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Day 1
Friday, 09 April 2021
Day 2
Saturday, 10 April 2021
Day 3
Sunday, 11 April 2021
09 April 2021
10:00 am - 6:30 pm
Virtual Booths Open
A huge thank you to our Partners and Supporters for participating in the ACD ASM 2021.

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09 April 2021
1:45 pm - 3:35 pm
Welcome to the ASM
- Stream 1
Day one partner:
2:05 pm
Over the last 25 years the molecular basis of many inherited skin diseases has been revealed. Autosomal recessive diseases, characterised by bi-allelic loss-of-function mutations, have been ideally suited to candidate gene approaches – identifying loss of key structures or proteins to reveal clues to pathogenesis. Likewise, autosomal dominant genodermatoses have been dissected using classic genetic linkage and fine mapping studies. These days, however, many of the straightforward “low hanging fruit” diseases have been picked and characterised – but new approaches, including next generation sequencing, have emerged to track down those diseases that remain unpicked on the higher branches. Notably, whole exome sequencing has resulted in a plethora of new genodermatosis gene discoveries, many of which continue to provide fascinating and original insights into skin biology. Over the last decade more than 160 genodermatoses have been elucidated at a gene level, including 35 brand new inherited diseases. Next generation sequencing also enables gene hunting to be taken to another level in being able to understand complex phenotypes and to provide clinical insight. For example, gene hunting in consanguineous families may often reveal multiple recessive gene mutations contributing to phenotype. Moreover, modern gene hunting can often establish specific diagnoses before the full features manifest, thereby allowing for a new era of pre-emptive diagnostics that improve clinical skills and allow for better prognostication and management in the clinic. Precision genetic diagnoses also impact on improving treatments. For example, several arteriovenous malformations have been shown to result from activating mutations in the RAS/MAPK pathway, leading to clinical use of drugs such as trametinib (for MAP2K1 mutations) or vemurafenib (for BRAF mutations) instead of drugs such as sirolimus. Indeed, precision diagnostics through next generation sequencing is stratifying and personalising optimal therapies. This presentation will focus on modern gene hunting approaches, presenting new diseases and recent discoveries, as well as illustrating tangible new benefits for patients.
3:12 pm
3:15 pm
Genetic mosaicism can occur in any tissue, but is particularly apparent in the skin. Since Blaschko described his lines in 1901 and Happle attributed them to genetic mosaicism in the 1970s, cutaneous mosaicism has become mainstream. This lecture will explore the variety of dermatological presentations of genetic mosaicism with implications for diagnosis and management.

Reference: Moss C, Brown F. Chapter 62 Mosaicism and linear lesions. in Dermatology eds Bolognia JL, Schaffer JV, Cerroni L. Fourth Ed 2018, Elsevier

09 April 2021
09 April 2021
4:50 pm - 4:55 pm
Time for a quick stretch!
09 April 2021
Plenary - Stream 1
4:55 pm
Hair loss is common and has many causes, including the recently encountered condition, frontal fibrosing alopecia (FFA). First described in 1994 by Kossard, FFA is an inflammatory and scarring type of hair loss that almost exclusively affects women. Despite a dramatic recent increase in incidence, the aetiopathogenesis of FFA remains unknown, beyond that it is likely to represent a variant of lichen planopilaris. Its pathogenesis is characterized by immune‐mediated follicular destruction at the level of the hair bulge, which leads to a clinical phenotype of progressive frontotemporal hair and eyebrow loss that is often preceded by widespread body‐hair loss. Phenotypic review of 711 UK women with FFA showed that autoimmune disease, thyroid hormone abnormalities and oestrogen deficiency were more prevalent than in the general population. We also undertook genome-wide association studies in females from a UK cohort, comprising 844 cases and 3,760 controls, a Spanish cohort of 172 cases and 385 controls, and performed statistical meta-analysis. We observed genome-wide significant association with FFA at four loci: 6p21.1, 2p22.2, 8q24.22 and 15q2.1. Within 6p21.1, fine-mapping and conditional analysis indicated that the association is driven by allele HLA-B*07:02 (P=9.44×10−117, OR=5.22). At 2p22.2, Bayesian fine-mapping identified a putative causal missense variant in CYP1B1 (P=2.44x10−11, OR=1.65) encoding the homonymous xenobiotic- and hormone-processing enzyme. At 8q24.22, the most likely causal allele is located within ST3GAL1 (P=2.15x10−8, OR=1.34) which has been studied in the context of T cell homeostasis. At the 15q.26.1 locus, the most likely causal variant is in SEMA4B (P=8.12x10−10, OR=1.52) and co-localises with skin eQTLs (Pcoloc=0.99). A global, untargeted, case-control metabolomic study was performed to pursue the mechanistic relevance of CYP1B1, and a case-control gene-environment interaction study is underway to elucidate this further. Transcriptomic analysis of affected scalp tissue highlighted overrepresentation of transcripts pertinent to IFNγ, IL15 and JAK/STAT signalling. These findings characterise FFA as a genetically predisposed complex immuno-inflammatory disorder driven by HLA-B*07:02 and underpinned by causal variation in genes pertinent to T cell homeostasis and hormone and xenobiotic metabolism. The challenge remains, however, to identify at risk individuals, define disease triggers, and optimise preventative or early therapy.
5:15 pm
Whole genome sequencing has revolutionised our ability to diagnose genodermatoses, but clinical judgement is still needed to direct investigations, interpret results and counsel patients. This lecture recalls memorable patients where the diagnosis was not straightforward, illustrating important genetic principles.
09 April 2021
6:00 pm - 6:30 pm
Registrar Training
Workshop - Breakout
6:00 pm
A question sheet with a number of cases will be available beforehand, and answers will be discussed during the session.

#Australasian College of Dermatologists Annual Scientific Meeting 2021
#Australasian College of Dermatologists Annual Scientific Meeting 2021