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, cilt.15, sa.3, ss.74-76, 2021 (ESCI) identifier identifier

  • Yayın Türü: Makale / Tam Makale
  • Cilt numarası: 15 Sayı: 3
  • Basım Tarihi: 2021
  • Doi Numarası: 10.4103/tjd.tjd_34_21
  • Dergi Adı: TURK DERMATOLOJI DERGISI-TURKISH JOURNAL OF DERMATOLOGY
  • Derginin Tarandığı İndeksler: Emerging Sources Citation Index (ESCI), Scopus, CINAHL, EMBASE
  • Sayfa Sayıları: ss.74-76
  • Anahtar Kelimeler: Biotin, biotinidase deficiency, desquamation, MANIFESTATIONS
  • Hacettepe Üniversitesi Adresli: Evet

Özet

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.