Peeling off the genetics of atopic dermatitis-like congenital disorders

Liat Samuelov, Eli Sprecher

Research output: Contribution to journalArticlepeer-review

Abstract

The epidermis forms during the course of a complex differentiation process known as cornification, which culminates with the formation of the epidermal barrier. The epidermal barrier serves as a vital line of defense against the environment and mainly consists of 3

elements: intracellular keratin filaments, intercellular lipids, and the cornified cell envelope. Adequate epidermal barrier function is also critically dependent on normal shedding of terminally differentiated keratinocytes, a process termed desquamation, which requires the dissolution of cell-cell junctions in the upper granular layers. Although much has been learned about epidermal differentiation through the deciphering of the molecular basis of various cornification disorders, less is currently known about the mechanisms regulating epidermal desquamation and disorders resulting from disruption of this process. Netherton syndrome, peeling skin syndrome type B, and skin dermatitis - multiple severe allergies - metabolic wasting syndrome are 3 autosomal recessive conditions resulting from aberrant regulation of epidermal desquamation. The deciphering of their pathogenesis has not only broadened our understanding of this process but has also shed new light on clinical and mechanistic links between allergic reactions and abnormal desquamation, substantiating the notion that allergic manifestations might, under some circumstances, be the sole consequence of a primary epidermal defect.

Original languageEnglish
Pages (from-to)808-815
Number of pages8
JournalJournal of Allergy and Clinical Immunology
Volume134
Issue number4
DOIs
StatePublished - 1 Oct 2014

Keywords

  • Netherton syndrome
  • and metabolic wasting syndrome
  • corneodesmosin
  • desmoglein 1
  • lymphoepithelial Kazal-type related inhibitor type 5
  • multiple severe allergies
  • peeling skin syndrome type-B
  • skin dermatitis

Fingerprint

Dive into the research topics of 'Peeling off the genetics of atopic dermatitis-like congenital disorders'. Together they form a unique fingerprint.

Cite this