Understanding Corneal Intraepithelial Dyskeratosis-Palmoplantar Hyperkeratosis-Laryngeal Dyskeratosis Syndrome

Expert Reviewed By: ⁠Dr. Brandon Colby MD

Corneal intraepithelial dyskeratosis-palmoplantar hyperkeratosis-laryngeal dyskeratosis syndrome (CID-PH-LD) is a rare genetic disorder that affects the skin, eyes, and larynx. The condition is characterized by thickening of the skin on the palms and soles (palmoplantar hyperkeratosis), abnormal growth of cells on the surface of the cornea (corneal intraepithelial dyskeratosis), and changes in the larynx that can lead to hoarseness and difficulty breathing (laryngeal dyskeratosis). This article aims to provide a comprehensive understanding of CID-PH-LD, its diagnosis, and the role of genetic testing in managing the condition.

Diagnosing Corneal Intraepithelial Dyskeratosis-Palmoplantar Hyperkeratosis-Laryngeal Dyskeratosis Syndrome

Diagnosing CID-PH-LD can be challenging due to the rarity of the condition and the overlapping symptoms with other skin disorders. A thorough medical history, physical examination, and a series of tests are necessary to confirm the diagnosis. These may include:

• Eye examination: A detailed eye examination can help identify corneal intraepithelial dyskeratosis, which is a key feature of CID-PH-LD.
• Skin biopsy: A small sample of skin from the affected areas (palms, soles, or larynx) may be taken for examination under a microscope. This can help identify the characteristic changes in the skin associated with CID-PH-LD.
• Laryngoscopy: A laryngoscopy is a procedure that allows a doctor to examine the larynx using a thin, flexible tube with a light and camera at the end. This can help detect any abnormalities in the larynx, such as those seen in laryngeal dyskeratosis.

The Role of Genetic Testing in CID-PH-LD

Genetic testing plays a crucial role in the diagnosis and management of CID-PH-LD. The condition is caused by mutations in the gene called RHBDF2, which is responsible for encoding a protein involved in the regulation of cell growth and differentiation. Identifying these mutations can confirm the diagnosis and provide valuable information for treatment and management.

Confirming the Diagnosis

Genetic testing can help confirm the diagnosis of CID-PH-LD by identifying mutations in the RHBDF2 gene. This is particularly important in cases where the clinical features are not definitive or when other skin disorders are suspected. A blood sample is usually taken for genetic testing, and the results can help guide further evaluation and treatment.

Carrier Testing and Prenatal Diagnosis

CID-PH-LD is inherited in an autosomal dominant manner, which means that an affected individual has a 50% chance of passing the condition on to each of their children. Carrier testing can be performed on individuals with a family history of CID-PH-LD to determine if they carry the RHBDF2 mutation. This information can be helpful in family planning and prenatal diagnosis.

Prenatal diagnosis can be performed through chorionic villus sampling (CVS) or amniocentesis, which involve obtaining a sample of placental tissue or amniotic fluid, respectively, for genetic testing. This can help determine if the fetus has inherited the RHBDF2 mutation and is at risk for developing CID-PH-LD.

Guiding Treatment and Management

Genetic testing can also provide valuable information for the treatment and management of CID-PH-LD. Identifying the specific RHBDF2 mutation can help guide treatment decisions, such as the use of medications to reduce inflammation or procedures to improve vision or breathing. Furthermore, understanding the genetic basis of CID-PH-LD can help researchers develop targeted therapies that address the underlying cause of the condition.

Conclusion

Corneal intraepithelial dyskeratosis-palmoplantar hyperkeratosis-laryngeal dyskeratosis syndrome is a rare genetic disorder that affects multiple systems in the body. Accurate diagnosis is crucial for appropriate treatment and management, and genetic testing plays a key role in this process. By identifying the RHBDF2 mutations responsible for CID-PH-LD, healthcare providers can confirm the diagnosis, guide treatment decisions, and provide valuable information for family planning and prenatal diagnosis.

About The Expert Reviewer

Dr. Brandon Colby MD is a US physician specializing in the personalized prevention of disease through the use of genomic technologies. He’s an expert in genetic testing, genetic analysis, and precision medicine. Dr. Colby is also the Founder of  and the author of ⁠⁠Outsmart Your Genes.

Dr. Colby holds an MD from the Mount Sinai School of Medicine, an MBA from Stanford University’s Graduate School of Business, and a degree in Genetics with Honors from the University of Michigan. He is an Affiliate Specialist of the American College of Medical Genetics and Genomics (⁠⁠ACMG), an Associate of the American College of Preventive Medicine (⁠⁠ACPM), and a member of the National Society of Genetic Counselors (⁠NSGC)