Results 91 to 100 of about 3,562 (228)

LEKTI proteolytic processing in human primary keratinocytes, tissue distribution and defective expression in Netherton syndrome [PDF]

, 2017
SPINK5, encoding the putative multi-domain serine protease inhibitor LEKTI, was recently identified as the defective gene in the severe autosomal recessive ichthyosiform skin condition, Netherton syndrome (NS). Using monoclonal and polyclonal antibodies,
Al Saati, Talal, Bitoun, Emmanuelle, Bodemer, Christine, Bonnart, Chrystelle, Boralevi, Franck, Cobbold, Christian, D'Alessio, Marina, Harper, John, Hohl, Daniel, Hovnanian, Alain, Lamant, Laurence, Mariotti, Feliciana, Mazereeuw-Hautier, Juliette, Micheloni, Alessia, Tartaglia-Polcini, Alessandro   +14 more
core  

LAMELLAR ICHTHYOSIS: ONE CASE REPORT

International Journal of Medical Reviews and Case Reports, 2019
Introduction: Ichthyosis is a heterogeneous group of skin disease characterized by generalized scaling. Lamellar ichthyosis is an autosomal recessive disorder with a mutation in the TGM 1 gene encodes the transglutaminase I protein was found. The scales reflect changes in epidermal differentiation.
openaire   +3 more sources

Human genetic defects of sphingolipid synthesis

Journal of Inherited Metabolic Disease, Volume 48, Issue 1, January 2025.
Abstract Sphingolipids are ubiquitous lipids, present in the membranes of all cell types, the stratum corneum and the circulating lipoproteins. Autosomal recessive as well as dominant diseases due to disturbed sphingolipid biosynthesis have been identified, including defects in the synthesis of ceramides, sphingomyelins and glycosphingolipids.
Patricia Dubot, Frédérique Sabourdy, Thierry Levade   +2 more
wiley   +1 more source

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
doaj   +1 more source

Accumulation of ether phospholipids in induced pluripotent stem cells and oligodendrocyte‐lineage cells established from patients with Sjögren‐Larsson syndrome

Congenital Anomalies, Volume 65, Issue 1, January/December 2025.
Abstract Sjögren‐Larsson syndrome (SLS) is an autosomal recessive leukodystrophy characterized by ichthyosis, intellectual disability, and progressive spastic paralysis caused by biallelic pathogenic variants in the ALDH3A2 gene that encodes the fatty aldehyde dehydrogenase, fatty aldehyde dehydrogenase (FALDH); FALDH catalyzes several metabolic ...
Yu Yamaguchi, Hironobu Okuno, Suzumi Tokuoka, Yoshihiro Kita, Tsukasa Sanosaka, Jun Kohyama, Kenji Kurosawa, Norio Sakai, Fuyuki Miya, Takao Takahashi, Kenjiro Kosaki, Hideyuki Okano   +11 more
wiley   +1 more source

Positive selection in Europeans and East-Asians at the ABCA12 gene [PDF]

, 2019
Natural selection acts on genetic variants by increasing the frequency of alleles responsible for a cellular function that is favorable in a certain environment.
Andolfi, G., Antonini, D., Ayub, Q., Buonaiuto, M., Colonna, V., D'Angelo, G., Guardiola, O., Kumar, H., Missero, C., Petrella, V., Salvemini, M., Sirica, R., Sticco, L., Tramontano, D., Tyler-Smith, C., Xue, Y.   +15 more
core   +2 more sources

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, Bhavana Doshi, Gaurav Garg, Uday S Khopkar   +3 more
doaj   +1 more source

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, Neslihan Tekin, Selim M Urer, Ilham Sabuncu, Arif Akşit   +4 more
doaj  

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

Congenital Ichthyosis in a Nigerian preterm neonate: A case report and review of the literature [PDF]

, 2016
Congenital ichthyoses are relatively uncommon skin disorder s wi th worldwide occurrence. The ichthyoses are heterogenous disorders of keratinisation characterised by scaling of the skin of varying severity.
Ademolu, AO, Alli-Balogun, SA, Kuponiyi, OT, Ogunfowora, OB, Ogunlesi, TA   +4 more
core   +2 more sources