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Quoted phrase not found in phrase index: "Peeling skin syndrome 4"
Page 1
Peeling off the genetics of atopic dermatitis-like congenital disorders.
Samuelov L, Sprecher E. Samuelov L, et al. J Allergy Clin Immunol. 2014 Oct;134(4):808-15. doi: 10.1016/j.jaci.2014.07.061. J Allergy Clin Immunol. 2014. PMID: 25282561 Review.
The epidermis forms during the course of a complex differentiation process known as cornification, which culminates with the formation of the epidermal barrier. ...Although much has been learned about epidermal differentiation through the deciphering of the molecular basis …
The epidermis forms during the course of a complex differentiation process known as cornification, which culminates with the formatio …
Transglutaminase diseases: from biochemistry to the bedside.
Lorand L, Iismaa SE. Lorand L, et al. FASEB J. 2019 Jan;33(1):3-12. doi: 10.1096/fj.201801544R. FASEB J. 2019. PMID: 30593123
Loss of TG function is associated with numerous orphan diseases that affect a relatively small number of individuals: loss of FXIIIa (transamidase-activated form) crosslinking leads to defects in blood coagulation in FXIII deficiency; loss of TG1 and TG5 cross linking leads to de …
Loss of TG function is associated with numerous orphan diseases that affect a relatively small number of individuals: loss of FXIIIa (transa …
PLACK syndrome is potentially treatable with intralipids.
Sawan ZA, Almehaidib A, Binamer Y, Monies D, Alsaleem KA, Aldekhail W, Alkuraya FS, Abanemai M. Sawan ZA, et al. Clin Genet. 2021 Apr;99(4):572-576. doi: 10.1111/cge.13919. Epub 2021 Jan 20. Clin Genet. 2021. PMID: 33410500
Indeed, we initiated this patient on intravenous lipid infusion (Vitalipid; an emulsion of fat-soluble vitamins and lipofundin-MCT/LCT 20%) and the response was dramatic. Following the fourth monthly course of treatment, pruritis disappeared and the skin lesions showed rem …
Indeed, we initiated this patient on intravenous lipid infusion (Vitalipid; an emulsion of fat-soluble vitamins and lipofundin-MCT/LCT 20%) …
Novel TGM5 mutations in acral peeling skin syndrome.
van der Velden JJ, van Geel M, Nellen RG, Jonkman MF, McGrath JA, Nanda A, Sprecher E, van Steensel MA, McLean WH, Cassidy AJ. van der Velden JJ, et al. Exp Dermatol. 2015 Apr;24(4):285-9. doi: 10.1111/exd.12650. Exp Dermatol. 2015. PMID: 25644735
Acral peeling skin syndrome (APSS, MIM #609796) is a rare autosomal recessive disorder characterized by superficial exfoliation and blistering of the volar and dorsal aspects of hands and feet. ...To confirm their pathogenicity, we performed functional analys …
Acral peeling skin syndrome (APSS, MIM #609796) is a rare autosomal recessive disorder characterized by superficial exf …
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. ...
OBJECTIVE: Our objective was to investigate if the erythrodermic variant of peeling skin syndrome is also caused by SPI …
Familial peeling skin syndrome with eosinophilia: clinical, histologic, and ultrastructural study of three cases.
Janin A, Copin MC, Dubos JP, Rouland V, Delaporte E, Blanchet-Bardon C. Janin A, et al. Arch Pathol Lab Med. 1996 Jul;120(7):662-5. Arch Pathol Lab Med. 1996. PMID: 8757472
Blisters and eosinophilia resolved in 3 weeks, and there was no recurrence during 4 and 6 years of follow-up in two of the patients. CONCLUSION: Peeling skin syndrome is a rare blistering disorder of the newborn that should be recognized because it has a good …
Blisters and eosinophilia resolved in 3 weeks, and there was no recurrence during 4 and 6 years of follow-up in two of the patients. CONCLUS …