Machine learning (ML) has the potential to improve the dermatologist's practice from diagnosis to personalized treatment. Recent advancements in access to large datasets (e.g., electronic medical records, image databases, omics), faster computing, and cheaper data storage have encouraged the development of ML algorithms with human-like intelligence in dermatology. This article is an overview of the basics of ML, current applications of ML, and potential limitations and considerations for further development of ML. We have identified five current areas of applications for ML in dermatology: (1) disease classification using clinical images; (2) disease classification using dermatopathology images; (3) assessment of skin diseases using mobile applications and personal monitoring devices; (4) facilitating large-scale epidemiology research; and (5) precision medicine. The purpose of this review is to provide a guide for dermatologists to help demystify the fundamentals of ML and its wide range of applications in order to better evaluate its potential opportunities and challenges.

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Technological advances have allowed improvements in genome reference sequence assemblies. Here, we combined long- and short-read sequence resources to assemble the genome of a female Great Dane dog. This assembly has improved continuity compared to the existing Boxer-derived (CanFam3.1) reference genome. Annotation of the Great Dane assembly identified 22,182 protein-coding gene models and 7,049 long noncoding RNAs, including 49 protein-coding genes not present in the CanFam3.1 reference. The Great Dane assembly spans the majority of sequence gaps in the CanFam3.1 reference and illustrates that 2,151 gaps overlap the transcription start site of a predicted protein-coding gene. Moreover, a subset of the resolved gaps, which have an 80.95% median GC content, localize to transcription start sites and recombination hotspots more often than expected by chance, suggesting the stable canine recombinational landscape has shaped genome architecture. Alignment of the Great Dane and CanFam3.1 assemblies identified 16,834 deletions and 15,621 insertions, as well as 2,665 deletions and 3,493 insertions located on secondary contigs. These structural variants are dominated by retrotransposon insertion/deletion polymorphisms and include 16,221 dimorphic canine short interspersed elements (SINECs) and 1,121 dimorphic long interspersed element-1 sequences (LINE-1_Cfs). Analysis of sequences flanking the 3′ end of LINE-1_Cfs (i.e., LINE-1_Cf 3′-transductions) suggests multiple retrotransposition-competent LINE-1_Cfs segregate among dog populations. Consistent with this conclusion, we demonstrate that a canine LINE-1_Cf element with intact open reading frames can retrotranspose its own RNA and that of a SINEC_Cf consensus sequence in cultured human cells, implicating ongoing retrotransposon activity as a driver of canine genetic variation.

eneralized pustular psoriasis (GPP) is an orphan disease characterized by the rapid appearance of sterile pustules and generalized erythema. Patients are often systemically ill and may experience severe organ dysfunction and rarely death. The genetic risk factors for pustular psoriasis are different from other types of psoriasis. To date, variations have been identified in the following genes: IL36RN (interleukin-36 receptor antagonist), CARD14 (caspase recruitment domain family member 14), AP1S3 (adapter related protein complex 1 subunit sigma 3), SERPINA3 (serpin family A member 3), and MPO (myeloperoxidase); however, the majority of patients do not have a known genetic variant. 1 Owing to the rarity of GPP, there is limited information about the natural disease course. The only epidemiological data from the United States is a report of 63 patients seen over 29 years at a single institution. 2 The objective of this study is to describe the clinical characteristics, natural disease course, treatments, and health care utilization of patients with GPP across the United States. Methods Study Design and PopulationThis is a retrospective, longitudinal case series of adults (≥18 years) with a diagnosis of GPP confirmed by a dermatologist (January 1, 2007-December 31, 2018) (Table 1). Up to 5 potential cases were identified from each of 20 participating sites' electronic health records or site-specific databases, starting with cases seen most recently. All diagnoses were confirmed by the principal investigator at each site at the time of data entry. Only patients who met the European Rare and Severe Psoriasis Expert Network (ERASPEN) consensus definition of GPP with documentation of "primary, sterile, macroscopically visible pustules on nonacral skin, excluding cases where pustulation is restricted to psoriatic plaques" 3 and had had a dermatology encounter with active pustular disease during the study period were included.IMPORTANCE Generalized pustular psoriasis (GPP) is a chronic, orphan disease with limited epidemiological data.OBJECTIVE To describe the clinical characteristics, treatments, longitudinal disease course, and disease-specific health care utilization among patients with GPP across the United States. DESIGN, SETTING, AND PARTICIPANTSA retrospective longitudinal case series involving 95 adults who met the European Rare and Severe Psoriasis Expert Network consensus definition for GPP and were treated at 20 US academic dermatology practices between January 1, 2007, and December 31, 2018. MAIN OUTCOMES AND MEASURESThe primary outcome is to describe the patient characteristics, associated medical comorbidities, treatment patterns complications, and GPP-specific health care utilization.RESULTS Sixty-seven of 95 patients (70.5%) were women (mean age, 50.3 years [SD, 16.1 years]). In the initial encounter, 35 patients (36.8%) were hospitalized and 64 (67.4%) were treated with systemic therapies. In total, more than 20 different systemic therapies were tried. During the follow-up period, 19 patients (35.8%) rep...

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