Category Archives: J Invest Dermatol

Interpretability of the Quality Of Life in Hand Eczema Questionnaire (QOLHEQ).

J Invest Dermatol. 2019 Oct 10;:

Authors: Oosterhaven JAF, Ofenloch RF, Schuttelaar MLA

Abstract
The Quality Of Life in Hand Eczema Questionnaire (QOLHEQ) is used to measure impairment of health-related quality of life (HRQoL) in hand eczema. Here, we prospectively studied the interpretability of international QOLHEQ scores at three time points: baseline, after 1-3 days (T1) and after 4-12 weeks (T2). Adult patients with hand eczema completed the QOLHEQ and anchor questions for overall assessment of HRQoL impairment. Interpretability of single scores was assessed at baseline by defining severity bands based on agreement with the anchor questions. Smallest detectable change (SDC) was calculated at T1. Minimally important change (MIC) of improvement was calculated at T2 using three methods: mean cut-off, receiver operating curve (ROC) and 95% limit. N=294 adult patients were included (N=160 males, mean age 44.9). The final proposed severity band of overall QOLHEQ single scores (κ-coefficient of agreement, 0.431) was: not at all, 0-10; slightly, 11-39; moderately, 40-61; strongly, 62-86; very strongly, ≥87. Separate overall severity bands were proposed for males and females, and the four subscales of the QOLHEQ. The SDC in N=166 unchanged patients was 18.6 points. The preferred MIC, obtained with the ROC method was 21.5 points. An overall QOLHEQ score of ≥ 22 is recommended as cut-off for a minimally important, real change.

PMID: 31606350 [PubMed – as supplied by publisher]

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KLHL24: Beyond Skin Fragility.
J Invest Dermatol. 2019 Jan;139(1):22-24
Authors: Bolling MC, Jonkman MF
Abstract
KLHL24 mutations have recently been associated with epidermolysis bull… Continue reading →

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Topical Gentamicin for the Treatment of Genetic Skin Diseases.
J Invest Dermatol. 2018 Apr;138(4):731-734
Authors: Pasmooij AMG
Abstract
Clinical application of topical gentamicin is a… Continue reading →

The Association between Hidradenitis Suppurativa and Crohn’s Disease: in Search of the Missing Pathogenic Link.

J Invest Dermatol. 2016 Sep;136(9):1747-8

Authors: van der Zee HH, Horvath B, Jemec GB, Prens EP

Abstract
Hidradenitis suppurativa is a chronic, autoinflammatory skin disease. Shalom et al. demonstrate in a large cross-sectional study an association between Crohn’s disease and hidradenitis suppurativa, but not with ulcerative colitis. This association supports the hypothesis that a similar pathogenic mechanism contributes to both diseases, providing new possibilities for functional studies and therapy development.

PMID: 27542293 [PubMed – in process]

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Epiplakin Is a Paraneoplastic Pemphigus Autoantigen and Related to Bronchiolitis Obliterans in Japanese Patients.
J Invest Dermatol. 2016 Feb;136(2):399-408
Authors: Tsuchisaka A, Numata S, Teye K, Na… Continue reading →

Prevalence of Contact Allergy to p-Phenylenediamine in the European General Population.

J Invest Dermatol. 2016 Feb;136(2):409-415

Authors: Diepgen TL, Naldi L, Bruze M, Cazzaniga S, Schuttelaar ML, Elsner P, Goncalo M, Ofenloch R, Svensson Å

Abstract
Population-based studies on contact allergy to p-phenylenediamine (PPD) are scarce. A cross-sectional study was performed to assess the prevalence of contact allergy to PPD and its risk factors in the general population of 5 European countries. A total of 10,425 subjects were interviewed, and a random sample (n = 2,739) was patch tested to PPD. Overall, 5,286 individuals (50.9%) reported having used hair colorants at least once in their lifetime (78% female, 20% male), and 35% had used hair colorants during the last 12 months. Hair colorant avoidance because of any skin problem during the lifetime was reported by 6%. Black henna tattoos had been used by 5.5% during their lifetime. The prevalence of PPD contact allergy was 0.8% (95% confidence interval 0.6-1.0%), with no statistically significant association with gender or hair dye use. The prevalence of PPD in black henna tattoo users was 3.2% versus 0.6% in nonusers (P < 0.001). A clinically relevant positive patch test reaction to PPD related to hair coloring products was found in 0.1% (95% confidence interval 0.0-0.2%). A significant association with PPD contact allergy was observed for subjects who had black henna tattoos in their lifetime, with an age- and gender-adjusted odds ratio of 9.33 (95% confidence interval 3.45-25.26, P < 0.001). Black henna tattoos are an important risk factor for PPD contact allergy.

PMID: 26802237 [PubMed – as supplied by publisher]

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Epiplakin is a Paraneoplastic Pemphigus Autoantigen and Related to Bronchiolitis Obliterans in Japanese Patients.
J Invest Dermatol. 2015 Oct 19;
Authors: Tsuchisaka A, Numata S, Teye K, Natsuaki Y, K… Continue reading →

Large-Scale Electron Microscopy Maps of Patient Skin and Mucosa Provide Insight into Pathogenesis of Blistering Diseases.
J Invest Dermatol. 2015 Mar 19;
Authors: Sokol E, Kramer D, Diercks GF, Kuipers J, Jonkman MF,… Continue reading →

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From epidemiology and genetics to diagnostics, outcome measures, and novel treatments in autoimmune bullous diseases.
J Invest Dermatol. 2014 Sep;134(9):2298-300
Authors: Ludwig RJ, Borradori L, Diaz… Continue reading →

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Mechanisms of natural gene therapy in dystrophic epidermolysis bullosa.

J Invest Dermatol. 2014 Aug;134(8):2097-104

Authors: Kiritsi D, Garcia M, Brander R, Has C, Meijer R, Jose Escámez M, Kohlhase J, van den Akker PC, Scheffer H, Jonkman MF, del Rio M, Bruckner-Tuderman L, Pasmooij AM

Abstract
Revertant mosaicism has been reported in several inherited diseases, including the genetic skin fragility disorder epidermolysis bullosa (EB). Here, we describe the largest cohort of seven patients with revertant mosaicism and dystrophic EB (DEB), associated with mutations in the COL7A1 gene, and determine the underlying molecular mechanisms. We show that revertant mosaicism occurs both in autosomal dominantly and recessively inherited DEB. We found that null mutations resulting in complete loss of collagen VII and severe disease, as well as missense or splice-site mutations associated with some preserved collagen VII function and a milder phenotype, were corrected by revertant mosaicism. The mutation, subtype, and severity of the disease are thus not decisive for the presence of revertant mosaicism. Although collagen VII is synthesized and secreted by both keratinocytes and fibroblasts, evidence for reversion was only found in keratinocytes. The reversion mechanisms included back mutations/mitotic recombinations in 70% of the cases and second-site mutations affecting splicing in 30%. We conclude that revertant mosaicism is more common than previously assumed in patients with DEB, and our findings will have implications for future therapeutic strategies using the patient’s naturally corrected cells as a source for cell-based therapies.

PMID: 24577406 [PubMed – indexed for MEDLINE]

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Smaller desmosomes are seen in the skin of pemphigus patients with anti-desmoglein 1 antibodies but not in patients with anti-desmoglein 3 antibodies.
J Invest Dermatol. 2014 Aug;134(8):2287-90
Author… Continue reading →

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No evidence of apoptotic cells in pemphigus acantholysis.
J Invest Dermatol. 2014 Jul;134(7):2039-41
Authors: Janse IC, van der Wier G, Jonkman MF, Pas HH, Diercks GF
PMID: 24487306 [PubMed -… Continue reading →

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Long-term survival of type XVII collagen revertant cells in an animal model of revertant cell therapy.

J Invest Dermatol. 2014 Feb;134(2):571-4

Authors: Gostyński A, Llames S, García M, Escamez MJ, Martinez-Santamaria L, Nijenhuis M, Meana A, Pas HH, Larcher F, Pasmooij AM, Jonkman MF, Del Rio M

PMID: 23884316 [PubMed – indexed for MEDLINE]

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Plectin mutations underlie epidermolysis bullosa simplex in 8% of patients.
J Invest Dermatol. 2014 Jan;134(1):273-6
Authors: Bolling MC, Jongbloed JD, Boven LG, Diercks GF, Smith FJ, McLean WH, Jonkman MF
… Continue reading →

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High Anti-Staphylococcal Antibody Titers in Patients with Epidermolysis Bullosa Relate to Long-Term Colonization with Alternating Types of Staphylococcus aureus.
J Invest Dermatol. 2012 Sep 27;
Authors: van de… Continue reading →