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The hands in health and disease of individuals with filaggrin loss‐of‐function mutations: clinical reflections on the hand eczema phenotype
Author(s) -
Kaae Jeanette,
Menné Torkil,
Carlsen Berit C.,
Zachariae Claus,
Thyssen Jacob P.
Publication year - 2012
Publication title -
contact dermatitis
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.524
H-Index - 96
eISSN - 1600-0536
pISSN - 0105-1873
DOI - 10.1111/j.1600-0536.2012.02130.x
Subject(s) - filaggrin , phenotype , hand eczema , medicine , dermatology , clinical phenotype , loss function , disease , allergy , immunology , genetics , pathology , atopic dermatitis , contact dermatitis , biology , gene
During the last 2 years, we have performed filaggrin genotyping in patients with eczema seen in our hand eczema clinic. We present pictures of healthy and diseased hands from individuals with filaggrin gene ( FLG ) mutations to describe a clinical entity of hand eczema. We show that xerosis and hyperkeratosis on the dorsal aspects of the hands and fingers, as well as palmar hyperlinearity, should alert the clinician about a possible inherited barrier abnormality of the skin resulting from FLG mutations. The series of photographs range from the hands of an individual with FLG mutations but no history of eczema, to the hands of individuals with typical and atypical filaggrin hand eczema, and finally to the hands of an individual with FLG mutations and hand eczema caused by exposure to irritants and allergens. We briefly discuss this possible subtype of hand eczema, present pathomechanisms, and indicate the signs that should alert the clinicians about a possible inherited skin barrier defect.