Yukiko Nomura

A group of atopic dermatitis without IgE elevation or barrier impairment shows a high Th1 frequency: possible immunological state of the intrinsic type.

BACKGROUND Atopic dermatitis (AD) can be classified into the major extrinsic type with high serum IgE levels and impaired barrier, and the minor intrinsic type with normal IgE levels and unimpaired barrier. OBJECTIVE To characterize the intrinsic type of Japanese AD patients in the T helper cell polarization in relation to the barrier condition. METHODS Enrolled in this study were 21 AD patients with IgE<200kU/L (IgE-low group; 82.5±59.6kU/L) having unimpaired barrier, and 48 AD patients with IgE>500kU/L (IgE-high group; 8.050±10.400kU/L). We investigated filaggrin gene (FLG) mutations evaluated in the eight loci common to Japanese patients, circulating Th1, Th2 and Th17 cells by intracellular cytokine staining and flow cytometry, and blood levels of CCL17/TARC, IL-18, and substance P by ELISA. RESULTS The incidence of FLG mutations was significantly lower in the IgE-low group (10.5%) than the IgE-high group (44.4%) (normal individuals, 3.7%). The percentage of IFN-γ-producing Th1, but not Th2 or Th17, was significantly higher in the IgE-low than IgE-high group. Accordingly, Th2-attracting chemokine CCL17/TARC, was significantly lower in the IgE-low than the IgE-high group. There were no differences between them in serum IL-18 levels, or the plasma substance P levels or its correlation with pruritus. CONCLUSION The IgE-low group differed from the IgE-high group in that it had much less FLG mutations, increased frequency of Th1 cells, and lower levels of CCL17. In the intrinsic type, non-protein antigens capable of penetrating the unimpaired barrier may induce a Th1 eczematous response.

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.

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.

Self-healing congenital generalized skin creases: Michelin tire baby syndrome.

REFERENCES 1. Frieden IJ, Haggstrom AN, Drolet BA, Mancini AJ, Friedlander SF, Boon L, et al. Infantile hemangiomas: current knowledge, future directions. Proceedings of a research workshop on infantile hemangiomas: April 7-9, 2005, Bethesda, Maryland, USA. Pediatr Dermatol 2005;22:383-406. 2. Hall CB, Powell KR, MacDonald NE, Gala CL, Menegus ME, Suffin SC, et al. Respiratory syncytial viral infection in children with compromised immune function. N Engl J Med 1986;315:77-81. 3. Ebbert JO, Limper AH. Respiratory syncytial virus pneumonitis in immunocompromised adults: clinical features and outcome. Respiration 2005;72:263-9. 4. American Academy of Pediatrics Committee on Infectious Diseases and Committee on Fetus and Newborn. Revised indications for the use of palivizumab and respiratory syncytial virus immune globulin intravenous for the prevention of respiratory syncytial virus infections. Pediatrics 2003;112 (6 pt 1):1442-6. 5. Light M. Respiratory syncytial virus seasonality in southeast Florida: results from three area hospitals caring for children. Pediatr Infect Dis J 2007;26(11 suppl):S55-9.

Acquired perforating dermatosis appearing as elastosis perforans serpiginosa and perforating folliculitis

associated with inflammatory lesions. In these cases the lesions were located on the trunk, where the acne lesions were found. Other retinoids such as etretinate and topical retinoids, have also been associated with PG-like lesions. In addition to retinoids, PG-like lesions have been reported with indinavir treatment, an inhibitor of a human immunodeficiency virus (HIV)-1 protease, in up to 5.9% of patients. In these cases the lesions are distributed in the lateral nail folds, most commonly in the toes. It is believed that in this specific location, the disorder is trauma-related. Some homologies between the amino-acid sequences of retinoid acid-binding protein and the catalytic site of HIV-1 protease may explain the cutaneous side-effects of these two drugs. However, the pathogenic mechanism remains unknown. The only previous report of PG-like lesions related to capecitabine treatment was described by Piguet et al. The patient received capecitabine for 4 months and developed lesions in eight of his toes. The lesions resolved 1 month after discontinuation of capecitabine. Although there are some reports describing onycholysis in relation to capecitabine, no further reports of PG-like lesions have been described. Whether there are some similarities between capecitabine and retinoids or indinavir is not known. Dermatologists should be aware of the common cutaneous side-effects of capecitabine, including PG-like lesions.

Dermoscopy is useful for bed bug (Cimex lectularius) bites

(KID) syndrome. Arch Dermatol 1981; 117: 285–289. 4 Caceres-Rios H, Tamayo-Sanchez L, Duran-Mckinster C, de la Luz Orozco M, Ruiz-Maldonado R. Keratitis, ichthyosis, and deafness (KID syndrome): review of the literature and proposal of a new terminology. Pediatr Dermatol 1996; 13: 105–113. 5 Rycroft RJ, Moynahan EJ, Wells RS. Atypical ichthyosiform erythrodernam deafness and keratitis. A report of two cases. Br J Dermatol 1976; 94: 211–217. 6 Messmer EM, Kenyon KR, Rittinger O, Janecke AR, Kampik A. Ocular manifestations of keratitis-ichthyosis-deafness (KID) syndrome. Ophthalmology 2005; 112: e1–e6. 7 Kenneson A, Van Naarden Braun K, Boyle C. GJB2 (connexin 26) variants and nonsyndromic sensorineural hearing loss: a HuGE review. Genetics in medicine : official journal of the American College of Medical. Genetics 2002; 4: 258–274. 8 Coggshall K, Farsani T, Ruben B et al. Keratitis, ichthyosis, and deafness syndrome: a review of infectious and neoplastic complications. J Am Acad Dermatol 2013; 69: 127–134. 9 Bondeson ML, Nystrom AM, Gunnarsson U, Vahlquist A. Connexin 26 (GJB2) mutations in two Swedish patients with atypical Vohwinkel (mutilating keratoderma plus deafness) and KID syndrome both extensively treated with acitretin. Acta Derm Venereol 2006; 86: 503–508. 10 Sahoo B, Handa S, Kaur I, Radotra BD, Kumar B. KID syndrome: response to acitretin. J Dermatol 2002; 29: 499–502.

Anti-laminin-gamma 1 Pemphigoid with Generalized Pustular Psoriasis and Psoriasis Vulgaris.

Title Anti-laminin-gamma 1 Pemphigoid with Generalized Pustular Psoriasis and Psoriasis Vulgaris Author(s) Fujimura, Yu; Natsuga, Ken; Hamade, Yohei; Nomura, Yukiko; Kaku, Yo; Muramatsu, Ryuichi; Shimizu, Hiroshi Citation Acta dermato-venereologica, 96(1), 120-121 https://doi.org/10.2340/00015555-2168 Issue Date 2016-01 Doc URL http://hdl.handle.net/2115/60856 Type article File Information 4463.pdf

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 [...]