Yuka Ohguchi

Comprehensive screening for a complete set of Japanese‐population‐specific filaggrin gene mutations

Mutations in FLG coding profilaggrin cause ichthyosis vulgaris and are an important predisposing factor for atopic dermatitis. Until now, most case–control studies and population‐based screenings have been performed only for prevalent mutations. In this study, we established a high‐throughput FLG mutation detection system by real‐time PCR with a set of two double‐dye probes and conducted comprehensive screening for almost all of the Japanese‐population‐specific FLG mutations (ten FLG mutations). The present comprehensive screening for all ten FLG mutations provided a more precise prevalence rate for FLG mutations (11.1%, n = 820), which seemed high compared with data of previous reports based on screening for limited numbers of FLG mutations. Our comprehensive screening suggested that population‐specific FLG mutations may be a significant predisposing factor for hay fever (odds ratio = 2.01 [95% CI: 1.027–3.936, P < 0.05]), although the sample sizes of this study were too small for reliable subphenotype analysis on the association between FLG mutations and hay fever in the eczema patients and the noneczema individuals, and it is not clear whether the association between FLG mutations and hay fever is due to the close association between FLG mutations and hay fever patients with eczema.

A novel splice site mutation in NCSTN underlies a Japanese family with hidradenitis suppurativa

Background  Hidradenitis suppurativa (HS) is a chronic follicular occlusive disease with characteristic recurrent draining sinuses, skin abscesses and disfiguring scars, mainly involving the axilla, groin, perianal and perineal regions. While most HS cases are nonfamilial, familial cases showing autosomal dominant inheritance have been reported. Recently, loss‐of‐function mutations in the genes encoding γ‐secretase have been identified as a cause of familial HS in the Chinese and British populations.

Highly prevalent SERPINB7 founder mutation causes pseudodominant inheritance pattern in Nagashima‐type palmoplantar keratosis

Nagashima‐type palmoplantar keratosis (NPPK) is a distinct autosomal recessive genodermatosis characterized by diffuse transgressive palmoplantar keratoderma (PPK). Very recently, putative loss‐of‐function mutations in SERPINB7, which encodes a member of the serine protease inhibitor superfamily and is abundantly expressed in the epidermis, have been identified as a cause of NPPK.

A novel NCSTN mutation alone may be insufficient for the development of familial hidradenitis suppurativa.

Familial hidradenitis suppurativa (familial HS; OMIM #142690) an autosomal dominant chronic inflammatory follicular occlue disease. The clinical features include comedones, recurrent aining sinuses, painful nodules, skin abscesses, dermal contracinvasive squamous cell carcinoma, based on the pathological findings. Genomic DNA of two affected and four unaffected members of the family with HS were obtained from peripheral blood or saliva using QIAamp DNA Blood Maxi Kit (Qiagen, Germantown, MD) or Oragene DNA Self-Collection Kit (DNA Genotek, Kanata, ON), respectively (Fig. 1C). The participants or their legal guardians gave written informed consent for mutation analysis in compliance w ap Un en Pr (N ph po 31 de p. id br Fi NC w et w (d w m en 16 pr res and disfiguring scars, mainly on the scalp, neck, axilla, groin d/or perianal and perineal regions. Familial cases showing tosomal dominant inheritance have been reported in one third HS patients. Recent studies have demonstrated that mutations the genes encoding g-secretase underlie some familial cases ith HS with complete penetrance, while significant interdividual variability of the disease severity was reported [1]. re we describe the first family with HS in which a g-secretase ne mutation does not completely segregate with the disease. A 62-year-old Japanese man presented with the chief complaint 7-cm-diameter ulcerative reddish-colored skin tumor on e anterior neck (Fig. 1A). Physical examination also revealed idespread sinuses, comedones, pustules, inflamed cysts, skin scesses, disfiguring scars and post-inflammatory hyperpigmention on the face, neck, trunk and buttocks (Fig. 1A and B), where had had recurrent episodes of bacterial skin infection since the e of 15. The patient has no significant past medical history cluding diabetes mellitus. He has a positive family history, as his der brother (II-1) and his son (III-1) had similar infectious skin sions on the neck and back (Fig. 1C). A diagnosis of familial HS as made, as the patient and two other individuals in his family lfilled the diagnostic criteria of HS [2], the other individuals in e family did not meet the criteria (Fig. 1C). The skin tumor on the ck was completely excised and subsequently diagnosed as

Loss-of-function mutations in the gene encoding filaggrin underlie a Japanese family with food-dependent exercise-induced anaphylaxis.

Food‐dependent exercise‐induced anaphylaxis (FDEIA) is a serious food allergy in which anaphylaxis develops when exercise is performed within several hours after food intake. The precise mechanism underlying allergic sensitization in FDEIA has been an important issue but remains poorly understood.

Punctate palmoplantar keratoderma type 1: a novel AAGAB mutation and efficacy of etretinate.

Punctate palmoplantar keratoderma type 1 (PPKP1, OMIM#148600), also known as the Buschke-FischerBraurer type, is a rare form of palmoplantar keratoderma that is autosomal dominantly inherited (1). PPKP1 is clinically characterised by multiple punctate hyperkeratotic papules affecting the palmar and plantar skin, with considerable phenotypic variation among patients (2). These circumscribed papules gradually coalesce and increase in number with age (2). The lesions typically start to appear in early adolescence but sometimes develop later in life. In 2012, linkage analysis and whole-exome sequencing identified heterozygous null mutations within AAGAB as a cause of PPKP1 (2, 3). AAGAB encodes αand γ-adaptin binding protein p34, which is involved in clathrin-mediated vesicle transport (2). Loss-of-function mutations in AAGAB result in haploinsufficiency of p34 (2). To date, 20 AAGAB null variants have been identified in Scottish, Irish, English, German, Tunisian, Chinese Mexican and Japanese populations (2–8). Here we report a Japanese case with PPKP1 carrying a novel AAGAB null mutation.

A new filaggrin gene mutation in a Korean patient with ichthyosis vulgaris

Ichthyosis vulgaris (IV; OMIM 146700) is the most common genetic disorder of keratinization, inherited in an autosomal semi-dominant fashion, with incomplete penetrance [1]. IV is clinically characterized by dry skin and scaling, especially on the flexor limbs and the trunk [1]. Palmoplantar hyperlinearity and keratosis pilaris are also mostly associated. Loss-of-function mutations in the gene encoding filaggrin (FLG), a crucial protein for epidermal barrier function, have been identified as a cause [...]

Diagnostic features of acquired dermal melanocytosis of the face and extremities

Acquired dermal melanocytosis of the face and extremities (ADMFE) is an unusual form of acquired dermal melanocytosis (ADM). In this paper, we report a case of ADMFE and review the published literature. Our review highlights several clinical differences between ADMFE and ADM: (i) more frequent involvement of the nasal alae in ADMFE than in ADM, (ii) less frequent involvement of the cheeks in ADMFE than in ADM, (iii) limbs affected in all cases of ADMFE but in few cases of ADM, and (iv) frequent involvement of conjunctiva and/or gingiva in ADMFE but very rare involvement in ADM. These findings strongly support the hypothesis that ADMFE is clinically distinct from the classic form of ADM, and gaining an understanding of its phenotype will enable accurate diagnosis and early intervention by Q‐switched laser therapy, which should benefit those patients with disease‐related cosmetic issues.

A case of idiopathic angioedema exacerbated by angiotensin receptor blocker administration

References 1 Ardig o M, Longo C, Gonzalez S. Multicentre study on inflammatory skin diseases from The International Confocal Working Group: specific microscopy features and an algorithmic method of diagnosis. Br J Dermatol 2016; 175: 364–374. 2 Hoogedoorn L, Peppelman M, van de Kerkhof PC, et al. The value of in vivo reflectance confocal microscopy in the diagnosis and monitoring of inflammatory and infectious skin diseases: a systematic review. Br J Dermatol 2015; 172: 1222–1248. 3 Kurzeja M, Czuwara J, Rakowska A, et al. Reflectance confocal microscopy as a non-invasive diagnostic tool for Hailey-Hailey disease. Skin Res Technol 2014; 20: 503–509. 4 Lacarruba F, Verz ı AE, Errichetti E, et al. Darier disease: dermoscopy, confocal microscopy and histologic correlations. J Am Acad Dermatol 2015; 73: 97–99. 5 El-Shabrawi-Caelen L, Rutten A, Kerl H. The expanding spectrum of Galli-Galli disease. J Am Acad Dermatol 2007; 56: 86–91.

Recurrent Course and CD30 Expression of Atypical T Lymphocytes Distinguish Lymphomatoid Papulosis From Primary Cutaneous Aggressive Epidermotropic CD8 + Cytotoxic T-cell Lymphoma

© 2014 The Authors. doi: 10.2340/00015555-1806 Journal Compilation