Dupilumab Improves Pruritus in Netherton Syndrome: A Case Study.

The patient was a 26-year-old male. He had red and scaling skin of the entire body since birth, as well as an elevated level of serum IgE. Genetic testing revealed a mutation in the SPINK5 gene, which had confirmed the diagnosis with Netherton syndrome. He has had significant pruritis since birth, and subsequently had symptoms of sleeping disorders and concentration difficulty throughout the day. Since treatment with various antihistamines were not effective, we administered dupilumab and found that it was effective in immediate elimination of pruritus and gradual reduction of the rash. Dupilumab has been administered for one year without any adverse events or recurrence of symptoms. Although studies have previously described cases who used dupilumab for Netherton syndrome, reported effects have been limited or transient. Additional studies are needed to confirm the effect of dupilumab for Netherton syndrome, which currently lack any effective treatment strategies.

Verruciform xanthoma accompanying a cystic growth: A case report.

Verruciform xanthoma, an uncommon, benign lesion with characteristic histopathological features, usually develops on the oral mucosa or genital area. We present an unusual case of verruciform xanthoma observed on the inguinal skin of a 52-year-old healthy man along with an underlying cystic component. The superficial lesion was a pedunculated nodule with a fissured surface and an 18-mm mound-like pigmented tumor underneath it. The histopathologically deep lesion was continuously attached to the superficial lesion. It was composed of fistula or sinus-like spaces and covered with acanthotic epithelium. The epidermis and upper dermis of both lesions showed identical histopathological findings: varying degrees of acanthosis, elongation of rete ridges, eosinophilic parakeratotic layer extending toward the dermis, and densely infiltrating foam cells confined to the papillary layer of the dermis. This finding of a cystic component in the deep dermis expands the histopathologic features of verruciform xanthoma.

[A Case of Cutaneous Phaeohyphomycosis Caused by Exophiala lecanii-corni Showing a Seasonal Fluctuation of Skin Lesions].

A 56-year-old Japanese female presented to our hospital in March complaining of asymptomatic skin lesions on both cheeks for the past few years. She had been receiving treatment for phlebosclerotic colitis and gastroesophageal reflux disease. We identified subcutaneous nodules with scale, erosion, and necrotic crusts on the surface, with one on the right cheek and two on the left. The patient said that the eruptions almost disappeared every summer but always recurred in winter, a phenomenon that we confirmed. Histopathology revealed pseudoepitheliomatous hyperplasia and marked infiltration from various inflammatory cells with a granulomatous reaction in the dermis. Brown fungal elements were scattered around the epidermis and dermis in the form of single spore or toruloid hyphae. We identified the fungus as Exophiala lecanii-corni based on morphological and physiological characteristics, as well as rRNA gene analysis. The strain grew well at 27 ℃, but growth was remarkably suppressed at 33 ℃ and not observed at all at 37 ℃. Treatment with itraconazole 200 mg / day for 6 months resulted in complete remission of the lesions.

Hereditary angioedema in Japan: genetic analysis of 13 unrelated cases.

INTRODUCTION: The molecular bases and clinical features of hereditary angioedema (HAE) have not been systematically documented in Japan or in other Asian countries. Thus, the authors researched the genetic and clinical characteristics of Japanese patients with HAE. METHODS: The authors analyzed the CIINH gene for mutations in 13 unrelated Japanese patients with HAE by means of the polymerase chain reaction and nucleotide sequencing. In addition, the authors searched the literature from January 1969 to October 2010 on Japanese patients with HAE. RESULTS: Seven of the mutations found were novel, including 4 missense mutations (8728T>G, 8831C>A, 16661T>G and 16885C>A), 2 frameshift mutations (2281_2350del70, 14158delT) and 1 large deletion (at least 1 kb-length deletion including exon 4), whereas 6 mutations had previously been reported in European populations. CONCLUSIONS: The genetic and clinical characteristics in Japanese patients with HAE may be similar to those in Western patients although our sample size is small and the authors identified 7 novel mutations.

Bullous dermatosis associated with IgG antibodies specific for desmocollins.

We describe a 53-year-old man with a two-year history of bullous disease. He had also had stage IV gastric cancer for 3 years. He presented with cutaneous erythemas and blisters, showing an annular arrangement. Histopathological examination revealed intraepidermal pustules of eosinophils and neutrophils without apparent acantholysis. Indirect immunofluorescence (IIF) analysis showed IgG anti-keratinocyte cell surface antibodies. The result of IIF on rat bladder was positive. IgG enzyme-linked immunosorbent assays failed to detect antibodies to either anti-desmoglein-1 (Dsg1), Dsg3, or BP180. Immunoblot analysis with normal human epidermal extract revealed IgG reactivity with 120, 110, and 100 kDa species. Immunofluorescence analysis using COS-7 cells that expressed desmocollin (Dsc) 1, 2, and 3 demonstrated that IgG autoantibodies in the patient's serum reacted with all Dsc1-3. A heterogeneous autoantibody profile including IgG reactivity against Dsc1-3 implicated association with cancer-related pemphigoid, although the findings did not fulfill the diagnostic criteria of paraneoplastic pemphigus. A review of the literature revealed that rare autoantibodies to Dsc, most of which were IgA class, were detected in 7 reported bullous diseases. In 5 out of 7 cases, they were combined with autoantibodies to bullous pemphigoid or pemphigus vulgaris. This is the first case that has IgG autoantibodies to all Dsc1~3.

Mutation analysis of the ADAR1 gene in dyschromatosis symmetrica hereditaria and genetic differentiation from both dyschromatosis universalis hereditaria and acropigmentatio reticularis.

Dyschromatosis symmetrica hereditaria (DSH) (also called "reticulate acropigmentation of Dohi") is a pigmentary genodermatosis of autosomal dominant inheritance. We have clarified for the first time four pathological mutations of the double-stranded RNA-specific adenosine deaminase gene (ADAR1 or DSRAD) in four DSH pedigrees. In this paper, we report 16 novel mutations containing six missense substitutions (p.V906F, p.K1003R, p.G1007R, p.C1036S, p.S1064F, p.R1078C), two splice site mutations (IVS2+2T>G, IVS8+2T>A), six frameshift mutations (p.H216fs, p.K433fs, p.G507fs, p.P727fs, p.V955fs, p.K1201fs), and two nonsense mutations (p.R426X, p.Q600X) found in Japanese patients with DSH. We did not establish any clear correlation between the clinical phenotypes and the genotypes of ADAR1 gene mutations in our examination of 16 cases plus four pedigrees. None of the different mutations identified in our studies of 20 cases suggested any founder effect. Furthermore, we did not identify any mutations in the ADAR1 gene of three patients with dyschromatosis universalis hereditaria or three patients with acropigmentatio reticularis, indicating that the two diseases are completely different from DSH, although they have sometimes been suggested to be phenotypical variations of DSH.