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Filaggrin haploinsufficiency among patients with dermatitis from a tertiary referral centre: early findings and possible phenotype
Author(s) -
Thyssen Jacob P.,
Carlsen Berit C.,
Johansen Jeanne D.,
Meldgaard Michael,
Szecsi Pal B.,
Stender Steen,
Menné Torkil
Publication year - 2010
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.1600-0536.2009.01687.x
Subject(s) - medicine , allergy , referral , family medicine , dermatology , pediatrics , immunology
Loss-of-function (null) mutations in the profilaggrin gene is associated with atopic dermatitis and perhaps also with hand eczema and nickel contact allergy (1–4). In a recent prospective study performed among 792 British school children, Brown et al. confirmed that palmar hyperlinearity is associated with filaggrin haploinsufficiency and reported three distinct patterns of palmar hyperlinearity (5, 6). These findings are of importance as they increase our knowledge about hand eczema phenotypes. There have been several attempts in the past (before the filaggrin era) to identify a distinct morphological pattern that can differentiate between atopic hand eczema and other subtypes of hand eczema (7–10). Bonvén et al. found that only 5 (17.2%) of 29 patients with severe atopic dermatitis had involvement of the palmar skin (7). Svensson showed that palmar hyperlinearity was significantly associated with having atopic hand eczema (10). Fartasch et al. found that palmar hyperlinearity were phenotypic markers of atopic dermatitis alone and not a sign of ichthyosis vulgaris (8). Recently, Simpson, Thompson and Hanifin evaluated 777 consecutive patients with atopic dermatitis and found that in all age-groups, hand eczema tended primarily to involve the dorsal hand surfaces and the volar aspect of the wrist (9). Of note, vesicular lesions of the palms and sides of fingers were found in only 4.3% (9). Recently, we began genotyping for the two most prevalent filaggrin null mutations (R501X and 2282del4) among referred dermatitis patients. The genotyping assay is based on PCR followed by typing through hybridization to paramagnetic polystyrene beads and detection on the xMAP platform. So far, 128 patients (64.1% women and 35.9% men) seen in our atopic dermatitis and patch test clinic have been genotyped. In this correspondence, we present our early observations on hand eczema as there are still only very few published clinical data. Medical charts were retrospectively reviewed to achieve information about gender, age, hand eczema, atopic dermatitis, anatomical location of