Although this disease has a pretty name, it is a very serious condition that exclusively affects babies and young children. It is characterized by damage to the entire skin, which peels and cracks.
What is Baby Harlequin Disease?
Also called “congenital ichthyosis harlequin fetus type“, Harlequin Baby Disease is a rare and orphan genetic disease that exclusively affects babies and young children in the very first years of their life. It is the most severe form ichthyosis. “It designates a keratinization disorder that is, an abnormality in the formation of the stratum corneum, the outermost part of the epidermis“explains Dr. Viraben, dermatologist . Skin is thick, tough, scaly and cracking by forming diamonds, reminiscent of the Harlequin costume, hence its name. The term “ichthyosis“comes from elsewhere from the Greek”ichthyusmeaning “fish scale”. It affects less than 1 in 1,000,000 births.
What are the symptoms of baby harlequin disease?
The disease is manifested by the following signs:
- There skin is very dry and scaly
- “Love is painful because during movement the skin cracks, which creates a wound“, says Dr. Viraben.
- It desquamates on a large surface, even on the whole body.
- The skin is very thick, hard, marked with a diamond-shaped crack
- The skin is red and inflamed
- A strong pain
- Almost total absence of hair follicles
- Limb stiffness, especially in the joints where hard skin accumulates
- Eye damage
- Inability to close the mouth, due to the rigidity of the labial mucous membranes
What is the cause of baby harlequin disease?
It’s a disease genetic. It is due to a ABCA 12 gene abnormality and is transmitted autosomally recessively. She is therefore transmitted by both father and mother. If only one of the two parents transmits the allele, the child will not develop the disease. The disease is caused by too rapid renewal of keratinocyte cells, constituting the superficial layer of the skin.
“The risk of mortality shortly after birth is significant, close to 50%”
What is the life expectancy of a Harlequin baby?
“The risk of mortality shortly after birth is significant, close to 50%“, laments our expert. This because of the feeding difficulties, opportunistic infections and respiratory problems. But the children who survive will then have a normal life expectancy. However, this disease can lead to ocular complications, a delay in psychomotor development and promote the occurrence of serious skin diseases.
Is there a treatment for this disease?
“Care must be early and combining respiratory assistance and the use of general retinoids (comparable to those given in severe acne)explains the dermatologist. This makes it possible to pass the course of infancy, fatal in 50% of cases. The risk then is infections. It would seem that over time the keratinization anomalies are repaired“, explains Dr. Viraben.
Thanks to Dr. Roland Viraben, dermatologist and member of the National Syndicate of Dermatologists-Venerologists (SNDV).