In late July 2025, a premature infant was born in Madhya Pradesh's Rewa district, and it displayed serious skin defects right away.
As recently as one day before to delivery, the woman, Priyanka Patel, underwent two ultrasound scans as part of her usual prenatal treatment at both government and private facilities.
She unexpectedly went into labor two months early, even though she was guaranteed a healthy fetus.
At approximately 7 a.m., the baby was delivered normally, but it had odd physical characteristics and respiratory problems.
According to a clinical evaluation, the baby was a Collodion baby, which is distinguished by a tight, glossy membrane that sticks to the skin.
The disorder is caused by genetic mutations, usually autosomal recessive, that generally involve the transglutaminase-1 gene.
Congenital ichthyosis affects about 75% of collodion newborns; a small percentage may heal themselves.
Humidified incubators, topical emollients, fluid/electrolyte balance, antibiotics, and eye care for ectropion are all part of the management procedures.
The infant's hemodynamic stability was maintained, but within the first few days of life, there was an increase in skin cracking.
The youngster was lost to follow-up after the family, defying medical advice, took him home after five days.
The example highlights the difficulties in identifying uncommon genetic disorders in utero, despite routine examinations and scans.
Given consanguinity and the possibility of autosomal recessive illnesses, the instance emphasizes the value of genetic counseling.
It also demonstrates how important it is to be ready in neonatal intensive care units throughout regional healthcare settings.
The incident highlights the need for awareness about managing rare neonatal dermatological syndromes, improved genetic counseling, and enhanced neonatal ICU readiness.