Twins Born with Plastic-Like Skin: Nail-Hard Skin with Cracks; A Rare Condition Affecting One in 500,000

Four days ago, in Bikaner, Rajasthan, twins—a boy and a girl—were born with a rare condition. Their skin has a plastic-like texture, appearing as hard and cracked as nails. The twins are diagnosed with a rare genetic disorder called Harlequin-type Ichthyosis.

Doctors state that while they have previously treated children with Harlequin-type Ichthyosis, this may be the first case of twins with this condition in India. Harlequin-type Ichthyosis is classified as a rare disease and is seen in only one in every 500,000 births.

According to medical experts, it is not necessary for the parents to have this disease themselves. Instead, it spreads from parents to children through chromosomal mutations, where the parents may carry the gene but are unaffected. Tracing the hereditary path of this disease is possible only through detailed medical history.

Twins with Harlequin-Type Ichthyosis Born in Bikaner, Rajasthan

On November 3, twins suffering from Harlequin-type Ichthyosis were born in a private hospital in Nokha, Bikaner. Their skin is extremely hard, with a light pink hue similar to nails, and has deep cracks that have caused it to split open. 

Due to their critical condition at birth, they were referred to Bikaner’s PBM Hospital on November 5 for specialized care.

Rare Genetic Disorder: Twins with Harlequin-Type Ichthyosis Under Critical Care in Bikaner

Dr. G.S. Tanwar, a pediatric specialist at PBM Hospital, reported that the family brought their critically ill twins to the hospital on November 5. The twins, born with Harlequin-type Ichthyosis, a genetic disorder that affects one in every 500,000 births, have been under treatment in the hospital’s NICU since arrival. This may be the first documented case of twins with this condition in India.

Children with this disorder typically have a challenging life expectancy, often living only up to 1.5 years, though some may survive up to 25 years. However, life remains difficult. In the first year, their skin stays red, joints contract, and organ development is delayed. At birth, their skin may even leak blood.

Dr. Tanwar stated that both twins are in critical condition and will remain in the hospital until stabilized. The dermatology department at Sardar Patel Medical College is also supporting their treatment.

Harlequin-Type Ichthyosis: Risk to Future Generations Even if Parents are Healthy

According to Dr. G.S. Tanwar, Harlequin-type Ichthyosis is transmitted to a child through autosomal recessive genes, which means individuals can carry the gene without showing symptoms. For instance, if either or both parents inherit this gene mutation from their own family line, they may carry it silently. This implies that even if parents do not have the disease, their future child may still be affected.

This genetic mutation may have originated generations back, making it difficult to trace. In the case of these twins, neither parent has the disease, but one or both are likely carriers.

To keep the twins’ skin hydrated, they are receiving Vitamin A therapy along with piped milk feeding. Dr. Tanwar explained that caring for these infants is an extremely challenging task. Despite the high mortality rate associated with this condition, every effort is being made to save their lives.

Most children with this disorder do not survive beyond a week. Those who do live may reach 10 months to 25 years with advanced medical care. Dr. Tanwar added that a previous pregnancy by this mother resulted in a stillbirth, suggesting that future pregnancies could also carry the risk of this disease.

Signs of Harlequin-Type Ichthyosis Observed at Birth

Newborns with Harlequin-type Ichthyosis exhibit distinctive symptoms, including:

• Deep cracks on the skin
• Eyes that may not close or open fully
• Constantly open mouth
• Ears fused with the head
• Small, swollen hands and feet
• Difficulty breathing
• Risk of dehydration

These symptoms require immediate medical attention to manage complications and improve the infant’s chances of survival.