The hands in health and disease of individuals with filaggrin loss-of-function mutations: clinical reflections on the hand eczema phenotype

TY - JOUR

T1 - The hands in health and disease of individuals with filaggrin loss-of-function mutations

T2 - clinical reflections on the hand eczema phenotype

AU - Kaae, Jeanette

AU - Menné, Torkil

AU - Carlsen, Berit C

AU - Zachariae, Claus

AU - Thyssen, Jacob P

N1 - © 2012 John Wiley & Sons A/S.

PY - 2012/9

Y1 - 2012/9

N2 - 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.

AB - 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.

U2 - 10.1111/j.1600-0536.2012.02130.x

DO - 10.1111/j.1600-0536.2012.02130.x

M3 - Journal article

C2 - 22897780

SN - 0105-1873

VL - 67

SP - 119

EP - 124

JO - Contact Dermatitis

JF - Contact Dermatitis

IS - 3

ER -