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

• Geroderma Osteodysplasticum
• Gerodermia Osteodysplastica
• Walt Disney Dwarfism

What is Geroderma Osteodysplastica? (Definition/Background Information)

• Geroderma Osteodysplastica (GO) is an uncommon genetic disorder that involves the skin and skeletal structures. It is characterised by patches of loose hanging skin, facial deformity with wrinkled skin presenting an aged appearance, and loose joints
• Management of Geroderma Osteodysplastica involves surgical correction of bony defects and physical/occupational therapy, along-with brining about certain lifestyle changes. The prognosis depends on its severity, and can vary widely from one individual to another

Who gets Geroderma Osteodysplastica? (Age and Sex Distribution)

• Geroderma Osteodysplastica is a 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 Geroderma Osteodysplastica? (Predisposing Factors)

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

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 Geroderma Osteodysplastica? (Etiology)

• Geroderma Osteodysplastica is caused by genetic abnormalities which are passed down (through families) in an autosomal recessive manner
• It is caused by mutations involving the GORAB gene leading to the development of associated signs and symptoms

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 Geroderma Osteodysplastica?

The signs and symptoms associated with Geroderma Osteodysplastica may vary widely from one individual to another (even in members of the same family) and may include:

• Presence of skin patches that are loose (cutis laxa) or stretchy on any region of the body
• Wrinkled skin
• Redundant and thin skin
• Facial abnormalities that include:
  • Deeply set eye
  • Small-sized head
  • Malar flattening
  • Microcornea
  • Large ears
• Skeletal abnormalities that include:
  • Clenched hand
  • Hyperextensibility or hyperflexibility of the joints
  • Bowing of the shinbones and thighbones
  • Increased susceptibility to fractures
  • Spinal cord abnormalities
  • Protrusion of breastbone (pectus carinatum)
  • Muscular hypotonia
  • Underdeveloped jaw bones
• Swollen and bleeding gums
• Tooth loss
• Vision abnormalities
• Hernia
• Mild intellectual disability

How is Geroderma Osteodysplastica Diagnosed?

Geroderma Osteodysplastica is diagnosed on the basis of the following information:

• A complete evaluation of family medical history along with a thorough examination of the skin, bones, and teeth
• Blood tests to measure vitamin D and calcium levels
• 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
• Bone densitometry
• Imaging studies of the affected regions that may involve X-rays, ultrasound scans, and CT/MRI studies
• Molecular genetic testing to identify the gene involved
• Skin biopsy: A skin tissue biopsy is performed and sent to a laboratory for a pathological examination. The pathologist examines the biopsy under a microscope. After putting together clinical findings, special studies on tissues (if needed) and with microscope findings, the pathologist arrives at a definitive diagnosis

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 Geroderma Osteodysplastica?

The complications of Geroderma Osteodysplastica may include:

• Prematurely aged appearance
• Periodontitis
• Severe skeletal abnormalities that include
  • Osteoporosis
  • Osteopenia
  • Recurrent fractures
  • Vertebral compression fractures
  • Hip dislocation
  • Scoliosis
• Severe short stature
• Delayed speech and language development
• Intellectual deficit
• Severely decreased quality of life

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

How is Geroderma Osteodysplastica Treated?

There is no cure for Geroderma Osteodysplastica 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:

• Lifestyle modifications
• Medications
• Surgical correction of defects
• Physical and occupational therapy
• Assistive devices

How can Geroderma Osteodysplastica be Prevented?

Currently, Geroderma Osteodysplastica 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 counselling 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

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

What is the Prognosis of Geroderma Osteodysplastica? (Outcomes/Resolutions)

• The prognosis of Geroderma Osteodysplastica 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 Geroderma Osteodysplastica:

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

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