Genetic skin disorder in infants: An overview and indications
In a world where new life is a cause for celebration, some infants are born with a rare and challenging condition known as Harlequin ichthyosis (HI). This severe form of ichthyosis, a group of skin disorders characterised by dry, thickened, and scaly skin, can be life-threatening for newborns.
Harlequin babies require neonatal intensive care unit (NICU) care due to the thick, hard, armor-like plates of skin that crack and split, leading to fissures. Facial feature distortion, difficulty with breathing and feeding, dehydration, life-threatening infections, fused ears, small swollen hands and feet, abnormal hearing, frequent respiratory infections, decreased joint mobility, hypothermia or difficulty with temperature regulation, and around half of affected infants may die within the first few months are common complications associated with HI [1][3].
Management of HI is primarily supportive and multidisciplinary. Skin care involves frequent application of moisturizing creams, petroleum jelly, antibiotics for infection control, and retinoid treatments to soften and reduce the thickened skin scales [1][3]. Humidified incubator care is employed to reduce fluid loss, maintain body temperature, and aid skin healing. Respiratory support may be necessary until nostril openings allow normal breathing, and tube feeding is often needed until lip deformities improve enough for oral feeding [1][3].
Infection prevention and treatment, fluid and electrolyte management, multidisciplinary care, and long-term management continue to focus on skin care, infection prevention, joint mobility, and growth support [1][3]. Despite advances in neonatal intensive care, HI remains a life-threatening condition with high early mortality, but improved supportive care has enhanced survival rates and quality of life for some infants [3].
Diagnosis of HI is based on the infant's appearance upon birth and genetic testing. Specialists may also look at a skin sample under a microscope to see if there are skin changes characteristic of HI. Genetic testing confirms the diagnosis by looking for a mutation in the ABCA12 gene [1][3].
Parents of children with the condition may find support or more information about the condition from communities like the Foundation for Ichthyosis and Related Skin Types. Genetic screening and counseling can determine if one or both couples carry the mutation in the ABCA12 gene [1][3].
It is an inherited autosomal recessive disorder that affects approximately 1 in 500,000 newborns. Other names for HI include ichthyosis fetalis, autosomal recessive congenital ichthyosis 4B, and Ichthyosis congenita [1][3].
Counseling may help individuals manage any psychological challenges that come with the condition. Some individuals may need physical or occupational therapy to help with restricted joint movement. Oral retinoids may be used to heal skin fissures and plate-like scales [1][3].
Despite the challenges, the survival rate of HI is rising, but the mortality rate is still high, at nearly 90% worldwide. Prenatal testing may be possible through skin, blood, or amniotic fluid samples, and nurses will place and monitor the infant in a humidified incubator [1][3].
Emollients and moisturizers are applied after a bath while the skin is still moist, and debridement, a procedure that removes bands of tissues, may be necessary in some cases [1][3]. Doctors may give opioids to help manage the pain caused by the deep cracks, and antibiotics may be given to prevent infections once the hard scales peel [1][3].
Health practitioners may frequently apply eye lubricants to protect the eyes, and about seven children with harlequin ichthyosis are born in the United States yearly [1][3]. The tight skin on the chest and abdomen can restrict breathing in newborns with HI, and the constricted and swollen mouth can make sucking and swallowing difficult [1][3].
Ultimately, the journey for families facing HI is a difficult one, but with advances in medical care and a multidisciplinary approach, the outlook for these infants is improving.
- The supportive and multidisciplinary management of Harlequin ichthyosis (HI) involves skin care, such as frequent application of moisturizing creams and retinoid treatments.
- Pediatricians, dermatologists, and other health professionals work together to provide comprehensive care for infants with HI, focusing on skin care, infection prevention, joint mobility, and growth support.
- Genetic testing is crucial for diagnosing HI, which is an inherited autosomal recessive disorder that affects approximately 1 in 500,000 newborns.
- A multidisciplinary approach can help parents of children with HI find support and learn more about the condition, and genetic screening and counseling can determine if a couple carries the mutation that causes HI.
- CBD, a plant-derived compound, is not typically considered as a treatment option for HI, but it has been studied for its potential benefits in skin care and addressing chronic diseases and mental health issues unrelated to HI.
- Health-and-wellness practices, such as proper skin care, mental health support, and physical therapy, are essential for managing the challenges associated with HI and improving the quality of life for affected infants.
