Bilateral ectropion in a 3 months old baby with lamellar ichthyosis: a rare case report [PDF]
, 2017 Ichthyosiform dermatoses are a group of hereditary disorders characterized by dryness and roughness of the skin with excessive accumulation of epidermal scales.
Kumar, Sweta S. +3 more
core +2 more sources
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
doaj
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
doaj +1 more source
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.
core +4 more sources
The successful treatment of Lamellar Ichthyosis-a plastic surgeons perspective. [PDF]
J Surg Case Rep, 2023 Johnson M, Mowatt C, Scott K.
europepmc +1 more source
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
core +2 more sources
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
doaj +1 more source
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
Oral manifestations of lamellar ichthyosis: A rare case report
Indian Journal of Paediatric Dermatology, 2016 The ichthyoses are a heterogeneous group of disorders with both inherited and acquired forms. Autosomal recessive congenital ichthyosis (ARCI) is a heterogeneous group of disorders that present at birth with the generalized involvement of skin without ...
Keerthi K Nair, G S Kodhandram
doaj +1 more source
Locked-in Scale: Full Manifestation of Lamellar Ichthyosis in an Adult with Serious Physical and Social Impairments. [PDF]
Ann Dermatol, 2023 Yun DK +5 more
europepmc +1 more source