Category Archives: Br J Dermatol

The possible association of hidradenitis suppurativa and Down syndrome: is increased APP expression resulting in impaired Notch signaling the missing link?

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The possible association of hidradenitis suppurativa and Down syndrome: is increased APP expression resulting in impaired Notch signaling the missing link?

Br J Dermatol. 2014 Feb 7;

Authors: Blok JL, Jonkman MF, Horváth B

Abstract
Recently, mutations in genes encoding for ү-secretase (GS) have been demonstrated in familial hidradenitis suppurativa (HS), including presenilin-1 (PSEN1), that probably contribute to the pathogenesis of HS by impairing the Notch signaling pathway. Mutations in PSEN1 are also associated with Alzheimer’s disease (AD), a condition that is strongly related to Down syndrome (DS). Here we describe five cases where HS occurred in DS patients. An association between HS and DS is reasonable since trisomy of chromosome 21 probably leads to overexpression of the amyloid precursor protein (APP) resulting in a change of the substrate pool for GS processing at the expense of the Notch receptors. Consequently, Notch signaling is impaired which predisposes DS individuals to HS. Additionally, the relatively high prevalence of obesity in DS patients as well as alterations in their immune system could underlie the possible association between both conditions. To confirm our hypothesis, further studies are needed investigating the expression of Notch receptors and APP in the epidermis of DS patients. This article is protected by copyright. All rights reserved.

PMID: 24506173 [PubMed – as supplied by publisher]

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Low sensitivity of type VII collagen enzyme-linked immunosorbent assay in epidermolysis bullosa acquisita: serration pattern analysis on skin biopsy is required for diagnosis.

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Low sensitivity of type VII collagen enzyme-linked immunosorbent assay in epidermolysis bullosa acquisita: serration pattern analysis on skin biopsy is required for…

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The n- vs. u-serration is a learnable criterion to differentiate pemphigoid from epidermolysis bullosa acquisita in direct immunofluorescence serration pattern analysis.

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The n- vs. u-serration is a learnable criterion to differentiate pemphigoid from epidermolysis bullosa acquisita in direct immunofluorescence serration pattern analysis.

Br J Dermatol. 2013 Jul;169(1):100-5

Authors: Terra JB, Meijer JM, Jonkman MF, Diercks GF

Abstract
BACKGROUND: Serration pattern analysis of direct immunofluorescence (DIF) allows the differentiation of epidermolysis bullosa acquisita from other subtypes of pemphigoid. In daily practice its use is limited due to lack of experience and unfamiliarity.
OBJECTIVES: To test the learnability of DIF serrated-pattern recognition in groups with various a priori levels of competence.
METHODS: An online nversusu-test (www.nversusu.umcg.nl) was created, which contained 26 DIF images of the epidermal basement membrane zone, IgG stained and photographed with a magnification of × 40 and × 63. All images represented patients with a form of subepidermal autoimmune bullous disease. Thirteen DIF images were presented before and 13 DIF images after an instruction video about n- and u-serrated patterns. There were three options to choose from: n-serrated, u-serrated or undetermined. The test was completed by three groups of professionals: dermatology residents in training at the University Medical Center Groningen (UMCG), international experts on bullous diseases, and dermatologists and pathologists who had participated in the Groningen blistering course during the past 10 years.
RESULTS: The overall number of correct answers of serration patterns was significantly higher after instruction than before instruction (median 9.0 correct answers vs. 11.0 correct answers, P < 0.001). Participants showed a mean improvement after instruction of 15.4% in the UMCG group (66.7% vs. 82.1%), 16.2% in the international expert group (67.2% vs. 83.4%) and 12.1% in the blistering course group (60.7% vs. 72.8%). The u-serrated pattern was better recognized than the n-serrated pattern.
CONCLUSIONS: Serration pattern analysis by DIF can be learned irrespective of background of expertise.

PMID: 23489262 [PubMed – indexed for MEDLINE]

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Systemic therapy with immunosuppressive agents and retinoids in hidradenitis suppurativa: a systematic review.

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Systemic therapy with immunosuppressive agents and retinoids in hidradenitis suppurativa: a systematic review.

Br J Dermatol. 2013 Feb;168(2):243-52

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Ultrastructure of acantholysis in pemphigus foliaceus re-examined from the current perspective.

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Ultrastructure of acantholysis in pemphigus foliaceus re-examined from the current perspective.
Br J Dermatol. 2012 Dec;167(6):1265-71
Authors: van der Wier G, Jonkman MF, Pas HH, Diercks GF
Abstract
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Keratolysis exfoliativa (dyshidrosis lamellosa sicca): a distinct peeling entity.

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Keratolysis exfoliativa (dyshidrosis lamellosa sicca): a distinct peeling entity.

Br J Dermatol. 2012 Nov;167(5):1076-84

Authors: Chang YY, van der Velden…

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The needs of parents with children suffering from lethal epidermolysis bullosa.

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The needs of parents with children suffering from lethal epidermolysis bullosa.

Br J Dermatol. 2012 Sep;167(3):613-8

Authors: Yuen WY, Duipmans JC,…

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Long-term follow-up of patients with Herlitz-type junctional epidermolysis bullosa.

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Long-term follow-up of patients with Herlitz-type junctional epidermolysis bullosa.

Br J Dermatol. 2012 Aug;167(2):374-82

Authors: Yuen WY, Duipmans JC,…

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ITGB4-associated non-Herlitz junctional epidermolysis bullosa: report of two new cases carrying two novel ITGB4 mutations.

ITGB4-associated non-Herlitz junctional epidermolysis bullosa: report of two new cases carrying two novel ITGB4 mutations.

Br J Dermatol. 2012 Sep 27;

Authors: Yuen WY, Sinke RJ,…

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Langerhans cell histiocytosis first presenting in the skin in adults: frequent association with a second hematological malignancy.

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Langerhans cell histiocytosis first presenting in the skin in adults: frequent association with a second hematological malignancy.

Br J Dermatol. 2012 Jul 27;

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Orf-induced pemphigoid with anti-laminin-332 antibodies.

Orf-induced pemphigoid with anti-laminin-332 antibodies.

Br J Dermatol. 2012 Apr 18;

Authors: van den Bos RR, Middelburg T, van Biezen P, van der Eijk AA, Pas HH, Diercks GF

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Inhibition of p38 kinase suppresses the development of psoriasis-like lesions in a human skin transplant model of psoriasis.

Inhibition of p38 kinase suppresses the development of psoriasis-like lesions in a human skin transplant model of psoriasis.

Br J Dermatol. 2012 Mar 13;

Authors: Mihara K, Elliott…

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Stevens-Johnson syndrome and toxic epidermal necrolysis in patients with lupus erythematosus: A descriptive study of 17 cases from a national registry and review of the literature.

Stevens-Johnson syndrome and toxic epidermal necrolysis in patients with lupus erythematosus: A descriptive study of 17 cases from a national registry and review of the literature.

Br J…

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Low dose rituximab is effective in pemphigus.

Low dose rituximab is effective in pemphigus.

Br J Dermatol. 2011 Oct 3;

Authors: Horváth B, Huizinga J, Pas HH, Mulder AB, Jonkman MF

Abstract

Background: …

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Toll-like receptor 2, 4, 7 and 9 expression in primary cutaneous CD30+ T-cell lymphoma.

Toll-like receptor 2, 4, 7 and 9 expression in primary cutaneous CD30+ T-cell lymphoma.
Br J Dermatol. 2009 Dec;161(6):1414-6
Authors: Knol AC, Ehst BD, Dompmartin A, Quéreux G, Nguyen JM, Comoz F, Renaut JJ, Khammari A, Vond… Continue reading

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The spectrum of histopathological features in acute generalized exanthematous pustulosis: a study of 102 cases.

The spectrum of histopathological features in acute generalized exanthematous pustulosis: a study of 102 cases.
Br J Dermatol. 2010 Dec;163(6):1245-52
Authors: Halevy S, Kardaun SH, Davidovici B, Wechsler J,
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Elicitation of the immune response to p-phenylenediamine in allergic patients: the role of dose and exposure time.

Elicitation of the immune response to p-phenylenediamine in allergic patients: the role of dose and exposure time.
Br J Dermatol. 2010 Dec;163(6):1205-11
Authors: Goebel C, Coenraads PJ, Rothe H, Kunze G, Kock M, Schlatter H… Continue reading

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No major role for glutathione S-transferase gene polymorphisms in sensitization to para-phenylenediamine and other xenobiotics: a study of association and a meta-analysis.

No major role for glutathione S-transferase gene polymorphisms in sensitization to para-phenylenediamine and other xenobiotics: a study of association and a meta-analysis.
Br J Dermatol. 2011 Apr;164(4):890-2
Authors: Pot LM… Continue reading

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STROBE and reporting observational studies in dermatology.

STROBE and reporting observational studies in dermatology.
Br J Dermatol. 2011 Jan;164(1):1-3
Authors: Langan SM, Schmitt J, Coenraads PJ, Svensson A, von Elm E, Williams HC,
PMID: 21175559 [PubMed – indexed for ME… Continue reading

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Mutations in KRT5 and KRT14 cause epidermolysis bullosa simplex in 75% of the patients.

Mutations in KRT5 and KRT14 cause epidermolysis bullosa simplex in 75% of the patients.
Br J Dermatol. 2011 Mar;164(3):637-44
Authors: Bolling MC, Lemmink HH, Jansen GH, Jonkman MF
Abstract
BACKGROUND: Epider… Continue reading

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