What's new with common genetic skin disorders?

Janice E. Ma, Jennifer L. Hand

Research output: Contribution to journalReview articlepeer-review

2 Scopus citations


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
Issue number4
StatePublished - Aug 2017


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

ASJC Scopus subject areas

  • Pediatrics, Perinatology, and Child Health


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