Hokkaido University · 의학
노무라 도시후미 교수의 연구실은 유전성 피부질환, 특히 각질화 장애와 만성 염증성 피부질환의 분자 기전을 중심으로 연구를 진행하고 있습니다. 루시린 결함에 기인한 피부병변, TGM1 및 LOR 유전자 변이에 의한 레이어형 잔다병, 퍼스트립스 페널티 등 희귀 피부질환의 유전적 기반을 규명하고 있으며, 특히 병변의 자연적 회복 현상인 복귀 모자이시즘(revertant mosaicism)의 분자 기전에 대한 세계 최초의 보고도 이룩했습니다. 또한, 치료 반응이 불량한 피부질환에 대해 레이저 치료와 같은 새로운 치료 전략의 유효성도 검증하고 있습니다.
표시된 성과는 수집된 데이터 기준으로 산출되며, 일부 차이가 있을 수 있습니다.
Hidradenitis suppurativa (HS) is a chronic inflammatory skin condition, clinically characterized by boiled cysts, comedones, abscess, hypertrophic scars, and/or sinus tracts typically in the apocrine gland-rich areas such as axillae, groins, and/or buttocks. Although its precise pathogenic mechanisms are not fully elucidated, I herein emphasize the importance of the following 3 recent discoveries in the pathogenesis of HS. First, heterozygous loss-of-function mutations in the genes encoding γ-se
These data clearly provide further evidence that NPPK is caused by loss-of-function mutations in SERPINB7.
TGM1 is the most common gene responsible for lamellar ichthyosis. Previous studies have suggested that patients with lamellar ichthyosis carrying two missense mutations in TGM1 show significantly less severe phenotypes than those with at least one truncating mutation in TGM1. Here, we report a patient with severe lamellar ichthyosis who was compound heterozygous for TGM1 missense mutations, including a novel one. A 22-year-old Japanese man presented with large, dark brown, plate-like scales on t
A 48-year-old Japanese woman with angiolymphoid hyperplasia with eosinophilia (ALHE) was successfully treated with a flashlamp pulsed dye laser (585 nm, 450 micros pulse duration). The lesion was severely pruritic and had been enlarging slowly for 2 years but was resistant to conventional therapies, including topical, intralesional, and systemic corticosteroid, and cryotherapy. The severe pruritus immediately improved after the first treatment using the pulsed dye laser. The erythema and papules
Revertant mosaicism is a phenomenon in which pathogenic mutations are rescued by somatic events, representing a form of natural gene therapy. Here, we report on the first evidence for revertant mosaicism in loricrin keratoderma (LK), an autosomal dominant form of ichthyosis caused by mutations in <i>LOR</i> on 1q21.3. We identified two unrelated LK families exhibiting dozens of previously unreported white spots, which increased in both number and size with age. Biopsies of these spots revealed t
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 ea
These results indicate that FLG mutations might be involved in the pathogenesis of WDEIA in the present case.
