Hokkaido University · Medicine
Professor Toshifumi Nomura's research lab specializes in the genetic and molecular mechanisms underlying inherited skin disorders, with a focus on ichthyoses, keratodermas, and other epidermal differentiation diseases. The lab investigates disease-causing mutations in genes such as *TGM1*, *LOR*, *SERPINB7*, and *AAGAB*, and explores novel genetic phenomena like revertant mosaicism and copy-neutral loss-of-heterozygosity as endogenous corrective mechanisms. Their work integrates clinical dermatology with molecular genetics, utilizing next-generation sequencing and functional genomics to uncover pathogenic mechanisms and identify potential therapeutic targets. The lab also evaluates innovative treatments, such as pulsed dye laser therapy, for rare and therapy-resistant skin conditions.
Figures are computed from collected data and may differ slightly.
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.
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