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

• Albinism and Deafness of Tietz
• Hypopigmentation/Deafness of Tietz
• Tietz Albinism-Deafness Syndrome (TADS)

What is Tietz Syndrome? (Definition/Background Information)

• Tietz Syndrome is a rare congenital disorder that is marked by skin hypopigmentation, light-colored hair, and severe hearing impairment. It is also known as Tietz Albinism-Deafness Syndrome (TADS). This genetic disorder is inherited in an autosomal dominant manner
• Tietz Syndrome is an incurable condition; it is treated symptomatically, such as by using sunscreen cream for skin protection and cochlear implants for deafness, as necessary. The overall prognosis depends on the severity of the disorder, but is generally good with adequate management

Who gets Tietz Syndrome? (Age and Sex Distribution)

• Tietz Syndrome is an uncommon genetic disorder; the presentation of symptoms may be manifested 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 Tietz Syndrome? (Predisposing Factors)

• A positive family history may be an important risk factor, since Tietz Syndrome can be inherited
• Currently, no other specific predisposing factors have been identified for the disorder

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 Tietz Syndrome? (Etiology)

• Tietz Syndrome is known to be caused by mutation(s) in the microphthalmia-associated transcription factor (MITF) gene
• The MITF gene has a role to play in the development of melanocytes (melanin-producing cells), and is located on chromosome 3p13
• The disorder follows an autosomal dominant mode of transmission

Autosomal dominant pattern of inheritance: 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 Tietz Syndrome?

The signs and symptoms of Tietz Syndrome may be mild or severe and vary from one individual to another. It may include:

• Fair or pale (hypopigmented) skin; the skin may present generalized hypopigmentation, and some individuals may be very white-skinned
• Light-colored hair, which may darken with age to yellow or red in color
• White eyebrows and eyelashes; eyebrows may be thin to almost invisible
• Blue-colored iris (blue eyes); typically, no other ocular abnormalities are seen
• Sensorineural hearing impairment involving both the ears, which is usually severe and noted from birth
• As the child ages, some pigmentation is seen

How is Tietz Syndrome Diagnosed?

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

• Complete physical examination and thorough medical history evaluation
• Assessment of the presenting signs and symptoms
• Hearing assessment through various tests including:
  • Otoscopy: Examination using an instrument that allows the physician to look in the ear canal to visualize the tympanic membrane
  • Weber test: A test in which a vibrating tuning fork is placed on the midline of the head
  • Rinne test: A test in which a vibrating tuning fork is held next to the ear and then in front of the ear, until the individual no longer hears the sound
  • Audiometric test: Hearing tests that involve listening to different tones
  • Tympanometry: A test that puts air pressure in the ear canal in order to move the eardrum, and then measures the eardrum mobility (movement)
• 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
• 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
• Molecular genetic testing to determine the causative gene

Since Tietz Syndrome closely resembles another genetic disorder, called Waardenburg syndrome type 2A, it is important to exclude the same through a differential 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 Tietz Syndrome?

The complications of Tietz Syndrome may include:

• Emotional stress due to cosmetic concerns
• Hearing loss, which is usually total
• Decreased quality of life
• Complications may occur with or without treatment, and in some cases, due to treatment also

How is Tietz Syndrome Treated?

There is no cure for Tietz Syndrome since it is a genetic condition. The treatment is usually given to manage the signs and symptoms and any complications that develop.

• Albinism treatment may involve the use of sunscreens with a high SPF (sun protection factor)
• The use of hearing aids and other assistive devices for hearing
• Use of sign language for individuals with severe hearing loss
• Cochlear implantation, if required

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

How can Tietz Syndrome be Prevented?

Currently, Tietz 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 Tietz Syndrome? (Outcomes/Resolutions)

The prognosis of Tietz Syndrome is dependent upon the severity of the signs and symptoms and associated complications.

• In many individuals, it is reported that hearing loss is severe since the inner ear is affected. Children may need the use of hearing assistive devices or a cochlear implantation
• Other presentations, such as skin hypopigmentation, or blue eye color that does not affect vision, is not known to severely affect the quality of one’s life

Additional and Relevant Useful Information for Tietz Syndrome:

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

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