Ichthyosis sebacea cornea is a rare genetic disorder characterized by a combination of three distinct features: ichthyosis, sebaceous gland hyperplasia, and corneal opacity. This condition primarily affects the skin, sebaceous glands, and eyes.
The term "ichthyosis" refers to a group of skin disorders characterized by dry, scaly, and thickened skin. In ichthyosis sebacea cornea, the skin presents with fish-like scales that can be either white or yellowish in color. The severity of the scaling may vary, ranging from mild to severe, and it typically affects the entire body.
Sebaceous gland hyperplasia, on the other hand, refers to the excessive growth and development of the sebaceous glands. These glands are responsible for producing the oily substance called sebum, which moisturizes and protects the skin. In this condition, the sebaceous glands become enlarged and may lead to yellowish nodules or papules on the face, scalp, and other areas.
Corneal opacity is the final component of this condition, affecting the eyes. It is characterized by the presence of a cloudy or opaque layer on the cornea, which is the transparent front part of the eye. This can cause visual impairment or, in severe cases, lead to blindness.
Ichthyosis sebacea cornea is typically present at birth or develops shortly after. It is caused by mutations in specific genes inherited in an autosomal recessive manner. The specific genes implicated in this condition are not well understood.
Treatment for ichthyosis sebacea cornea is focused on managing the symptoms and may involve the application of emollients and moisturizers to alleviate skin dryness, as well as the use of eye drops or surgery
