I received a call from Dr. El-Hattab, a pediatrician, regarding a 7-week-old patient. He was born prematurely, not eating or growing, and had excessively dry skin that created scales on his face, chest, and back. The pediatrics team called me to evaluate the patient and determine whether or not he had ichthyosis, a disorder in which patients present with dry, scaly, or thickened skin.
The baby’s other symptoms did not fit the bill of a classic ichthyosis vulgaris diagnosis, so I performed a biopsy, which came back negative. We had to think about another condition that might be causing the symptoms he was experiencing.
The dermatologist's perspective
This video is narrated by Hassan Galadari, MD, who helped diagnose an enzyme deficiency in an infant.
After much discussion with the family and the baby’s pediatric team, we performed another biopsy that revealed he had an enzyme deficiency and that was why he was failing to thrive. This deficiency was also the cause of the baby’s dry skin and scales. Once we started treatment, the baby quickly improved — eating and growing, and all of the skin manifestations disappeared.
It was very important to make this diagnosis as early as possible, and we needed a team to do it. Had the diagnosis not been made, the baby could have faced several long term repercussions affecting both his mental and physical capabilities. I just saw the boy recently — he’s almost a year old, is starting to walk, and is doing very, very well.
The dermatologist's perspective
“Had the diagnosis not been made, the baby could have faced several long term repercussions affecting both his mental and physical capabilities.”
─ Hassan Galadari, MD Galadari Derma Clinic Dubai, United Arab Emirates
Patient & physician stories
Learn how board-certified dermatologists have helped patients with serious skin disease and collaborated with other doctors to enhance patient care.
