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

Abstract:

: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.

journal_name

Contact Dermatitis

journal_title

Contact dermatitis

authors

Kaae J,Menné T,Carlsen BC,Zachariae C,Thyssen JP

doi

10.1111/j.1600-0536.2012.02130.x

subject

Has Abstract

pub_date

2012-09-01 00:00:00

pages

119-24

issue

3

eissn

0105-1873

issn

1600-0536

journal_volume

67

pub_type

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