Great advances have been made in the field of heritable skin disorders using next-generation sequencing (NGS) technologies (ie, whole-genome sequencing, whole-exome sequencing, whole-transcriptome sequencing, and disease-targeted multigene panels). When NGS first became available, the cost and lack of access to these technologies were limiting factors; however, with decreasing sequencing costs and the expanding knowledge base of genetic skin diseases, fundamental awareness of NGS has become prudent. The heritable ichthyoses comprise a genotypically and phenotypically heterogeneous group of monogenic keratinization disorders characterized by persistent scaling, with at least 55 distinct genes currently implicated in causing nonsyndromic and syndromic forms of the disease. By providing a simplified overview of available NGS techniques and applying them in the context of ichthyosis, one of the most common genodermatoses, we hope to encourage dermatologists to offer, when appropriate, genetic testing earlier in patients with unsolved presentations. With the aid of NGS, dermatologists can provide diagnostic certainty in cases of suspected genodermatoses and offer potentially life-changing genome-guided and targeted therapies as they become available.

Malignant adnexal tumours of the skin are a group of rare malignancies. These tumours can further differentiate into eccrine, apocrine, sebaceous, sweat duct, or ceruminous glands within the skin or follicular cells. Sebaceous carcinoma, a malignant adnexal tumour of the skin, is a rare and malignant tumour of the sebaceous glands. They can occur anywhere in the body where sebaceous glands are present, the most common being the head and neck region.

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Sofia
Journal Co-ordinator
Journal of Rare Disorders: Diagnosis & Therapy