Takamasa Ito

Rapid transition from pemphigus vulgaris to pemphigus foliaceus.

S. Altrichter, T. Hawro, K. H€ anel, K. Czaja, B. L€ uscher, M. Maurer, M.K. Church,* J.M. Baron Department of Dermatology and Allergology, Charit e – Universit€ atsmedizin Berlin, Berlin, Germany, Department of Dermatology and Allergology, Medical School RWTH Aachen University, Aachen, Germany, Medical School RWTH Aachen University, Institute of Biochemistry and Molecular Biology, Aachen, Germany *Correspondence: M. Church. E-mail: mkc@soton.ac.uk

Low-dose etretinate shows promise in management of punctate palmoplantar keratoderma type 1: Case report and review of the published work

Punctate palmoplantar keratoderma type 1 (PPKP1) is a rare autosomal dominant disorder of keratinization, clinically characterized by punctate keratotic papules affecting the palmoplantar skin. Loss‐of‐function mutations in AAGAB have recently been reported as a cause of PPKP1. Despite the discovery of the genetic cause of PPKP1, pathogenesis‐based therapies are still unavailable. Moreover, little is known about the effectiveness of treatments for PPKP1. In this study, we analyzed a Japanese woman with PPKP1 and identified a novel frame‐shift mutation c.195_198del4 (p.Lys66Phefs*43) in AAGAB. Moreover, low‐dose etretinate was effective in improving the PPKP1 lesions in our patient. Our published work review identified only eight cases of PPKP1 with successful response to topical or systemic treatments. Notably, six of the cases were successfully treated with systemic retinoids. Thus, this study clearly provides further evidence that PPKP1 is caused by AAGAB mutations and that systemic retinoids are the most promising current treatment for PPKP1.

Spontaneously resolving granulomatous tattoo reaction in multiple color regions

1 Ceyhan AM, Aynali G, Chen W, Kapucuoglu N. Congenital giant juvenile xanthogranuloma initially masquerading as hemangioma. Eur J Dermatol 2011; 21: 431. 2 Yazganoglu KD, Erdem Y, Buyukbabani N, Baykal C. A giant congenital plaque. Pediatr Dermatol 2012; 29: 217. 3 Clayton TH, Mitra A, Holder J, Clark SM. Congenital plaque on the chest. Diagnosis: solitary giant congenital juvenile xanthogranuloma. Clin Exp Dermatol 2007; 32: 613. 4 Berti S, Coronella G, Galeone M, Balestri R, Patrizi A, Neri I. Giant congenital juvenile xanthogranuloma. Arch Dis Child 2013; 98: 317. 5 Imiela A, Carpentier O, Segard-Drouard M, Martin de Lassalle E, Piette F. Juvenile xanthogranuloma: a congenital giant form leading to a wide atrophic sequela. Pediatr Dermatol 2004; 21: 121–123.

A recurrent ‘hot spot’ glycine substitution mutation, G2043R in COL7A1, induces dominant dystrophic epidermolysis bullosa associated with intracytoplasmic accumulation of pro-collagen VII

Fig. 1. Clinical, immunohistopathological and electron microscopic studies on the presen knee. Many millias were found on the fingers (arrows). (B) C7 expression at the DEJ by retained C7. Propidium iodide (PI) was used for nuclear staining. Scale bar = 50 mm

Repeated skin sampling and prolonged incubation period identified cutaneous Mycobacterium chelonae infection on the face in an immunocompetent man

1 Zuberbier T, Asero R, Bindslev-Jensen C, et al. EAACI/GA(2)LEN/ EDF/WAO guideline: definition, classification and diagnosis of urticaria. Allergy 2009; 64:1417–26. 2 Zuberbier T, Asero R, Bindslev-Jensen C, et al. EAACI/GA(2)LEN/ EDF/WAO guideline: management of urticaria. Allergy 2009; 64:1427–43. 3 Kaplan A, Ledford D, Ashby M, et al. Omalizumab in patients with symptomatic chronic idiopathic/spontaneous urticaria despite standard combination therapy. J Allergy Clin Immunol 2013; 132:101–9. 4 Maurer M, Ros en K, Hsie HJ, et al. Omalizumab for the treatment of chronic idiopathic or spontaneous urticaria. New Engl J Med 2013; 368:924–35. 5 Metz M, Altrichter S, Ardelean E, et al. Anti-immunoglobulin E treatment of patients with recalcitrant physical urticaria. Int Arch Allergy Immunol 2011; 154:177–80. 6 Magerl M, Borzova E, Gim enez-Arnau A, et al. The definition and diagnostic testing of physical and cholinergic urticarias – EAACI/ GA2LEN/EDF/UNEV consensus panel recommendations. Allergy 2009; 64:1715–21. 7 Altrichter S, Peter HJ, Pisarevskaja D, et al. IgE mediated autoallergy against thyroid peroxidase – a novel pathomechanism of chronic spontaneous urticaria? PLoS ONE 2011; 6:e14794. 8 Maurer M, Altrichter S, Bieber T, et al. Efficacy and safety of omalizumab in patients with chronic urticaria who exhibit IgE against thyreoperoxidase. J Allergy Clin Immunol 2011; 128:202–9.

Regulatory T-cell dysfunction induces autoantibodies to bullous pemphigoid antigens in mice and human subjects

Background: Regulatory T (Treg) cells play a crucial role in peripheral immune tolerance in multiple organs, including the skin. Thus far, the effect of peripheral immune tolerance failure on autoantibody‐related autoimmune reactions to the skin is unclear. Objective: We sought to elucidate the target autoantigens in the skin under the condition of Treg cell dysfunction caused by forkhead box P3 (Foxp3) gene mutations in scurfy mice and patients with immunodysregulation, polyendocrinopathy, enteropathy, X‐linked (IPEX) syndrome. Methods: Sera and skin from scurfy mice and sera from patients with IPEX syndrome were analyzed to detect target autoantigens by using immunofluorescence studies, ELISAs, and immunoblotting. The pathogenicity of scurfy IgG was examined by using a passive transfer experiment. CD4+ T cells from scurfy mice were transferred to immunodeficient mice to examine their pathogenicity. Signal transducer and activator of transcription 6 (Stat6)−/− scurfy mice were analyzed to further clarify the molecular pathway of autoantibody production. Follicular helper T‐cell counts are measured in Stat6−/− scurfy mice and scurfy mice. Results: Scurfy mice spontaneously generated IgG autoantibodies to the dermal‐epidermal junction, which had been class‐switched from IgM within 12 days after birth. The target autoantigens were murine BP230 and type XVII collagen (COL17). The scurfy polyclonal autoantibodies did not induce skin fragility in neonatal mice. Autoantibody production was induced by CD4+ T cells from scurfy mice and was ameliorated by Stat6 gene knockout in association with a decrease of follicular helper T cells. We also identified autoantibodies to COL17 and BP230 in patients with IPEX syndrome and found an association between production of autoantibodies to COL17 and an eczematous skin phenotype. Conclusions: Dysregulation of Treg cells generates autoantibodies to COL17 and BP230 in vivo. GRAPHICAL ABSTRACT Figure. No caption available.

Linear IgA Bullous Dermatosis in a Pregnant Woman with Autoantibodies to the Non-collagenous 16A Domain of Type XVII Collagen

Linear IgA bullous dermatosis (LABD) is a rare subepidermal autoimmune blistering disorder in which IgA autoantibodies to the 120-kDa and 97-kDa shed ectodomains of type XVII collagen (COL17, BP180) at the basement membrane zone (BMZ) are most frequently detected (1, 2). The aetiology of LABD remains largely unclear, although associations with drugs, infections and malignancies have been reported (1). As only a few cases of LABD in pregnancy have been reported (3), little is known about the aetiology of such cases. We report here the first case of LABD in a pregnant woman, in which the target epitope of the autoantibodies was identified as the non-collagenous 16A (NC16A) domain of COL17.

Plasma cell cheilitis successfully treated with topical calcineurin inhibitors.

Plasma cell cheilitis (PCC) is an uncommon disorder that clinically manifests as erosive or erythematous eruptions on the labial mucosa [1]. Histopathologically, dense plasma cell infiltrates in the upper layer of the lamina propria of the mucosa characterise the disorder. PCC is usually refractory to various topical treatments, including corticosteroids [2], antibiotics [3], fusidic acid [3], and antifungal agents [4]. Although cases of PCC successfully treated with topical calcineurin inhibitors [...]

Potential role of extracellular vesicle–mediated antigen presentation in Helicobacter pylori hypersensitivity during eradication therapy

Hypersensitivity to Helicobacter pylori, a bacterium in the stomach, is induced during eradication therapy, resulting in skin manifestations. extracellular vesicles-mediated antigen presentation could play a role in this process.

Unusual post‐patch testing erythema: a late, granulomatous, non‐eczematous reaction to gold sodium thiosulphate

In patch testing, delayed reactions at day 7 or later are regarded as “late reactions”.1 Neomycin, corticosteroids, paraphenylendiamin and gold are well-known allergens of late reactions.1,2 Of these, reactions to gold sodium thiosulfate (GSTS) can be significantly delayed, and some cases have been reported to be accompanied with granulomatous changes.3,4 Clinical reports of this reaction to GSTS are very limited. Here, we report a case of granulomatous reaction to GSTS, and we review the literature to reveal the features of this phenomenon. This article is protected by copyright. All rights reserved.