Activities of the Research Group for Comprehensive Research of Gene Mutation-related Rare and Intractable Diseases of the Skin within the Project for Research on Intractable Diseases of the Ministry of Health, Labor, and Welfare of Japan.

The Hashimoto Research Group for Comprehensive Research of Gene Mutation-related Rare and Intractable Diseases of the Skin is a contributor to the Project for Research on Intractable Diseases of the Ministry of Health, Labor, and Welfare (MHLW) of Japan. Our research group performs clinical research on 23 rare intractable genetic skin diseases that are classified into eight disease groups. Among the 23 diseases, 17 are mainly studied by our research group, and 6 diseases are studied in collaboration with other research groups.

Case report: Exploring autosomal recessive woolly hair: genetic and scanning electron microscopic perspectives on a Japanese patient.

Woolly hair (WH) is a hair shaft anomaly characterized by tightly curled hair that typically stops growing at a few inches. Autosomal recessive WH (ARWH; OMIM no. 278150/604379/616760) has been reported to be caused by variants in genes coding lysophosphatidic acid receptor 6 (), lipase H (), or keratin 25 ().

Upregulated expression of glucose transporter isoform 1 in invasive and metastatic extramammary Paget's disease.

Glucose transporter isoform 1 (GLUT1), which is upregulated in a variety of malignant tumors, facilitates cellular glucose uptake to boost rapid tumor growth and progression. In several types of cancer, inhibition of GLUT1 suppresses tumor proliferation and metastasis, indicating that GLUT1 is a potential target of anticancer therapy. The present study performed immunohistochemistry to analyze GLUT1 expression levels in 51 patients with extramammary Paget's disease (EMPD), including 23 with only intraepidermal lesions and 28 with dermal-invasive lesions.

Two cases of cutaneous-type pemphigus vulgaris and a case of pemphigus foliaceus without mucosal involvement despite high anti-desmoglein 3 autoantibody levels.

Pemphigus is an autoimmune blistering disease with two major subtypes, pemphigus vulgaris (PV) and pemphigus foliaceus (PF). Although most patients with PV show oral lesions, cutaneous type PV (C-PV) is a rare subtype clinically characterized by predominant cutaneous involvement with no or subtle mucosal lesions. Patients with PF present with only skin involvement; they do not have mucosal lesions.

Dystrophic calcinosis cutis in a patient with cutaneous sarcoidosis in remission.

A 65-year-old Japanese woman was referred to our department because of a 5-month history of asymptomatic papules on the face. She was diagnosed with cutaneous sarcoidosis on the face 20 years ago. All of the lesions had completely disappeared with oral corticosteroids.

Availability of mRNA Obtained from Peripheral Blood Mononuclear Cells for Testing Mutation Consequences in Dystrophic Epidermolysis Bullosa.

Dystrophic epidermolysis bullosa (DEB) is an inheritable blistering disease caused by mutations in , which encodes type VII collagen. To address the issue of genotype-phenotype correlations in DEB, analyzing the consequences of mutations using mRNA is indispensable. Herein we established a novel method for testing the effect of mutations in DEB using mRNA extracted from peripheral blood mononuclear cells (PBMCs).