Keratosis palmoplantaris with corneal dystrophy

Keratosis Palmoplantaris with Corneal Dystrophy is a rare genetic disorder characterized by the development of keratosis on the palms of the hands and soles of the feet, coupled with corneal dystrophy, which affects the cornea of the eyes. This condition is part of a group of diseases known as palmoplantar keratodermas (PPK), which are heterogeneous disorders affecting the skin on the palms and soles. The addition of corneal dystrophy distinguishes this specific subtype, making it a unique clinical entity.

Symptoms and Signs

The primary feature of Keratosis Palmoplantaris with Corneal Dystrophy is the appearance of thickened, rough skin on the palms and soles, which can lead to discomfort and difficulty in handling objects or walking. The skin changes typically begin in early childhood and may progress or stabilize over time. The corneal dystrophy associated with this condition leads to the development of opacities in the cornea, which can impair vision. Symptoms related to corneal dystrophy may include blurred vision, sensitivity to light (photophobia), and in severe cases, loss of vision.

Causes

Keratosis Palmoplantaris with Corneal Dystrophy is a genetic disorder. It is inherited in an Autosomal dominant manner, meaning that only one copy of the affected gene from either parent is sufficient to cause the disorder. The specific genes involved in this condition have not been fully identified, making the molecular basis complex and not completely understood.

Diagnosis

Diagnosis of Keratosis Palmoplantaris with Corneal Dystrophy is primarily based on the clinical presentation and family history. Dermatological examination and ophthalmological examination are crucial for identifying the characteristic skin and eye findings. Genetic testing may be helpful in confirming the diagnosis, although the absence of identified causative genes can make this challenging.

Treatment

There is no cure for Keratosis Palmoplantaris with Corneal Dystrophy, and treatment is focused on managing symptoms and preventing complications. For skin symptoms, moisturizers and keratolytic agents (which help to remove dead skin cells) may be used to reduce skin thickness and improve comfort. For corneal dystrophy, treatment options may include eyeglasses or contact lenses to correct vision problems, and in severe cases, corneal transplantation may be considered.

Prognosis

The prognosis for individuals with Keratosis Palmoplantaris with Corneal Dystrophy varies. While the skin symptoms can often be managed with treatment, the vision impairment caused by corneal dystrophy can significantly affect quality of life. Early and consistent treatment can help to manage symptoms and improve outcomes.

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