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

• OOCH (Osteoporosis-Oculocutaneous Hypopigmentation)
• OOCH Syndrome
• Osteoporosis and Oculocutaneous Hypopigmentation Syndrome

What is Osteoporosis Oculocutaneous Hypopigmentation Syndrome? (Definition/Background Information)

• Osteoporosis Oculocutaneous Hypopigmentation Syndrome (OOCH Syndrome) is a highly uncommon genetic disorder affecting newborn children that is characterized by generalized osteoporosis (involving the bones) and hypopigmentation of the skin and eyes. OOCH Syndrome can cause vision impairment and easy fractures
• The syndrome may be managed through medications and lifestyle modifications for osteoporosis, adequate sun protection for skin and eyes, and the use of vision aids, as needed. The prognosis of Osteoporosis Oculocutaneous Hypopigmentation Syndrome depends upon its severity, which may vary from one individual to another

Who gets Osteoporosis Oculocutaneous Hypopigmentation Syndrome? (Age and Sex Distribution)

• Osteoporosis Oculocutaneous Hypopigmentation Syndrome is an extremely rare congenital disorder with much fewer than 10 cases being reported in the medical literature
• The presentation of symptoms may occur at birth
• Both males and females may be affected
• Individuals of all racial and ethnic groups may be affected

What are the Risk Factors for Osteoporosis Oculocutaneous Hypopigmentation Syndrome? (Predisposing Factors)

• Currently, no risk factors have been clearly identified for Osteoporosis Oculocutaneous Hypopigmentation (OOCH) Syndrome
• A positive family history may be an important risk factor, since OOCH Syndrome can be inherited

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 Osteoporosis Oculocutaneous Hypopigmentation Syndrome? (Etiology)

• The exact cause of development of Osteoporosis Oculocutaneous Hypopigmentation Syndrome is unknown
• It is reportedly a genetic disorder transmitted in an autosomal recessive manner

Autosomal recessive: Autosomal recessive conditions are traits or disorders that occur when two copies of an abnormal gene have been inherited on a non-sex chromosome. If both parents have an autosomal recessive condition, there is a 100% likelihood of passing on the mutated genes to their children. If, however, only one mutant copy of the gene is inherited, the individual will be a carrier of the condition, but will not be present with any symptoms. Children born to two carriers, have a 25% chance of being homozygous dominant (unaffected), a 50% chance of being heterozygous (carrier), and a 25% chance of being homozygous recessive (affected).

What are the Signs and Symptoms of Osteoporosis Oculocutaneous Hypopigmentation Syndrome?

The signs and symptoms of Osteoporosis Oculocutaneous Hypopigmentation Syndrome may include:

• Generalized osteoporosis that results in bone thinning and bone weakening
• Pale white, yellow, or lighter than normal colored skin
• Skin patches (albinism)
• Ocular albinism resulting in visual impairment
• Shortsightedness (myopia)
• Sensitivity of eyes to light
• Nystagmus - irregular and continuous eye movement 
• Retinal abnormalities

How is Osteoporosis Oculocutaneous Hypopigmentation Syndrome Diagnosed?

Osteoporosis Oculocutaneous Hypopigmentation Syndrome is diagnosed on the basis of the following information:

• A thorough physical examination and assessment of symptoms
• A visual assessment of pigmentation in hair, skin, and eyes of the affected individual
• An evaluation of family medical history
• Dermoscopy: Dermoscopy 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
• Examination of the eyes for structural abnormalities
• Vision exam
• Visual-evoked potential (VEP) testing in children with visual problems
• Bone densitometry
• Ultrasound scan studies to determine bone density by imaging bones
• X-ray studies of the affected region

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 Osteoporosis Oculocutaneous Hypopigmentation Syndrome?

The complications of Osteoporosis Oculocutaneous Hypopigmentation Syndrome may include:

• Spinal cord abnormalities that may include kyphosis and platyspondyly
• Increased risk for bone fracture due to low density of the bones
• Vision loss
• Emotional stress due to cosmetic concerns

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

How is Osteoporosis Oculocutaneous Hypopigmentation Syndrome Treated?

There is no cure for Osteoporosis Oculocutaneous Hypopigmentation Syndrome since it is a genetic condition. The treatment is usually given to manage the signs and symptoms and any complication that develops. The treatment measures may include:

• Treatment of osteoporosis through medication and lifestyle changes that include:
  • Anabolic and antiresorptive drugs
  • Increased vitamin D and calcium in diets
  • Avoiding activities that make one prone to easy fractures
• For skin protection: Use of sunscreens with a high SPF (sun protection factor) 
• For eye abnormalities:

• Visual aids to help low or poor vision
• Tinted glasses to reduce light-sensitivity
• Use of UV-protected sunglasses
• Use of wide-brimmed hats for sunny days

A surgical correction of eye defects, such as nystagmus, may be undertaken following evaluation by the healthcare provider.

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

How can Osteoporosis Oculocutaneous Hypopigmentation Syndrome be Prevented?

Currently, Osteoporosis Oculocutaneous Hypopigmentation Syndrome may not be preventable since many of these genetic disorders are diagnosed at or following the birth of the child.

• 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 Osteoporosis Oculocutaneous Hypopigmentation Syndrome? (Outcomes/Resolutions)

• The prognosis of Osteoporosis Oculocutaneous Hypopigmentation 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 Osteoporosis Oculocutaneous Hypopigmentation Syndrome:

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

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