What's new with common genetic skin disorders?

Janice E. Ma, Jennifer L. Hand

Research output: Contribution to journalReview article

Abstract

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.

Original languageEnglish (US)
Pages (from-to)288-297
Number of pages10
JournalMinerva Pediatrica
Volume69
Issue number4
DOIs
StatePublished - Aug 1 2017

Fingerprint

Inborn Genetic Diseases
Tuberous Sclerosis
Ichthyosis
Incontinentia Pigmenti
Epidermolysis Bullosa
Skin
Oculocutaneous Albinism
Basal Cell Nevus Syndrome
Skin Manifestations
Neurofibromatosis 1
Mosaicism
Hair Follicle
Patient Care
Technology
Mutation
Therapeutics

Keywords

  • Albinism, oculocutaneous
  • Basal cell nevus syndrome
  • Ichthyosis
  • Incontinentia pigmenti
  • Neurofibromatoses
  • Tuberous sclerosis

ASJC Scopus subject areas

  • Pediatrics, Perinatology, and Child Health

Cite this

What's new with common genetic skin disorders? / Ma, Janice E.; Hand, Jennifer L.

In: Minerva Pediatrica, Vol. 69, No. 4, 01.08.2017, p. 288-297.

Research output: Contribution to journalReview article

Ma, Janice E. ; Hand, Jennifer L. / What's new with common genetic skin disorders?. In: Minerva Pediatrica. 2017 ; Vol. 69, No. 4. pp. 288-297.
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