An unusual case of biotinidase deficiency with fingertip desquamation


Olgac A., Kilavuz S., Kilic M., ÖZGÜL R. K., KASAPKARA Ç. S.

TURK DERMATOLOJI DERGISI-TURKISH JOURNAL OF DERMATOLOGY, vol.15, no.3, pp.74-76, 2021 (ESCI) identifier identifier

  • Publication Type: Article / Article
  • Volume: 15 Issue: 3
  • Publication Date: 2021
  • Doi Number: 10.4103/tjd.tjd_34_21
  • Journal Name: TURK DERMATOLOJI DERGISI-TURKISH JOURNAL OF DERMATOLOGY
  • Journal Indexes: Emerging Sources Citation Index (ESCI), Scopus, CINAHL, EMBASE
  • Page Numbers: pp.74-76
  • Keywords: Biotin, biotinidase deficiency, desquamation, MANIFESTATIONS
  • Hacettepe University Affiliated: Yes

Abstract

Biotinidase deficiency (BD) is an autosomal recessively inherited inborn error of metabolism that causes multisystemic manifestations, including developmental delay, seizures, hypotonia, vision problems, hearing loss, ketolactic acidosis, and various cutaneous findings at the early stages of life. Treatment consists of oral biotin that is effective in the prevention of complications. We present a case of a 4-year-old boy with partial BD with fingertip desquamation that could be resolved by increasing biotin dosage.