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Cowden syndrome (CS) is an autosomal dominant inherited disorder characterized by macrocephaly and multiple hamartomas. The responsible gene is PTEN (phosphate and tensin homolog detected on chromosome 10), which negatively regulates cell proliferation and survival. We herein present a 46-year-old woman with the typical clinical features of CS. A DNA sequencing analysis of the coding regions and flanking introns of the PTEN gene revealed a novel heterozygous mutation (c.403A > G, p.Ile135Val) in exon 5 that had not been previously reported in CS. J. Med. Invest. 67 : 200-201, February, 2020.

Skin tumors are supposed to develop through accumulations of genetic and/or epigenetic events in normal cells of the skin. Among them, we focus on common skin tumors, including benign, seborrheic keratosis, and malignant, squamous cell carcinoma and melanoma. Many important molecules have been detected on the molecular tumorigenesis of each of them to date, and some drugs targeted for their molecules have been already developed. We review updates on the molecular tumorigenesis of these tumors with our current works.

Introduction: Appropriate skin care for dry scalp includes treatment for dandruff and itchiness. However, little is known about the appropriate washing methods for subjects with dry scalp. Me- thods: A scalp moisturizing lotion was used for 8 weeks on 30 outpatients at the Tokushima University Hospital who had dry scalp. All subjects were given the same hair shampoo/conditioner and instructions on how to wash their hair. Scalp symptoms were observed before and after the testing period. Indigenous bacteria were collected from the scalp for quantitative assessment. A survey was conducted to assess the quality of life (QOL). Results: All scalp condition items (dryness, scales and desquamation, itchiness, excoriation, and erythema) improved significantly after the testing period; the levels of Malassezia and bacterial colonization also decreased significantly. The QOL evaluation indicated significant improvements in “symptoms”, “emotions”, and “global” measures. A correlation was found between the extent of dryness at the start of the test and the level of Malassezia colonization, as well as QOL scores. Conclusion: Using a scalp moisturizing lo- tion, washing hair with a shampoo and conditioner that cause low irritation levels, and using a hair washing method that avoids irritation led to improvement in scalp condition, QOL, and pa- tient satisfaction.

Fibroblast growth factors (FGFs) and their receptors (FGFRs) control a wide range of biological functions ; however, their involvement in the pathogenesis of dermatofibroma (DF) and dermatofibrosarcoma protuberans (DFSP) is currently unknown. In this study, we first confirmed the histological diagnosis by detecting fusion COL1A1-PDGFB transcripts in DFSP, and examined the expression of all FGFRs (FGFR1-4), some of their ligands (FGF1, 2, 9), and forkhead box N1 (FOXN1) as a downstream target of FGFR3 in DF and DFSP by immunohistochemical analysis. Although we failed to detect the expression of FGF1 and FGF9 as specific ligands for FGFR3 in DF, overexpression of FGFR3 and FOXN1 was observed in the epidermal regions of DF, suggesting that the epidermal regions of DF were similar to seborrhoeic keratosis both in terms of histological features and the activation of FGFR3/FOXN1. In addition, strong expression of FGF2 and FGFR4 was observed in the tumor lesions of DF. Expression patterns of FGFR3/FOXN1 and FGF2/FGFR4 in DF were in contrast with those of DFSP. The activation of FGFR signaling pathways may be not only relevant to the pathogenesis of DF, but also very useful in the differential diagnosis of DF and DFSP.