Alopecia and hyperpigmentation in a neonatal patient with lanosterol synthase gene deficiency and Spectrin alpha, non-erythrocytic 1 mutation.

Abstract

Lanosterol synthase is required for cholesterol synthesis, and deficiencies have been associated with hypotrichosis as well as neuroectodermal syndromes including intellectual delay and epilepsy. Here, we report a case of lanosterol synthase deficiency in a 4-day-old patient who presented with alopecia and a previously unreported dermatologic manifestation of congenital localized hyperpigmentation.

• Authors: Teresa L Xiao, Adena E Rosenblatt
• Journal: Pediatric dermatology (Pediatr Dermatol) Vol. 39 Issue 6 Pg. 997-999 (Nov 2022) ISSN: 1525-1470 [Electronic] United States
• PMID: 35830358 (Publication Type: Case Reports, Journal Article)
• Copyright: © 2022 The Authors. Pediatric Dermatology published by Wiley Periodicals LLC.

Chemical References

• lanosterol synthase
• Spectrin

Topics

• Infant, Newborn
• Humans
• Spectrin (genetics)
• Alopecia (genetics, complications)
• Mutation
• Hyperpigmentation (genetics, complications)