The Journal of dermatology最新文献

An 86-year-old woman with residual left hemiplegia from a prior stroke, residing in a nursing facility, presented with swelling of the right side of her neck. Tuberculous lymphadenitis was diagnosed through polymerase chain reaction analysis and sputum culture, leading to treatment with isoniazid, rifampicin, and ethambutol. After 2 months, an abscess and ulcer formed; analysis of the bacterial flora of the ulcer revealed a Pseudomonas infection. Treatment with a topical iodine-containing ointment eradicated the Pseudomonas and led to increased diversity with the emergence of species from the Eukaryota and Archaea kingdoms. Subsequently, a loss of diversity occurred, ultimately resulting in a dominance of Escherichia-Shigella. We suggest that the bacterial flora of early ulcers may be dominated by multidrug-resistant Pseudomonas. Escherichia-Shigella may emerge during the ulcer healing process. We, therefore, strongly encourage recognition of the fact that individuals with tuberculosis are immunocompromised and emphasize the critical importance of early intervention in such infections.

Multiple hereditary infundibulocystic basal cell carcinoma syndrome (MHIBCC), an autosomal dominant disorder caused by variants in SUFU, is characterized by numerous infundibulocystic basal cell carcinomas (IBCCs). In this report, we present a possible case of mosaic MHIBCC. A 57-year-old woman underwent the removal of four papules on her face, which were diagnosed as IBCCs. Exome sequencing revealed a SUFU c.1022+1G>A mutation within the skin tumor. The same mutation was detected in her blood but at a lower allele frequency. TA cloning revealed that the allele frequency of the mutation in the blood was 0.07. Additionally, tumor assessment revealed loss of heterozygosity (LOH) in chromosome 10, including the SUFU locus. These results indicate the patient had mosaicism for the SUFU mutation in normal tissues, aligning with the mosaic MHIBCC diagnosis. This, combined with LOH, likely contributed to IBCC development. Mosaic MHIBCC may present with milder symptoms. However, it may still increase the risk of developing brain tumors and more aggressive basal cell carcinoma. The possibility of mosaicism should be investigated in mild MHIBCC cases, where standard genetic tests fail to detect SUFU germline variants.

Tapinarof is a non-steroidal, topical, aryl hydrocarbon receptor agonist. We evaluated the efficacy and safety of tapinarof cream (1%) in Japanese patients aged ≥18 years with plaque psoriasis in two phase 3 trials, ZBA4-1 and ZBA4-2. ZBA4-1 (N = 158) consisted of a 12-week, double-blind, vehicle-controlled treatment period (period 1) and a 12-week extension treatment period (period 2). Patients were randomized 2:1 to tapinarof or vehicle in period 1; subsequently, all patients who were enrolled in period 2 received tapinarof. ZBA4-2 (N = 305) was a 52-week, open-label, uncontrolled trial in which all patients received tapinarof. In period 1 of ZBA4-1, the proportion of patients who achieved a Physician Global Assessment (PGA) score of 0 (clear) or 1 (almost clear) with ≥2-grade improvement from baseline at week 12 (PGA treatment success, the primary endpoint) was 20.06% in the tapinarof group and 2.50% in the vehicle group (p = 0.0035). The proportion of patients with ≥75% improvement from baseline in the Psoriasis Area and Severity Index (PASI) score at week 12 (PASI75 response, a key secondary endpoint) was 37.7% in the tapinarof group and 3.8% in the vehicle group (p < 0.0001). In ZBA4-2, PGA treatment success rate was 30.0% at week 12, 51.3% at week 24, and 56.3% at week 52, and PASI75 response rate was 50.4% at week 12, 77.5% at week 24, and 79.9% at week 52, indicating that efficacy responses improved over time and were maintained over 52 weeks. Across the two trials, most adverse events (AEs) were mild or moderate; common AEs included folliculitis and contact dermatitis. In summary, tapinarof cream (1%) was efficacious and generally safe for up to 52 weeks of treatment in Japanese patients with plaque psoriasis.

Acral peeling skin syndrome (APSS; MIM 609796) is a rare genodermatosis characterized by painless focal cutaneous exfoliation of the dorsal hands and feet, typically displaying autosomal recessive inheritance. While cases associated with a founder mutation in TGM5 are relatively common in European Caucasian populations, no APSS cases have been reported from Japan or other East Asian countries. In contrast, Nagashima-type palmoplantar keratosis (NPPK; MIM 615598), caused by variants in SERPINB7, is relatively common in East Asia due to founder mutations. We describe a 27-year-old Japanese woman with spontaneous focal cutaneous exfoliation of the dorsal hand following prolonged glove use, indicative of APSS. Histopathological examination revealed a cleft between the stratum corneum and stratum granulosum and within the horny layer of the epidermis, supporting this diagnosis. However, her mother and maternal uncle exhibited similar symptoms, and there was no reported consanguinity in the patient's parents or grandparents, prompting suspicion of an autosomal dominant genodermatosis. Whole-genome sequencing (WGS) revealed compound heterozygous variants in TGM5 (c.1037G>A and c.684 + 1G>A) as suspected causative variants in the patient, leading to an APSS diagnosis, the first reported in East Asia. On the other hand, her mother and maternal uncle were diagnosed with NPPK due to compound heterozygous pathogenic variants in SERPINB7 (c.796C>T and c.455-1G>A). This case highlights the complexity of diagnosing skin disorders when multiple genodermatoses with similar phenotypes exist within a pedigree. Comprehensive genetic analyses, such as whole-exome sequencing and WGS, are invaluable for identifying causative variants in such complex cases.

Psoriasis is a complex, chronic inflammatory skin disease that significantly impacts patients' quality of life (QOL), especially in cases of genital, nail, and scalp psoriasis. Bimekizumab is an inhibitor of interleukin (IL)-17A and IL-17F and used for the treatment of psoriasis. The aim of this retrospective study was to evaluate the effectiveness of bimekizumab through in treating genital, nail, and scalp lesions with psoriasis over 24 weeks. The study was conducted from May 2022 and February 2024 on 52 psoriasis patients treated with bimekizumab. The therapeutic effects of bimekizumab were evaluated by the achievement of Physician's Global Assessment (PGA) rates of 0/1 on the genitals (genital-PGA), fingernails (PGA-F), scalp-specific PGA (ss-PGA), static PGA (sPGA), and the Dermatology Life Quality Index (DLQI) at weeks 4, 16, and 24. Bimekizumab treatment significantly improved genital, nail, and scalp lesions with psoriasis. At week 24, the achievement rate of genital-PGA 0/1, PGA-F 0/1, ss-PGA 0/1 was 96.2%, 66.7%, or 93.9%, and that of sPGA 0/1 or DLQI 0/1 was 93.9% or 83.3%, respectively. Bimekizumab was effective for genital, nail, and scalp lesions with psoriasis, difficult-to-treat lesions, and simultaneously improved QOL in a real-world clinical practice.

A 52-year-old man presented to our department with generalized erythema, watery stools, and vomiting 30 min after ingesting coconut, oatmeal, and vegetable juice. On arrival, his blood pressure was 120/79 mm Hg, heart rate was 126 beats per min, blood oxygen saturation was 96%, and lip cyanosis was observed. The patient experienced diffuse redness throughout the body and was diagnosed as having severe anaphylaxis. A skin prick test for the leftover coconut, oatmeal, and vegetable juice, which the patient had consumed immediately before the onset of symptoms, showed a positive reaction only to the leftover oatmeal. Direct microscopic examination of the leftover oatmeal revealed numerous insect bodies that appeared as booklice. Using Western blot analysis and quantitative polymerase chain reaction, Lip b 1, a specific antigen for Liposcelis bostrychophila (badonnel), an indoor pest that inhabits various places and feeds on various indoor materials, including stored foods, was detected only in the extract of the leftover oatmeal. Based on these results, we identified an insect body infesting oatmeal, L. bostrychophila. The serum level of L. bostrychophila-specific immunoglobulin antibodies was higher than the cutoff value; therefore, we identified the disease as anaphylaxis caused by accidental ingestion of L. bostrychophila that infested the oatmeal stored in the container. We report the first case of L. bostrychophila-infested oatmeal as an orally ingested allergen in Japan.