Summary about Disease
Kritz-Buckler disease, also known as hereditary benign intraepithelial dyskeratosis (HBID), is a rare genetic disorder primarily affecting the eyes and mucous membranes of the mouth. It is characterized by the development of foamy plaques on the conjunctiva of the eyes and the oral mucosa. The disease is generally benign, meaning it's not life-threatening, but the ocular manifestations can cause discomfort and vision problems.
Symptoms
Eyes:
Foamy or gelatinous plaques on the conjunctiva (white part of the eye)
Redness
Itching
Burning
Tearing
Photophobia (sensitivity to light)
Blurred vision
Rarely, corneal involvement leading to more significant vision impairment
Mouth:
Thick, white or grayish-white plaques on the oral mucosa (lining of the mouth), particularly the tongue and buccal mucosa (inner cheek)
Lesions are usually asymptomatic, meaning they don't cause pain or discomfort
Causes
Kritz-Buckler disease is caused by a genetic mutation in the DSG1 gene. This gene provides instructions for making a protein called desmoglein 1, which is important for cell adhesion in the skin and mucous membranes. The mutation is inherited in an autosomal dominant pattern, meaning only one copy of the mutated gene is needed for a person to be affected. Therefore, if one parent has the disease, there is a 50% chance their child will inherit it.
Medicine Used
There is no specific cure for Kritz-Buckler disease, and treatment focuses on managing the symptoms.
Eyes:
Artificial tears to lubricate the eyes and relieve dryness.
Topical corticosteroids to reduce inflammation.
Surgical removal of the plaques may be considered in severe cases that impair vision or cause significant discomfort.
Mouth:
Treatment for oral lesions is usually not necessary, as they are typically asymptomatic. In rare cases, if the lesions are bothersome, topical steroids may be used.
Is Communicable
No, Kritz-Buckler disease is not communicable. It is a genetic disorder and cannot be spread from person to person.
Precautions
Since Kritz-Buckler disease is a genetic disorder, there are no specific precautions to prevent its occurrence. However, genetic counseling may be helpful for families with a history of the disease who are planning to have children. Protective eyewear (sunglasses) may reduce ocular irritation in bright light.
How long does an outbreak last?
Kritz-Buckler disease is not characterized by outbreaks in the typical sense of infectious diseases. The plaques on the eyes and mouth are usually chronic, meaning they are persistent and long-lasting. Symptoms may fluctuate in severity over time, but the underlying condition is always present.
How is it diagnosed?
Diagnosis of Kritz-Buckler disease typically involves:
Clinical examination: A thorough examination of the eyes and oral mucosa to identify the characteristic plaques.
Family history: A detailed family history to determine if there is a history of the disease in other family members.
Histopathology: A biopsy of the conjunctival or oral lesions may be performed to confirm the diagnosis. Microscopic examination will reveal the characteristic dyskeratosis (abnormal keratinization).
Genetic testing: Genetic testing for mutations in the DSG1 gene can confirm the diagnosis.
Timeline of Symptoms
The onset of symptoms can vary, but they usually appear in early childhood. The ocular findings are often the first to be noticed. The oral plaques may be present from early childhood or may develop later. The symptoms are usually persistent throughout life, with fluctuations in severity.
Important Considerations
Regular eye exams are important to monitor the condition and prevent complications such as corneal damage.
Individuals with Kritz-Buckler disease should be aware of the potential for passing the condition on to their children.
While the disease is generally benign, it can cause discomfort and impact quality of life.
Affected individuals may benefit from joining support groups or connecting with others who have the condition.