TY  - JOUR
AU  - Tanasal, Hanny
AU  - Michaela, Iline
AU  - Danarti, Retno
PY  - 2025
DA  - 2025/01/08
TI  - A Case of Harlequin Ichthyosis: Improvement Survival Rate with Early Isotretinoin Therapy
JO  - OBM Genetics
SP  - 281
VL  - 09
IS  - 01
AB  - Harlequin ichthyosis (HI) is among the most severe hereditary skin conditions of autosomal recessive congenital ichthyosis (ARCI) in newborns, associated with a mutation of the ABCA12 gene. Patients have a typical clinical appearance at birth. A thick layer of armor-like scales covers the entire body. Affected newborns have abnormal facial features, such as ectropion, eclabium, and ears and nose flattening. Although HI was formerly assumed to be fatal, more intensive neonatal care and early retinoid therapy may improve the patients' survival rates. This case report aims to present a case of a 5-year-old boy born with HI who survived with isotretinoin treatment since day 5 of life. Despite advances in medical care, HI remains a challenging condition with an abnormality that lasts a lifetime and can lead to a variety of medical difficulties following birth.
SN  - 2577-5790
UR  - https://doi.org/10.21926/obm.genet.2501281
DO  - 10.21926/obm.genet.2501281
ID  - Tanasal2025
ER  -