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

• Cutaneous Albinism-Ermine Phenotype
• O'Doherty Syndrome
• Pigmentary Disorder with Hearing Loss

What is Ermine Phenotype? (Definition/Background Information)

• Ermine Phenotype is a highly uncommon genetic disorder involving the skin, hair, and auditory system that may be inherited in an autosomal recessive manner. It is mainly characterized by patchy skin pigmentation, white hair with random black tufts, and sensorineural hearing loss, among other symptoms. The disorder is also known as Pigmentary Disorder with Hearing Loss
• The ermine is a small predatory carnivore of the weasel family that changes its fur color from brown to pure white with black-tipped tail about 9 months after birth. And the term phenotype indicates one’s “observable characteristics” such as skin color, height, etc.
• Ermine Phenotype is managed by using sunscreens for sun protection, hearing implants and other assistive devices, including correction of eye abnormalities. The prognosis depends on its severity, which may vary from one individual to another

Who gets Ermine Phenotype? (Age and Sex Distribution)

• Ermine Phenotype is an extremely rare congenital disorder with only a handful of 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 Ermine Phenotype? (Predisposing Factors)

• A positive family history may be a risk factor, since Ermine Phenotype can be inherited
• Currently, no risk factors have been clearly identified for this condition

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 Ermine Phenotype? (Etiology)

Presently, the exact cause of development of Ermine Phenotype is not well-understood. Some experts believe that the following factors may be involved:

• Immune-mediated processes (autoimmune response)
• Failure of melanocyte migration

What are the Signs and Symptoms of Ermine Phenotype?

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

• Albinism - appearance of pale white, yellow, or lighter than normal color of skin and hair; this may be severe or partial
• Presence of irregular dark skin patches (hyperpigmentation) that appear as skin spots
• Depigmented patches of skin resembling vitiligo
• White hair with black tufts
• Light-colored to white hair on scalp
• White eyebrows and eyelashes
• Sensorineural hearing impairment
• Eye abnormalities in some children such as:
  • Ocular albinism
  • Astigmatism
  • Nystagmus
  • Sensitivity to light (photophobia)
• Small-sized head (microcephaly)
• Weak muscle tone
• Rarely, abnormalities of the digits may be noted

How is Ermine Phenotype Diagnosed?

Ermine Phenotype is diagnosed on the basis of the following information:

• Complete physical examination and thorough medical history evaluation
• Assessment of the presenting signs and symptoms
• Eye examination for structural abnormalities, including:
  • Vision exam
  • Visual-evoked potential (VEP) testing in children with visual problems 
  • Slit-lamp examination
  • Visual acuity test using a special and standardized test chart (Snellen chart)
  • Refraction studies using various instruments
• Hearing assessment through various tests including:
  • Otoscopy: Examination using an instrument that allows the physician to look inside the ear
  • 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

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 Ermine Phenotype?

The complications of Ermine Phenotype may include:

• Emotional stress
• Hearing and visual impairment that may be severe
• Mild intellectual disability
• Decreased quality of life

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

How is Ermine Phenotype Treated?

Currently, there is no cure for Ermine Phenotype. The treatment is usually given to manage the signs and symptoms and any complications that develops. This may include:

• Albinism treatment may involve the use of sunscreens with a high SPF (sun protection factor); cover-up clothing with SPF rating, use of wide-brimmed hats for sunny days
• Hearing impairment may be treated through:
  • The use of hearing aids and other assistive devices for hearing
  • Use of sign language for individuals with severe hearing loss
  • Cochlear implantation, if needed
• For eye abnormalities:
  • Correction of refractive errors through use of suitable lenses
  • Visual aids to help low or poor vision
  • Tinted glasses to reduce light-sensitivity
  • Use of UV-protected sunglasses
  • Laser eye surgery
  • Surgical correction of eye defects

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

How can Ermine Phenotype be Prevented?

Currently, Ermine Phenotype may not be preventable since the cause of the disorder is unknown.

What is the Prognosis of Ermine Phenotype? (Outcomes/Resolutions)

• The prognosis of Ermine Phenotype 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 hearing and vision abnormalities

Additional and Relevant Useful Information for Ermine Phenotype:

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

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