Turkish Journal of Dermatology

CASE REPORT
Year
: 2021  |  Volume : 15  |  Issue : 3  |  Page : 74--76

An unusual case of biotinidase deficiency with fingertip desquamation


Asburçe Olgac1, Sebile Kilavuz2, Mustafa Kılıç1, Rıza Köksal Özgül3, Çiğdem Seher Kasapkara4 
1 Department of Pediatric Metabolic Diseases, Ankara Dr. Sami Ulus Children’s Hospital, Ankara, Turkey
2 Department of Pediatric Metabolic Diseases, Van Bölge Training and Research Hospital, Van, Turkey
3 Department of Pediatric Metabolic Diseases, Hacettepe University, Ankara, Turkey
4 Department of Pediatric Metabolic Diseases, Ankara Yıldırım Beyazıt University, MD, Ankara, Turkey

Correspondence Address:
Dr. Asburçe Olgac
Division of Metabolism, Pediatric Metabolic Unit, Dr. Sami Ulus Children’s Hospital, Ankara.
Turkey

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.


How to cite this article:
Olgac A, Kilavuz S, Kılıç M, Özgül RK, Kasapkara &S. An unusual case of biotinidase deficiency with fingertip desquamation.Turk J Dermatol 2021;15:74-76


How to cite this URL:
Olgac A, Kilavuz S, Kılıç M, Özgül RK, Kasapkara &S. An unusual case of biotinidase deficiency with fingertip desquamation. Turk J Dermatol [serial online] 2021 [cited 2022 Jan 19 ];15:74-76
Available from: https://www.tjdonline.org/article.asp?issn=1307-7635;year=2021;volume=15;issue=3;spage=74;epage=76;aulast=Olgac;type=0