What are the other Names for this Condition? (Also known as/Synonyms)

• CDO Syndrome
• Corneal Dystrophy, Epithelial, with Skin and Skeletal Changes
• Stern Lubinsky Durrie Syndrome

What is Corneodermatoosseous Syndrome? (Definition/Background Information)

• Corneodermatoosseous (CDO) Syndrome is a highly uncommon disorder involving the eye, skin, and bones. It is an inherited (genetic) disorder that is characterized by corneal dystrophy, thickening of skin on the palms and soles, and dental abnormalities
• A treatment of the disorder involves managing the signs and symptoms, as there is no cure for Corneodermatoosseous Syndrome. The prognosis of the condition may vary from one individual to another depending on its severity, but the condition is non-life-threatening

Who gets Corneodermatoosseous Syndrome? (Age and Sex Distribution)

• Corneodermatoosseous Syndrome is an extremely rare congenital disorder. The presentation of symptoms may occur at birth
• Both males and females may be affected
• Worldwide, individuals of all racial and ethnic groups may be affected

What are the Risk Factors for Corneodermatoosseous Syndrome? (Predisposing Factors)

• A positive family history may be an important risk factor, since Corneodermatoosseous Syndrome can be inherited
• Currently, no other risk factors have been clearly identified for this syndrome

It is important to note that having a risk factor does not mean that one will get the condition. A risk factor increases one’s chances of getting a condition compared to an individual without the risk factors. Some risk factors are more important than others.

Also, not having a risk factor does not mean that an individual will not get the condition. It is always important to discuss the effect of risk factors with your healthcare provider.

What are the Causes of Corneodermatoosseous Syndrome? (Etiology)

• The exact cause of development of Corneodermatoosseous Syndrome is presently unknown
• It is a genetic disorder that is inherited in an autosomal dominant manner 

Autosomal dominant: Autosomal dominant conditions are traits or disorders that are present when only one copy of the mutation is inherited on a non-sex chromosome. In these types of conditions, the individual has one normal copy and one mutant copy of the gene. The abnormal gene dominates, masking the effects of the correctly function gene. If an individual has an autosomal dominant condition, the chance of passing the abnormal gene on to their offspring is 50%. Children, who do not inherit the abnormal gene, will not develop the condition, or pass it on to their offspring.

What are the Signs and Symptoms of Corneodermatoosseous Syndrome?

The signs and symptoms of Corneodermatoosseous Syndrome may vary from one individual to another. It may include:

• Eye abnormalities such as:
  • Increased light sensitivity
  • Increased tearing from the eyes
  • Burning sensation
  • Corneal dystrophy
  • Poor daytime and nighttime vision
• Skin abnormalities that include:
  • Presence of red skin
  • Thickened skin on the palms and soles (palmoplantar hyperkeratosis)
  • Nail abnormalities including detachment of nail from the nail bed and loss of nail
• Dental abnormalities that include:
  • Abnormalities involving the dental enamel
  • Swollen gums
  • Tooth cavities
• Short palm and fingers
• Hearing impairment

How is Corneodermatoosseous Syndrome Diagnosed?

Corneodermatoosseous Syndrome is diagnosed on the basis of the following information:

• Complete physical examination and thorough family and medical history evaluation
• Assessment of signs and symptoms
• Oral and dental examination
• Fundoscopic (ophthalmoscopic) examination by an eye specialist, who examines the back part of the eye (or the fundus)
• Visual acuity test using a special and standardized test chart (Snellen chart)
• Slit-lamp examination of the eye, which can help in diagnosing the condition
• Gonioscopy, a painless eye exam using special devices
• Visual evoked potential (VEP) test
• Dermoscopy: It is a diagnostic tool where a dermatologist examines the skin using a special magnified lens
• Wood’s lamp examination: In this procedure, the healthcare provider examines the skin using ultraviolet light. It is performed to examine the change in skin pigmentation
• Imaging studies of the affected regions
• Biopsy studies, if necessary

Many clinical conditions may have similar signs and symptoms. Your healthcare provider may perform additional tests to rule out other clinical conditions to arrive at a definitive diagnosis.

What are the possible Complications of Corneodermatoosseous Syndrome?

The complications of Corneodermatoosseous Syndrome may include:

• Severe short stature
• Premature birth
• Loss of hearing
• Loss of vision
• Decreased quality of life

Complications may occur with or without treatment, and in some cases, due to treatment also.

How is Corneodermatoosseous Syndrome Treated?

There is no cure for Corneodermatoosseous Syndrome since it is a genetic condition. The treatment is usually given to manage the signs and symptoms and any complications that develops. This may include:

• Medical therapy using combination drugs (prescription medications)
• Use of topical applications and antiseptic eye drops
• Corneal transplant may be necessary if there is corneal perforation
• Use of hearing aids and other assistive devices for hearing
• Cochlear implantation, if needed
• Surgical procedures to remove severely affected nails

Regular medical screening at periodic intervals with tests and physical examinations are recommended.

How can Corneodermatoosseous Syndrome be Prevented?

Currently, Corneodermatoosseous Syndrome may not be preventable since it is a genetic disorder.

• Genetic testing of the expecting parents (and related family members) and prenatal diagnosis (molecular testing of the fetus during pregnancy) may help in understanding the risks better during pregnancy
• If there is a family history of the condition, then genetic counseling will help assess risks, before planning for a child
• Active research is currently being performed to explore the possibilities for treatment and prevention of inherited and acquired genetic disorders

What is the Prognosis of Corneodermatoosseous Syndrome? (Outcomes/Resolutions)

• The prognosis of Corneodermatoosseous Syndrome is dependent upon the severity of the signs and symptoms and associated complications, if any
• Individuals with mild conditions have better prognosis than those with severe symptoms and complications. Typically, the prognosis may be assessed on a case-by-case basis

Additional and Relevant Useful Information for Corneodermatoosseous Syndrome:

The following DoveMed website link is a useful resource for additional information:

https://www.dovemed.com/healthy-living/skin-disorders/