What's New in Genetic Skin Diseases

Dermatol Clin. 2019 Apr;37(2):229-239. doi: 10.1016/j.det.2018.11.004.

Abstract

The discoveries of new genes underlying genetic skin diseases have occurred at a rapid pace, supported by advances in DNA sequencing technologies. These discoveries have translated to an improved understanding of disease mechanisms at a molecular level and identified new therapeutic options based on molecular targets. This article highlights just a few of these recent discoveries for a diverse group of skin diseases, including tuberous sclerosis complex, ichthyoses, overgrowth syndromes, interferonopathies, and basal cell nevus syndrome, and how this has translated into novel targeted therapies and improved patient care.

Keywords: Basal cell nevus syndrome; Congenital ichthyoses; Genodermatoses; Interferonopathies; Next-generation sequencing; PIK3CA-related overgrowth spectrum; Targeted therapeutics; Tuberous sclerosis complex.

Publication types

  • Review

MeSH terms

  • Autoimmune Diseases of the Nervous System / diagnosis
  • Autoimmune Diseases of the Nervous System / genetics
  • Autoimmune Diseases of the Nervous System / therapy
  • Basal Cell Nevus Syndrome / diagnosis
  • Basal Cell Nevus Syndrome / genetics
  • Basal Cell Nevus Syndrome / therapy
  • Class I Phosphatidylinositol 3-Kinases / antagonists & inhibitors
  • Dermabrasion
  • Dermatologic Agents / therapeutic use
  • Genetic Testing
  • Hereditary Autoinflammatory Diseases / diagnosis
  • Hereditary Autoinflammatory Diseases / genetics
  • Hereditary Autoinflammatory Diseases / therapy
  • High-Throughput Nucleotide Sequencing
  • Humans
  • Ichthyosiform Erythroderma, Congenital / diagnosis
  • Ichthyosiform Erythroderma, Congenital / genetics
  • Ichthyosiform Erythroderma, Congenital / therapy
  • Janus Kinase Inhibitors / therapeutic use
  • Laser Therapy
  • Lipoma / diagnosis
  • Lipoma / genetics
  • Lipoma / therapy
  • Molecular Diagnostic Techniques
  • Mosaicism
  • Musculoskeletal Abnormalities / diagnosis
  • Musculoskeletal Abnormalities / genetics
  • Musculoskeletal Abnormalities / therapy
  • Nervous System Malformations / diagnosis
  • Nervous System Malformations / genetics
  • Nervous System Malformations / therapy
  • Nevus / diagnosis
  • Nevus / genetics
  • Nevus / therapy
  • Pityriasis Rubra Pilaris / diagnosis
  • Pityriasis Rubra Pilaris / genetics
  • Pityriasis Rubra Pilaris / therapy
  • Protein Kinase Inhibitors / therapeutic use
  • Proteus Syndrome / diagnosis
  • Proteus Syndrome / genetics
  • Proteus Syndrome / therapy
  • Proto-Oncogene Proteins c-akt / antagonists & inhibitors
  • Sequence Analysis, DNA
  • Skin Diseases, Genetic / diagnosis*
  • Skin Diseases, Genetic / genetics
  • Skin Diseases, Genetic / therapy*
  • Sunscreening Agents / therapeutic use
  • TOR Serine-Threonine Kinases / antagonists & inhibitors
  • Tuberous Sclerosis / diagnosis
  • Tuberous Sclerosis / genetics
  • Tuberous Sclerosis / therapy
  • Ustekinumab / therapeutic use
  • Vascular Malformations / diagnosis
  • Vascular Malformations / genetics
  • Vascular Malformations / therapy

Substances

  • Dermatologic Agents
  • Janus Kinase Inhibitors
  • Protein Kinase Inhibitors
  • Sunscreening Agents
  • Class I Phosphatidylinositol 3-Kinases
  • PIK3CA protein, human
  • Proto-Oncogene Proteins c-akt
  • TOR Serine-Threonine Kinases
  • Ustekinumab

Supplementary concepts

  • Aicardi-Goutieres syndrome
  • Congenital Lipomatous Overgrowth, Vascular Malformations, and Epidermal Nevi
  • Familial pityriasis rubra pilaris