Continual skin peeling syndrome. An electron microscopic study

A Homozygous Missense Mutation in TGM5 Abolishes Epidermal Transglutaminase 5 Activity and Causes Acral Peeling Skin Syndrome

“…Interestingly, we have excluded the TGM5 locus in a large, consanguineous kindred of Middle Eastern origin with more widespread peeling skin and, in addition, have also failed to detect TGM5 mutations in three small, outbred families with widespread peeling skin phenotypes (Andrew J. Cassidy and W. H. Irwin Mc-Lean, unpublished data). In all these families, the age of onset was in infancy and the phenotype was similar to the classical, generalized form of PSS described elsewhere (Kurban and Azar 1969;Levy and Goldsmith 1982;Abdel-Hafez et al 1983;Silverman et al 1986;Mevorah et al 1987;Judge et al 2004). One of the small outbred families was reported elsewhere in the literature (Levy and Goldsmith 1982).…”

“…One of the small outbred families was reported elsewhere in the literature (Levy and Goldsmith 1982). Thus, PSS is both clinically and genetically heterogeneous, as is suggested from diversity in clinical appearance reported in the literature (Kurban and Azar 1969;Levy and Goldsmith 1982;Abdel-Hafez et al 1983;Silverman et al 1986;Mevorah et al 1987;Shwayder et al 1997;Hashimoto et al 2000;Judge et al 2004). The causative genes in the cases presenting with generalized peeling skin may shed further light on the preferred cross-linking substrates for the epidermal TGs, particularly TG5, as well as the key protein-protein interactions that are necessary to maintain epidermal structural integrity and the important barrier function performed by the outermost layers of the epidermis.…”

Facial peeling skin syndrome: A case report and a brief review

“…Histopathology of PSS usually reveals hyperkeratosis and splitting of the epidermis between the granular layer and the stratum corneum as observed in this particular case report. In another case, intracellular, cytoplasmic splitting was noted in the lower stratum corneum 1,5 …”

Peeling skin syndrome associated with novel variant in FLG2 gene

“…PSS is a very rare autosomal recessive disorder, with onset at birth or during childhood, and is characterized by asymptomatic and continuous shedding or peeling of the skin in large sheets. PSS is generally classified into two types: non‐inflammatory (type A) and inflammatory (type B) (Mevorah, Frenk, Saurat, & Siegenthaler, ; Silverman, Ellis, Beals, & Woo, ). However, a third variant has also been identified: acral PSS, where peeling occurs mostly on the hands and feet.…”