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Quoted phrase not found in phrase index: "Peeling skin syndrome 4"
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Peeling skin syndrome in eight cases of four different families from India and Bangladesh.
Sarma N, Boler AK, Bhanja DC. Sarma N, et al. Indian J Dermatol Venereol Leprol. 2012 Sep-Oct;78(5):625-31. doi: 10.4103/0378-6323.100583. Indian J Dermatol Venereol Leprol. 2012. PMID: 22960820 Free article.
Peeling skin syndrome (PSS) is a rare recessively inherited ichthyosiform genodermatoses characterized by superficial skin peeling. ...The later has been subdivided into type A (non-inflammatory) and type B (inflammatory). Eight cases of peeling ski …
Peeling skin syndrome (PSS) is a rare recessively inherited ichthyosiform genodermatoses characterized by superficial s …
The glycan-specific sulfotransferase (R77W)GalNAc-4-ST1 putatively responsible for peeling skin syndrome has normal properties consistent with a simple sequence polymorphisim.
Fiete D, Mi Y, Beranek M, Baenziger NL, Baenziger JU. Fiete D, et al. Glycobiology. 2017 May 1;27(5):450-456. doi: 10.1093/glycob/cwx018. Glycobiology. 2017. PMID: 28204496 Free PMC article.
A recent whole-exome sequencing study identifies (c.229 C > T) in the GalNAc-4-ST1 glycosyltransferase (CHST8) as a disease-causing missense R77W mutation yielding the genodermatosis peeling skin syndrome (PSS) when homozygous. ...Moreover, keratino …
A recent whole-exome sequencing study identifies (c.229 C > T) in the GalNAc-4-ST1 glycosyltransferase (CHST8) as a disease-causin …
A novel pathogenic variant in the corneodesmosin gene causing generalized inflammatory peeling skin syndrome with marked eosinophilia and trichorrhexis invaginata.
Gordon H, Yap P, Hsiao KC, Watson M, Purvis D. Gordon H, et al. Pediatr Dermatol. 2022 Mar;39(2):268-272. doi: 10.1111/pde.14939. Epub 2022 Feb 17. Pediatr Dermatol. 2022. PMID: 35178752 Free PMC article.
Generalized inflammatory peeling skin syndrome (PSS) is a rare autosomal recessive genodermatosis caused by loss-of-function disease-causing variants of the corneodesmosin gene (CDSN), resulting in excessive shedding of the superficial layers of the epidermis …
Generalized inflammatory peeling skin syndrome (PSS) is a rare autosomal recessive genodermatosis caused by loss-of-fun …
Aberrant distribution patterns of corneodesmosomal components of tape-stripped corneocytes in atopic dermatitis and related skin conditions (ichthyosis vulgaris, Netherton syndrome and peeling skin syndrome type B).
Igawa S, Kishibe M, Honma M, Murakami M, Mizuno Y, Suga Y, Seishima M, Ohguchi Y, Akiyama M, Hirose K, Ishida-Yamamoto A, Iizuka H. Igawa S, et al. J Dermatol Sci. 2013 Oct;72(1):54-60. doi: 10.1016/j.jdermsci.2013.05.004. Epub 2013 Jun 1. J Dermatol Sci. 2013. PMID: 23810772
BACKGROUND: Atopic dermatitis (AD), Netherton syndrome (NS) and peeling skin syndrome type B (PSS) may show some clinical phenotypic overlap. ...METHODS: Corneocytes were tape-stripped from a control group (n=12) and a disease group (37 AD cases, 3 IV cases, …
BACKGROUND: Atopic dermatitis (AD), Netherton syndrome (NS) and peeling skin syndrome type B (PSS) may show some clinic …
Adult-onset acral peeling skin syndrome in a non-identical twin: a case report in South Africa.
Mathew R, Omole OB, Rigby J, Grayson W. Mathew R, et al. Am J Case Rep. 2014 Dec 31;15:589-92. doi: 10.12659/AJCR.892110. Am J Case Rep. 2014. PMID: 25549719 Free PMC article.
BACKGROUND: Acral peeling skin syndrome is a rare autosomal recessive disorder in which skin exfoliation is limited to the hands and feet. ...Other systems were normal. Skin biopsy taken from the palms confirmed peeling skin syndrome. The …
BACKGROUND: Acral peeling skin syndrome is a rare autosomal recessive disorder in which skin exfoliation is limited to …
Netherton syndrome with extensive skin peeling and failure to thrive due to a homozygous frameshift mutation in SPINK5.
Geyer AS, Ratajczak P, Pol-Rodriguez M, Millar WS, Garzon M, Richard G. Geyer AS, et al. Dermatology. 2005;210(4):308-14. doi: 10.1159/000084755. Dermatology. 2005. PMID: 15942217
OBJECTIVE: Our objective was to investigate if the erythrodermic variant of peeling skin syndrome is also caused by SPINK5 mutations and to study the consequences of the disease on infantile brain development. METHODS: In an infant with extensive erythroderma …
OBJECTIVE: Our objective was to investigate if the erythrodermic variant of peeling skin syndrome is also caused by SPI …
Peeling skin syndrome with aminoaciduria.
Inamadar AC, Palit A. Inamadar AC, et al. Pediatr Dermatol. 2005 Jul-Aug;22(4):314-6. doi: 10.1111/j.1525-1470.2005.22406.x. Pediatr Dermatol. 2005. PMID: 16060866
A 12-year-old child presented with asymptomatic, noninflammatory, generalized peeling of the skin since early childhood. He was diagnosed as having type A continual peeling skin syndrome. Associated increased excretion of cystine and histidine in the urine ha …
A 12-year-old child presented with asymptomatic, noninflammatory, generalized peeling of the skin since early childhood. He was diagnosed as …