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Minerva Pediatrica 2017 August;69(4):288-97

DOI: 10.23736/S0026-4946.17.04925-8

Copyright © 2017 EDIZIONI MINERVA MEDICA

language: English

What’s new with common genetic skin disorders?

Janice E., MA 1, Jennifer L. HAND 2, 3, 4

1 Mayo Clinic School of Medicine, Rochester, MN, USA; 2 Department of Dermatology, Rochester, MN, USA; 3 Department of Clinical Genomics, Rochester, MN, USA; 4 Department of Pediatric and Adolescent Medicine, Rochester, MN, USA


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Familiar genetic disorders such as neurofibromatosis type I (NF1), tuberous sclerosis complex (TSC), oculocutaneous albinism (OCA), basal cell nevus syndrome (BCNS), incontinentia pigmenti, ichthyosis, and epidermolysis bullosa (EB) have prominent, cutaneous manifestations. This review describes recent advances in knowledge concerning the pathophysiology, diagnosis, and treatment of these skin features. Specifically, clinical diagnostic criteria for incontinentia pigmenti, ichthyosis, and tuberous sclerosis have been updated. Additionally, there have been considerable advancements in the technology used in the molecular diagnoses of these conditions. In the case of TSC, the discovery that a portion of TSC mutations are missed due to mosaicism is driving the development of new diagnostic methods. Also, scientists are also seeking minimally invasive methods of genetic diagnosis, as in the case of using hair follicles to diagnose autosomal recessive congenital ichythosis (ARCI). Finally, there are innovative targeted medical therapies being developed that serve as promising tools in the care of patients afflicted with conditions including ichthyosis and EB.


KEY WORDS: Neurofibromatoses - Tuberous sclerosis - Ichthyosis - Incontinentia pigmenti - Basal cell nevus syndrome - Albinism, oculocutaneous

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