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

• CSHS (Cutaneous-Skeletal Hypophosphatemia Syndrome)

What is Cutaneous-Skeletal Hypophosphatemia Syndrome? (Definition/Background Information)

• Cutaneous-Skeletal Hypophosphatemia Syndrome (CSHS) is a rare condition that primarily affects the bones and skin
• People with this condition have skeletal dysplasia and a variety of skin abnormalities such as epidermal nevi (an overgrowth of the top layer of skin) and moles
• Other common features include hypophosphatemia which can be associated with bone pain, limb length discrepancies, bone deformities, and impaired mobility
• CSHS occurs sporadically in people with no family history of the condition. It is caused by somatic mutations in the RAS genes
• Medications, such as calcitrol and phosphate supplementation, are typically prescribed to treat the signs and symptoms of the condition. However, more directed therapies are in development

(Source: Cutaneous-Skeletal Hypophosphatemia Syndrome; Genetic and Rare Disease Information Center (GARD) of National Center for Advancing Translational Science (NCATS), USA.)

Who gets Cutaneous-Skeletal Hypophosphatemia Syndrome? (Age and Sex Distribution)

• Cutaneous-Skeletal Hypophosphatemia Syndrome is a rare disorder. The presentation of symptoms may occur in childhood or later
• Both males and females may be affected
• Worldwide, individuals of all racial and ethnic groups may be affected

What are the Risk Factors of Cutaneous-Skeletal Hypophosphatemia Syndrome? (Predisposing Factors)

• Currently, no risk factors have been clearly identified for Cutaneous-Skeletal Hypophosphatemia 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 Cutaneous-Skeletal Hypophosphatemia Syndrome? (Etiology)

• Cutaneous-Skeletal Hypophosphatemia Syndrome occurs sporadically in people with no family history of the condition
• It is caused by somatic mutations in the RAS genes

(Source: Cutaneous-Skeletal Hypophosphatemia Syndrome; Genetic and Rare Disease Information Center (GARD) of National Center for Advancing Translational Science (NCATS), USA.)

What are the Signs and Symptoms of Cutaneous-Skeletal Hypophosphatemia Syndrome?

The signs and symptoms of Cutaneous-Skeletal Hypophosphatemia Syndrome may include:

• Epidermal nevi (an overgrowth of the top layer of skin) 
• Moles 
• Bone pain
• Limb length discrepancies
• Bone deformities
• Impaired mobility

How is Cutaneous-Skeletal Hypophosphatemia Syndrome Diagnosed?

Cutaneous-Skeletal Hypophosphatemia Syndrome is diagnosed on the basis of the following information:

• Complete physical examination
• Thorough medical history evaluation
• Assessment of signs and symptoms
• Laboratory tests
• Imaging studies
• Biopsy studies, if necessary
• Molecular genetic testing to ascertain RAS gene mutations

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 Cutaneous-Skeletal Hypophosphatemia Syndrome?

The complications of Cutaneous-Skeletal Hypophosphatemia Syndrome may include:

• Fractures
• Scoliosis
• Severe back pain
• Crowding of organs in the chest cavity, causing heart and lung malfunction
• Limited mobility 
• Reduced quality of life

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

How is Cutaneous-Skeletal Hypophosphatemia Syndrome Treated?

The treatment for Cutaneous-Skeletal Hypophosphatemia Syndrome is usually given to manage the signs and symptoms and any complication that develops. The treatment may include the administration of the following medication:

• Calcitrol (vitamin D supplement)
• Phosphate supplementation 

How can Cutaneous-Skeletal Hypophosphatemia Syndrome be Prevented?

• Cutaneous-Skeletal Hypophosphatemia Syndrome may not be preventable, since it is a genetic disorder
• Active research is currently being performed to explore the possibilities for treatment and prevention of genetic disorders such as Cutaneous-Skeletal Hypophosphatemia Syndrome
• Regular medical screening at periodic intervals with tests and physical examinations are recommended

What is the Prognosis of Cutaneous-Skeletal Hypophosphatemia Syndrome? (Outcomes/Resolutions)

• The prognosis of Cutaneous-Skeletal Hypophosphatemia 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 Cutaneous-Skeletal Hypophosphatemia Syndrome:

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

http://www.dovemed.com/diseases-conditions/rare-disorders/