Infantile erythrodermic psoriasis: A case report and review of the literature
Indian Journal of Paediatric Dermatology, 2017 Erythroderma in infants can be attributed to plenty of causes, the more common ones being nonbullous congenital ichthyosiform erythroderma, lamellar ichthyosis, bullous congenital ichthyosiform erythroderma, severe atopic dermatitis, etc., However, there
Piyush Kumar, Anupam Das, Shvetha Jain
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Lamellar ichthyosis–like eruption associated with ponatinib
Acta Dermatovenerologica Alpina Pannonica et Adriatica, 2016 [Abstract Not Available]
Örenay, Özge Mine +3 more
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Mutations in TGM6 induce the unfolded protein response in SCA35 [PDF]
, 2017 Spinocerebellar ataxia type 35 (SCA35) is a rare autosomal-dominant neurodegenerative disease caused by mutations in the TGM6 gene, which codes for transglutaminase 6 (TG6). Mutations in TG6 induce cerebellar degeneration by an unknown mechanism.
Aeschlimann, Daniel +16 more
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Biological functionalities of Transglutaminase 2 and the possibility of its compensation by other members of the transglutaminase family [PDF]
, 2014 Transglutaminase 2 (TG2) is the most widely distributed and most abundantly expressed member of the transglutaminase family of enzymes, a group of intracellular and extracellular proteins that catalyze the Ca2+-dependent post-translational modification ...
Coussons, Peter J., Odii, Benedict O.
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Oral acitretin treatment in severe congenital ichthyosis of the neonate
The Turkish Journal of Pediatrics, 2002 Two newborn infants with ichthyosis, one with lamellar ichthyosis and one with nonbullous ichthyosis form erythroderma, who presented at birth with a collodion baby appearance, were treated with acitretin (1 mg/kg/day).
Z Nurhan Saraçoğlu +4 more
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Ichthyosis associated with rickets in two Indian children
Indian Journal of Dermatology, 2013 We wish to report two cases of rickets due to vitamin D deficiency secondary to underlying ichthyotic skin disorder. The first case is of an 8-year-old male with history of multiple fluid-filled lesions over the body that would rupture to heal with ...
Dimple Kothari +3 more
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The roles of ABCA12 in keratinocyte differentiation and lipid barrier formation in the epidermis [PDF]
, 2011 ABCA12 is a member of the large superfamily of ATP-binding cassette (ABC) transporters, which bind and hydrolyze ATP to transport various molecules across limiting membranes or into vesicles.
Akiyama, Masashi
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Long and very long lamellar phases in model stratum corneum lipid membranes
Journal of Lipid Research, 2019 Membrane models of the stratum corneum (SC) lipid barrier, either healthy or affected by recessive X-linked ichthyosis, constructed from ceramide [Cer; nonhydroxyacyl sphingosine N-tetracosanoyl-d-erythro-sphingosine (CerNS24) alone or with omega-O ...
Petra Pullmannová +7 more
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Corneal Perforation as a Rare Ocular Manifestation in Lamellar Ichthyosis: Case Report and Literature Review. [PDF]
Indian Dermatol Online J, 2023 Peyman A +3 more
europepmc +1 more source
Lamellar icthyosis with bilateral cicatricial ectropion: Case report with review of the literature
Medical Journal of Dr. D.Y. Patil University, 2015 Lamellar ichthyosis (LI), is a rare genodermatoses, that appears at birth and continues throughout a person's life with an autosomal recessive mode of inheritance.
Sonia P Jain
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