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(peeling skin syndrome)
100 results
  • Peeling Skin Syndrome: A Pathologically Invisible Dermatosis. [Case Reports]
    J Microsc Ultrastruct 2019 Jul-Sep; 7(3):141-142El Hanbuli HM, Elmahdi MH, Kamal N
  • Peeling skin syndrome is a relatively rare clinical case with pathology of apparently normal skin that needs clinical details to reach accurate diagnoses. Hence, this case was used as examples to declare how it is important for both the pathologist and the dermatologist to cooperate to reach an accurate diagnosis.
  • A novel homozygous nonsense mutation in CAST associated with PLACK syndrome. [Journal Article]
    Cell Tissue Res 2019Temel ŞG, Karakaş B, … Yakıcıer MC
  • Peeling skin syndrome is a heterogeneous group of rare disorders. Peeling skin, leukonychia, acral punctate keratoses, cheilitis and knuckle pads (PLACK syndrome, OMIM616295) is a newly described form of PSS with an autosomal recessive mode of inheritance. We report a 5.5-year-old boy with features of PLACK syndrome. Additionally, he had mild cerebral atrophy and mild muscle involvements. Whole e…
  • Exome-based search for recurrent disease-causing alleles in Russian population. [Journal Article]
    Eur J Med Genet 2019; 62(7):103656Yanus GA, Akhapkina TA, … Imyanitov EN
  • Exomes of 27 Russian subjects were analyzed for the presence of medically relevant alleles, such as protein-truncating variants (PTVs) in known recessive disease-associated genes and pathogenic missense mutations included in the ClinVar database. 36 variants (24 PTVs and 12 amino acid substitutions) were identified and then subjected to the analysis in 897 population controls. 9/36 mutations were…
  • Transglutaminase diseases: from biochemistry to the bedside. [Journal Article]
    FASEB J 2019; 33(1):3-12Lorand L, Iismaa SE
  • In humans, 9 members of the transglutaminase (TG) family have been identified, of which 8 [factor XIII (FXIII)A and TG1-TG7] catalyze post-translational protein-modifying reactions, and 1 does not (protein 4.2). The TG enzymatic activities considered in our discussion of human disease include deamidation of glutamine (Gln) residues, amine incorporation into Gln residues, and protein crosslinking.…
  • Peeling Skin Disorders: A Paradigm for Skin Desquamation. [Comment]
    J Invest Dermatol 2018; 138(8):1689-1691Has C
  • Epidermal desquamation is the highly regulated process of invisible shedding of corneocytes from the outermost layers of the stratum corneum. This occurs through the interplay between proteases and their inhibitors that control the degradation of corneodesmosomes. Skin peeling refers to exaggerated visible superficial desquamation and can occur in inherited and acquired conditions. The illuminati…
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