Harlequin itchyosis
Very rare genetical disorder characterized by excessive thickening of stratum corneum of epidermis. It will prevent heat loss from the body. So the baby is very sensitive to even slight fluctuations in temperature. The respiration is also restricted by the skin. Typically, the baby dies in 2-3 days. Thanks for sharing this case - Sachin chate. This is what I know about it. Please tell me what you know about this...
I would do anything to prevent the child from suffering.
These babies have a 50% chance of surviving the neonatal period but afterwards have a normal life expectancy (Orpha.net). The incidence is 1:3.000.000 births (Salehin et al. J Res Med Sci. 2013 Nov; 18(11): 1004–1005) and since the mutation is autosomal recessive, there is a higher incidence among consanguineous parents. The diagnosis could be done antenatal. As there is a lot of interest in the last 48hrs on this subject (this is the 3rd post): what would you do if you were expecting a child with this disease?
It’s a rare genetic condition that affects the skin. It is caused by a mutation on chromosome two where a lipid transporter gene is affected.The skin grows at a rapid rate and therefore has to be removed (scrubbed off) often. Unfortunately this is quite a painful process as the skin is also quite sensitive. It is recommended that patients use copious amounts of cream to compensate for the natural moisture that was lost or absent in the first place. Antibiotics are sometimes used when the skin cracks to avoid or treat infection.
Yes it can. Ultrasounds can pick up deformities (journal of medical ultrasound, Volume 21, Issue 4 Pages 173-232 (December 2013) ) However, making a good ultrasound is an art and even very trained professionals can miss subtitle defects.
This thickness of the skin occurs because the skin grows at a much faster pace than usual. It is very painful, but with correct treatment, a child can live more than just the few days after birth. To live as normal a life as possible, they need to scrub their skin on a daily basis and then put a very dense layer of moisturizing cream. The scrubbing is always very painful, but it’s necessary. I know that as an older child, it seems to become better because the skin stretches out, but this will feel bad whilst growing since the skin is so thick. There was a documentary about children with this disease, if someone is interested I can add a link.
Here’s a YouTube link to an excellent documentary about this condition https://youtu.be/Yu3I6mg8wyY
