A defect caused with birth that affects the skin and results in scaly, dry skin over the body is called Harlequin Fetus or Ichthyosis. It happens due to genetic mutations and wrong combinations in an infant’s body from parents.
Difficulties in Children and Adults:
Although the disease occurs in infancy, it is necessary to prepare for growing a child with this defect. These are the problems that could occur during the time of growing up as a child:
- Thin Hair
- Unusual Facial Features
- Reduced Hearing
- Reoccurring Skin Infections
- Harlequin Fetus is an autosomal recessive disorder because it is a rare genetic condition. So the cause for this disorder to manifest in a patient is the mutation in a gene.
- It is carried through a person without the person being much affected by it.
- When both the parents are carriers of this disease, 25% chances are that their child will have the condition.
- According to NORD, this condition affects one in 500,000 people.
- It is not caused due to pregnancy no need to blame the regime a woman follows during pregnancy.
- If the prospective parents want to avoid such a situation, they can get tested or visit a genetic counselor.
- In the case of a woman going through pregnancy, the healthcare provider can guide her about prenatal tests.
- The condition is rare, but it is good to get tested before planning for a future to have a safe pregnancy.
Small-swollen hands and feet,Large plate-like patches on skin,Eyelids and lips pulled open due to tight skin, fingers and toes,Troubled breathing,Flat nose,Abnormal hearing,Frequent respiratory infections,Reduced joint mobility
Limited Mobility,Breathing problems due to tight chest skin,Eye not closing,Overheating due to scales that interfere with sweating,Hypernatremia,Lamellar ichthyosis,Erythroderma,Arthralgias,Hypothyroidism,Short stature
Alpha-Hydroxy Acids (AHA),Ceramides,Cholesterol,Lanolin,Petrolatum,AmLactin,Glycerine with lotions,Oral retinoids (acitretin and isotretinoin),Antibiotics,Emollients