Acral peeling skin syndrome (APSS) is an autosomal recessive skin disorder characterized by acral blistering and peeling of the outermost layers of the epidermis. It is caused by mutations in the gene for transglutaminase 5, TGM5. Here, we report on clinical and molecular findings in 11 patients and extend the TGM5 mutation database by four, to our knowledge, previously unreported mutations: p.M1T, p.L41P, p.L214CfsX15, and p.S604IfsX9. The recurrent mutation p.G113C was found in 9 patients, but also in 3 of 100 control individuals in a heterozygous state, indicating that APSS might be more widespread than hitherto expected. Using quantitative real-time PCR, immunoblotting, and immunofluorescence analysis, we demonstrate that expression and distribution of several epidermal differentiation markers and corneodesmosin (CDSN) is altered in APSS keratinocytes and skin. Although the expression of transglutaminases 1 and 3 was not changed, we found an upregulation of keratin 1, keratin 10, involucrin, loricrin, and CDSN, probably as compensatory mechanisms for stabilization of the epidermal barrier. Our results give insights into the consequences of TGM5 mutations on terminal epidermal differentiation.
The influence of contact sensitivities on the course of atopic dermatitis (AD) is not known. The objective of the study is to find the course of AD in atopic patients with and without contact sensitivities. A total of 801 atopic patients were studied and patch tested in 1983/84. A questionnaire focusing on the occurrence of dermatitis was sent to these patients 16 years later. During the follow up the number of symptom-free patients increased from 36.7% to 40.7%. In patients with positive patch-test reactions, 30.1% were symptom free in 1983/84 and 38.3% at the follow up (P= 0.001). Among those with positive patch-test reactions to fragrance mix and/or balsam of Peru, the number of symptom-free patients had increased the most: from 26.9% to 42.6% (P= 0.0095), and a similar tendency was seen among those with nickel allergy. The occurrence of dermatitis did not change among patients without contact sensitivities. Thus, the study concluded that contact allergy does not impair the prognosis of dermatitis in atopic patients.
Critical interpretation of the nucleic acid amplification results obtained from nonrespiratory specimens is necessary in both laboratory and clinical settings.
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