Monthly Archives: December 2015

Somatic mosaicism for the COL7A1 mutation p.Gly2034Arg in the unaffected mother of a patient with dystrophic epidermolysis bullosa pruriginosa.

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Somatic mosaicism for the COL7A1 mutation p.Gly2034Arg in the unaffected mother of a patient with dystrophic epidermolysis bullosa pruriginosa.
Br J Dermatol. 2015 Mar;172(3):778-81
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Ustekinumab in hidradenitis suppurativa: clinical results and a search for potential biomarkers in serum.


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Ustekinumab in hidradenitis suppurativa: clinical results and a search for potential biomarkers in serum.

Br J Dermatol. 2015 Dec 7;

Authors: Blok JL, Li K, Brodmerkel C, Horvátovich P, Jonkman MF, Horváth B

Abstract
BACKGROUND: Treatment of hidradenitis suppurativa (HS) is difficult and the search for effective therapies continues.
OBJECTIVES: 1.To evaluate the efficacy of ustekinumab. 2.To discover a potential biomarker.
METHODS: Seventeen patients were included in this open label study and treated with 45 to 90 mg ustekinumab at weeks 0, 4, 16 and 28. Proteomic technology and enzyme-linked assay analysis (ELISA) was applied on serum.
RESULTS: Twelve patients completed the protocol. Moderate to marked improvement of the modified Sartorius Score was achieved in 82% of patients at week 40 and the hidradenitis suppurativa clinical response (HiSCR-50) in 47%. At baseline, a significant difference was observed in the expression of 54 serum proteins between patients and healthy controls. Involved pathways were related to inflammation, immune cell signaling, and tissue morphology/development. Good responders had milder disease and lower expression of leukotriene A4-hydrolase (LTA4H). IL-2R, TNF-α, IL17A and IL-17F were not elevated and did not change during treatment.
CONCLUSIONS: The majority of patients improved with ustekinumab. Although no biomarker was discovered, low LTA4H concentrations with mild disease severity may be predictive for the effectiveness of ustekinumab. This article is protected by copyright. All rights reserved.

PMID: 26641739 [PubMed – as supplied by publisher]

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Bullous Pemphigoid With a Dual Pattern of Glomerular Immune Complex Disease.

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Bullous Pemphigoid With a Dual Pattern of Glomerular Immune Complex Disease.
Am J Kidney Dis. 2015 Nov 23;
Authors: Hoorn EJ, Taams NE, Hurskainen T, Salih M, Weening JJ, Jonkman MF, Pas HH, Schreurs … Continue reading






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Surgical Procedures in Hidradenitis Suppurativa.


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Surgical Procedures in Hidradenitis Suppurativa.

Dermatol Clin. 2016 Jan;34(1):97-109

Authors: Janse I, Bieniek A, Horváth B, Matusiak Ł

Abstract
Hidradenitis suppurativa is difficult to treat owing to its complex pathomechanism; beside the extensive inflammation with abscesses and inflammatory nodules, there is also an architectural loss with sinus tract formation and in severe cases with extensive scarring. Therefore, surgery is mandatory in moderate and severe HS.

PMID: 26617363 [PubMed – in process]

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