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1. Autosomal-dominant hypotrichosis with woolly hair: Novel gene locus on chromosome 4q35.1-q35.2.

Author

Annika E Schlaweck, Rachid Tazi-Ahnini, F Buket Ü Basmanav, Javed Mohungoo, Sandra M Pasternack-Ziach, Manuel Mattheisen, Ana-Maria Oprisoreanu, Aytaj Humbatova, Sabrina Wolf, Andrew Messenger, and Regina C Betz

Subjects
Medicine, Science
Abstract

Hypotrichosis simplex (HS) with and without woolly hair (WH) comprises a group of rare, monogenic disorders of hair loss. Patients present with a diffuse loss of scalp and/or body hair, which usually begins in early childhood and progresses into adulthood. Some of the patients also show hair that is tightly curled. Approximately 10 genes for autosomal recessive and autosomal dominant forms of HS have been identified in the last decade, among them five genes for the dominant form. We collected blood and buccal samples from 17 individuals of a large British family with HS and WH. After having sequenced all known dominant genes for HS in this family without the identification of any disease causing mutation, we performed a genome-wide scan, using the HumanLinkage-24 BeadChip, followed by a classical linkage analysis; and whole exome-sequencing (WES). Evidence for linkage was found for a region on chromosome 4q35.1-q35.2 with a maximum LOD score of 3.61. WES led to the identification of a mutation in the gene SORBS2, encoding sorbin and SH3 domain containing 2. Unfortunately, we could not find an additional mutation in any other patient/family with HS; and in cell culture, we could not observe any difference between cloned wildtype and mutant SORBS2 using western blotting and immunofluorescence analyses. Therefore, at present, SORBS2 cannot be considered a definite disease gene for this phenotype. However, the locus on chromosome 4q is a robust and novel finding for hypotrichosis with woolly hair. Further fine mapping and sequencing efforts are therefore warranted in order to confirm SORBS2 as a plausible HS disease gene.

Published
2019
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2. Good Practice Guidelines for the Assessment and Treatment of Adults with Gender Dysphoria

Author

Richard Green, Melissa Hines, Susan Carr, Del Loewenthal, Penny Lenihan, Michelle Ellis, James Barrett, Mike Besser, Andrew Messenger, Darren Skinner, Gabriel Ivbijaro, Vicky Williams, Emma Martin, Mark Hamilton, Daniel Wilson, Eli Coleman, Tracey Dean, Terry Reed, Dominic Walsh, Ben Thom, David Ralph, Angela Clayton, Jim Lucey, Jane Thornton, Dai Davies, Walter Pierre Bouman, Russell Reid, David Ward, Su Sethi, Philip McGarry, Paul Sutcliffe, John Stevens, Brian Ferguson, Maxine Rathbone, Alex Lawrence, Deenesh Khoosal, Domenico Di Ceglie, Tim R. Terry, Kevan Wylie, Michelle Bridgman, and Susan Brechin

Subjects
Value (ethics), Gender dysphoria, business.industry, Best practice, medicine.disease, Mental health, Gender reassignment surgery, Transsexual, Psychiatry and Mental health, Clinical Psychology, Nursing, Well-being, Transgender, Medicine, business
Abstract

The Good Practice Guidelines for the Assessment and Treatment of Adults with Gender Dysphoria is a publication of the Intercollegiate Committee of the Royal College of Psychiatrists. The overall goal of the Good Practice Guidelines is to provide clinical guidance for health professionals to assist transsexual, transgender, and gender nonconforming people with safe and effective pathways to achieving lasting personal comfort with their gendered selves, in order to maximize their overall health, psychological well-being, and self-fulfillment. This assistance may include primary care, gynaecologic and urologic care, reproductive options, voice and communication therapy, mental health services (e.g., assessment, counselling, psychotherapy), and hormonal and surgical treatments. The Good Practice Guidelines are based on the best available science and expert professional consensus. The Good Practice Guidelines articulate standards of care while acknowledging the role of making informed choices and the value of ...

Published
2014
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3. European Consensus on the evaluation of women presenting with excessive hair growth

Author

Ulrike, Blume-Peytavi, Stephen, Atkin, Jerry, Shapiro, Stuart, Lavery, Ramon, Grimalt, Rolf, Hoffmann, Uwe, Gieler, Andrew, Messenger, and Skin Academy

Subjects
Sociology of scientific knowledge, medicine.medical_specialty, Pathology, Hirsutism, International Cooperation, Alternative medicine, MEDLINE, Excessive hair growth, Dermatology, Medical Records, Risk Factors, Medicine, media_common.cataloged_instance, Humans, European Union, European union, hirsutism, Societies, Medical, media_common, Medical education, Evidence-Based Medicine, business.industry, Dermatological diseases, Evidence-based medicine, medicine.disease, Premenopause, Female, business
Abstract

Our objective was to develop clinical practice guidance for the evaluation of hirsutism in premenopausal women. The Skin Academy is led by an international interdisciplinary team of experts, and aims to use the latest scientific and clinical data in selected dermatological diseases, to promote awareness, education and best clinical practice, thus improving patient care. The Skin Academy is an international platform designed to drive and develop education and awareness programmes, and to transfer scientific knowledge in dermatology across Europe and wider geographical areas. Consensus was guided by systematic review and discussion of current clinical practice across Europe during several group meetings of The Skin Academy, supported by conference calls, and e-mail communications. The outcome of the discussions was an evaluation form to be used by the clinician to help evaluate a patient presenting with excessive hair growth. This round-table expert opinion consensus paper, and the Diagnostic Evaluation Form it contains, is presented for discussion by the wider dermatology community.

Published
2009

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