The hands in health and disease of individuals with filaggrin loss-of-function mutations: clinical reflections on the hand eczema phenotype.
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.
Department of Dermato-Allergology, Copenhagen University Hospital Gentofte, 2900 Hellerup, Denmark. jkaae@dadlnet.dk
Jeanette
J
Kaae
Torkil
T
Menné
Berit C
BC
Carlsen
Claus
C
Zachariae
Jacob P
JP
Thyssen
D000328:Adult; D002648:Child; D004485:Eczema / Q000235:genetics* / Q000473:pathology; D005260:Female; D000091344:Filaggrin Proteins; D006229:Hand Dermatoses / Q000235:genetics* / Q000473:pathology; D006579:Heterozygote; D006801:Humans; D007381:Intermediate Filament Proteins / Q000235:genetics*; D008297:Male; D008875:Middle Aged; D009154:Mutation; D010641:Phenotype
C000717249:FLG protein, human; D000091344:Filaggrin Proteins; D007381:Intermediate Filament Proteins