East Jerusalem Newborn’s Life with Rare Genetic Syndrome Saved at Jerusalem Hospital

East Jerusalem Newborn’s Life with Rare Genetic Syndrome Saved at Jerusalem Hospital

Because members of some cultures, especially those in Arab countries, still marry first cousins, inbreeding (the medical term is consanguinity) can cause serious genetic defects. One of the rarest conditions is called Collodion Baby Syndrome, ichthyosis lamellaris – a disease that causes abnormal development of the skin and the growth of a cellophane-like membrane that does not properly protect the soft baby’s body. There is no cure, but the symptoms can be relieved.

According to an article published a decade ago in Dermatological Medicine, only about 270 cases of collodion babies have been reported in the medical literature since 1892 when it was first named. While underreported, it is believed to appear in one out of 300,000 to 600,000 infants. Both parents must carry one copy of the defective gene for a child to be born with the disorder. Carriers of a recessive gene usually do not show any signs or symptoms of the disorder.

Infants with the condition have a yellow, shiny, tight parchment-like membrane stretched over the skin, sometimes turning into “fish-like” scales. Although the collodion membrane disappears in the newborn, neonatal complications can occur in 45% of all collodion babies, leading to a death rate of about one in 10 newborns during the first few weeks of life because the membrane is not enough to keep out harmful bacteria and other pathogens and the baby has a low body temperature. 

The “cellophane-like” covering is shed 10 to 14 days after birth, revealing the main symptom of the disease – extensive scaling of the skin caused by hyperkeratosis. As the baby grows, the scaling tends to be concentrated around joints in the armpits, groin and inside of the elbow and the neck. The scales often tile the skin and may resemble fish scales. In addition, the scaling of the skin later prevents normal sweating, so warm weather and/or vigorous exercise can cause problems.

Such a baby, born in an east Jerusalem hospital and weighing only two kilograms at birth, was treated and then discharged and sent home. But 10 days later, the baby – Amar Abu Farha – became apathetic and suffered from low body temperature. His parents rushed him to Shaare Zedek Medical Center in the western part of the Israel’s capital. 

“We noticed that Amar stopped responding and developed an alarming apathy,” said his father, Amjad. “His body temperature was only 33 degrees instead of 37. We realized there was a problem and immediately took him to Shaare Zedek.”

He reached the medical center in critical condition. Specialists in the pediatric intensive care unit identified the presence of a virulent bacterium that had spread in his body due to the syndrome from which he suffers.

As there was grave concern for his life, he was attached to a respiratory and put under anesthesia. Doctors fought for his life, giving his medication and treatment that helped him breathe. Fortunately, his condition improved, and after 12 days of hospitalization he was released to his home in good condition and is expected to improve.

“Due to a genetic mutation, this disorder involves the development of the skin, which – among other things – exposes the infant to the penetration of dangerous bacteria from the external environment,” saod  Dr. Amir Zilkha, a senior physician in the pediatric intensive care unit at the medical Center.

“Apart from the risk of infections, the lack of normal skin also causes loss of fluids and body heat. Some of the babies recover completely and spontaneously in a few works, but others develop chronic skin disease that requires constant treatment.” 

“I thank the staff at Shaare Zedek for not giving up and saving our Amar,” said Amjad. “With every day that passes, his condition improves, and we thank God we got him back.”