Rod Sinclair

Loss-of-function mutations of an inhibitory upstream ORF in the human hairless transcript cause Marie Unna hereditary hypotrichosis

Marie Unna hereditary hypotrichosis (MUHH) is an autosomal dominant form of genetic hair loss. In a large Chinese family carrying MUHH, we identified a pathogenic initiation codon mutation in U2HR, an inhibitory upstream ORF in the 5′ UTR of the gene encoding the human hairless homolog (HR). U2HR is predicted to encode a 34–amino acid peptide that is highly conserved among mammals. In 18 more families from different ancestral groups, we identified a range of defects in U2HR, including loss of initiation, delayed termination codon and nonsense and missense mutations. Functional analysis showed that these classes of mutations all resulted in increased translation of the main HR physiological ORF. Our results establish the link between MUHH and U2HR, show that fine-tuning of HR protein levels is important in control of hair growth, and identify a potential mechanism for preventing hair loss or promoting hair removal.

Role of genetics and sex steroid hormones in male androgenetic alopecia and female pattern hair loss: An update of what we now know

The role of genetic predisposition and the influence of sex steroid hormones are indisputable to the pathogenesis of male androgenetic alopecia (MAGA). The role of sex steroid hormones in female pattern hair loss (FPHL) is less known. A good knowledge of the pathophysiology underlying MAGA and FPHL empowers the clinician to confidently counsel patients and make informed therapeutic decisions. Vigorous research in recent years has provided greater insight into the role of genetics and sex steroids in physiological hair growth and cycling, as well as in hair follicle miniaturization, the histological hallmark of MAGA and FPHL. In the present review article directed towards clinicians, we discuss the current understanding of the role of androgens and oestrogens, as well as genetic associations with MAGA and FPHL. We also briefly discuss the interpretation of direct‐to‐consumer genetic testing for baldness to help clinicians understand the limitations of such tests.

Treatment of female pattern hair loss with the androgen receptor antagonist flutamide

Female pattern hair loss is a common but difficult to manage condition. Commonly used treatments include oral antiandrogens such as spironolactone and topical minoxidil. The response to treatment is variable. We report a woman whose hair loss progressed while using spironolactone and topical minoxidil in combination, but reversed with flutamide, a potent androgen receptor antagonist.

Clinical observations in alopecia areata: Implications and hypotheses

Alopecia areata (AA) is a T‐cell‐mediated hair loss disorder but the exact cause is unknown. In this report we describe patterns of onset, regrowth and relapse in AA and propose potential underlying mechanisms. We believe that these aspects of AA require integration into modern theories of AA pathogenesis.

Hirsutism: from Brazil to a place near you

Importance of the field: Hirsutism is the excess of terminal hairs in females and can result in immense distress. Women often spend significant time and funds seeking permanent hair removal. Commercially available physical therapies have usually already been accessed before presenting to the clinician for treatment. Areas covered in the review: We give a brief outline of physical therapies in the treatment of hirsutism with an emphasis on recently emerging hand-held laser hair removal devices for home use, which will become an increasingly important hair removal modality. The current evidence for topical ornithine decarboxylase inhibitor, oral antiandrogens, ovarian suppression and insulin sensitizers in the treatment of hirsutism is also reviewed. What the reader will gain: With advances in home laser hair removal systems the role of the clinician will increasingly become the use of pharmacotherapy in the treatment of resistant hirsutism. This article provides a review of the current literature for the use of pharmacotherapy. Take home message: Despite the availability of a range of physical and pharmacotherapies for the treatment of hirsutism, permanent hair removal remains elusive.

The Australasian Society for Dermatology Research: A New Player on the Team

© 2009 The Society for Investigative Dermatology www.jidonline.org 1843 the Australasian College of Dermatologists was formed in 1966, and membership has since grown from a few dozen to more than 350 fellows and 60 trainees. Dermatology in Australia has a strong clinical focus and most dermatologists are in full-time private practice. Australia, with a population of just over 21 million people, has the highest incidence of skin cancer in the world, and skin diseases are the second most common group of diseases in Australia. The promotion of the study of and research in dermatology is a stated aim in the constitution of our college, and support for research has come through the Scientific Research Fund, which awards annual grants of about

Demodex in an aerobic environment on the eyelashes.

15,000 to

Commentary: Start with the KISS principle

25,000 (Australian dollars). The discipline of academic dermatology is relatively new to Australia; the first chair of dermatology in the country was established at the University of Sydney in 1988. Before then, there were no dermatology research laboratories and no academic departments of dermatology. The second chair was established in 1995 at the University of Melbourne and the third in 2007 at the University of Queensland. The Australasian College of Dermatologists has conducted annual scientific meetings since 1966. Attendance is restricted to fellows of the college, except by special invitation or dispensation from the college. Comparatively little laboratory-based research was reported at these meetings until 1988. In 2003, in recognition that most dermatology research in Australia was conducted independent of dermatologists and that there was a need to foster interaction and collaboration between clinical dermatologists and research scientists, the Australasian Society for Dermatology Research (ASDR) was formed to provide a forum to promote investigative research into all aspects of skin biology and disease. The mission, goals, structural organization, and activities of the Society for Investigative Dermatology (SID) in the United States and the British Society for Investigative Dermatology (BSID) were studied, along with the model of interaction between the SID and the American Academy of Dermatology. A constitution was constructed, and the resulting entity was registered as a not-for-profit organization. Letters of intent were written to the SID, the BSID, the Japanese Society for Investigative Dermatology, and the European Society for Dermatological Research. The SID was particularly helpful in assisting with establishing the ASDR through information, advice, seed funding grants, and assistance with the publication of annual meeting abstracts in the Journal of Investigative Dermatology. The first president of the society was Ross Barnetson and the second was Rod Sinclair. The current president is Gary Halliday, and Prue Hart is the president-elect. The board was constructed with equal representation of dermatologists and basic scientists and included representatives from all major states in Australia. The board decided to run annual scientific meetings in tandem with the Australasian College of Dermatologists in May of each year. The first meeting of the ASDR was held in Sydney in May 2004 and attracted 100 participants. Since then, the meetings have been held yearly in the Australian cities hosting the Australasian College of Dermatologists meeting: Perth, Melbourne, Adelaide, Sydney, and the Gold Coast in 2009. Initially, the organization of the ASDR meetings was greatly enhanced by Serono Symposia International. Visiting speakers at the society meetings have included Daniel Sauder (United States) in 2004; Thomas Schwarz (Germany), James Krueger (United States), and John McGrath (United Kingdom) in 2005; Eugene Healy (United Kingdom) and Kristian Reich (Germany) in 2006; Colin Jahoda (United Kingdom) in 2007; George Cotsarelis (United States) and Richard Gallo (United States) in 2008; and Meenhard Herlyn (United States), June Robinson (United States), and Gillian Murphy (Ireland) in 2009. The yearly meetings have been well attended (80–100 participants), mainly by scientists The Australasian Society for Dermatology Research: A New Player on the Team

Erratum: Loss-of-function mutations of an inhibitory upstream ORF in the human hairless transcript cause Marie Unna hereditary hypotrichosis (Nature Genetics (2009) 41 (228-233))

measure of severity in individuals with hyperhidrosis. Qual. Life Res. 1999; 8: 693–8. 5. Anders D, Moosbauer S, Naumann MK et al. Craniofacial hyperhidrosis successfully treated with botulinum toxin type A. Eur. J. Dermatol. 2008; 18: 87–8. 6. Kinkelin I, Hund M, Naumann M et al. Effective treatment of frontal hyperhidrosis with botulinum toxin A. Br. J. Dermatol. 2000; 143: 824–7. 7. Berth-Jones J. Flushing and flushing syndromes. In: Burns T, Breathnach S, Cox N et al. (eds). Rook’s Textbook of Dermatology, 7 edn. Oxford: Blackwell Scientific, 2004; 44.13–14.