak A, Chamli A, Ben Mansour N, Jouini W, Fenniche S, Hammami H. Zaouak A, et al. Clin Dermatol. 2022 Jul-Aug;40(4):388-394. doi: 10.1016/j.clindermatol.2022.02.012. Epub 2022 Feb 15. Clin Dermatol. 2022. PMID: 35181410 Review.
Autosomal recessive congenital ichthyosis (ARCI) is a clinically and genetically heterogeneous category of nonsyndromic ichthyosis. ...This stimulated us to conduct a study to describe nail changes in ARCI using a combined literature review and …
Autosomal recessive congenital ichthyosis (ARCI) is a clinically and genetically heterogeneous category of nonsy …
Transglutaminase-1 gene mutations in autosomal recessive congenital ichthyosis: summary of mutations (including 23 novel) and modeling of TGase-1.
Herman ML, Farasat S, Steinbach PJ, Wei MH, Toure O, Fleckman P, Blake P, Bale SJ, Toro JR. Herman ML, et al. Hum Mutat. 2009 Apr;30(4):537-47. doi: 10.1002/humu.20952. Hum Mutat. 2009. PMID: 19241467 Free PMC article. Review.
Autosomal recessive congenital ichthyosis (ARCI) is a heterogeneous group of rare cornification diseases. ...We report 23 novel mutations: 71 (62%) missense; 20 (17%) nonsense; 9 (8%) deletion; 8 (7%) splice-site, and 7 (6%) insertion. The c.877 …
Autosomal recessive congenital ichthyosis (ARCI) is a heterogeneous group of rare cornification diseases. ...We …
[Comèl-Netherton syndrome].
Blaschke S, Möller R, Hausser I, Anton-Lamprecht I, Paul E. Blaschke S, et al. Hautarzt. 1998 Jun;49(6):499-504. doi: 10.1007/s001050050778. Hautarzt. 1998. PMID: 9675580 Review. German.
The Comel-Netherton syndrome is a rare autosomal recessive hereditary disease. A 23-year old female presented with the classical triad of ichthyosis linearis circumflexa, trichorrhexis invaginata with bamboo hairs of up to 12 cm length and atopic diathesis. . …
The Comel-Netherton syndrome is a rare autosomal recessive hereditary disease. A 23-year old female presented with the classic …
The role of PNPLA1 in ω-O-acylceramide synthesis and skin barrier function.
Hirabayashi T, Murakami M, Kihara A. Hirabayashi T, et al. Biochim Biophys Acta Mol Cell Biol Lipids. 2019 Jun;1864(6):869-879. doi: 10.1016/j.bbalip.2018.09.010. Epub 2018 Oct 2. Biochim Biophys Acta Mol Cell Biol Lipids. 2019. PMID: 30290227 Review.
However, the recent finding that mutations in the human PNPLA1 gene are linked to autosomal recessive congenital ichthyosis (ARCI), as well as evidence obtained from biochemical and gene knockout studies, has shed light on the function of this enzyme i …
However, the recent finding that mutations in the human PNPLA1 gene are linked to autosomal recessive congenital ich …
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 …
BACKGROUND: Harlequin Ichthyosis is the most severe variant of congenital autosomal recessive ichthyosis, …
Chanarin-Dorfman syndrome: deficiency in CGI-58, a lipid droplet-bound coactivator of lipase.
Yamaguchi T, Osumi T. Yamaguchi T, et al. Biochim Biophys Acta. 2009 Jun;1791(6):519-23. doi: 10.1016/j.bbalip.2008.10.012. Epub 2008 Nov 12. Biochim Biophys Acta. 2009. PMID: 19061969 Review.
Chanarin-Dorfman syndrome (CDS) is a rare autosomal recessive disease of lipid metabolism; it is associated with congenital ichthyosis typed as non-bullous congenital ichthyosiform erythroderma (NCIE). ...This in turn gives rise to the multiple …
Chanarin-Dorfman syndrome (CDS) is a rare autosomal recessive disease of lipid metabolism; it is associated with congenital …
Harlequin ichthyosis: A medico legal case report & review of literature with peculiar findings in autopsy.
Jilumudi UB. Jilumudi UB. J Forensic Leg Med. 2012 Aug;19(6):352-4. doi: 10.1016/j.jflm.2012.02.019. Epub 2012 Mar 7. J Forensic Leg Med. 2012. PMID: 22847055 Review.
Ichthyosis fetalis or Harlequin ichthyosis is an extremely severe and fatal hereditary skin disorder with an autosomal recessive inheritance. ...To the best of the knowledge, this may be the first report of Harlequin ichthyosis in the forensic l …
Ichthyosis fetalis or Harlequin ichthyosis is an extremely severe and fatal hereditary skin disorder with an autosomal …
Neuroectodermal (CHIME) syndrome: an additional case with long term follow up of all reported cases.
Shashi V, Zunich J, Kelly TE, Fryburg JS. Shashi V, et al. J Med Genet. 1995 Jun;32(6):465-9. doi: 10.1136/jmg.32.6.465. J Med Genet. 1995. PMID: 7666399 Free PMC article. Review.
A new neuroectodermal syndrome (designated CHIME syndrome) was described in 1983 with a total of four patients reported, it is presumed to be an autosomal recessive disorder because of recurrence in sibs. The main features include ocular colobomas, congenital …
A new neuroectodermal syndrome (designated CHIME syndrome) was described in 1983 with a total of four patients reported, it is presumed to b …