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

• Ascher's Syndrome
• Blepharochalasis and Double Lip
• Double Upper Lip, Blepharochalasis and Enlargement of Thyroid Gland

What is Ascher Syndrome? (Definition/Background Information)

• Ascher Syndrome is an uncommon skin condition that is characterized by persistently swollen lips and eyelids, along-with enlargement of the thyroid gland (goiter)
• The cause of Ascher Syndrome is generally unknown, but experts speculate that it may be due to trauma or genetic factors
• A diagnosis of the condition is generally challenging since it is very rare. Ascher Syndrome may potentially lead to complications such as eating difficulties and vision impairment
• The treatment of Ascher Syndrome may involve surgical correction of the facial (lip and eyelid) abnormalities. With adequate treatment, the prognosis is generally good

Who gets Ascher Syndrome? (Age and Sex Distribution)

• Ascher Syndrome is a very rare disorder that may be observed in individuals of any age category
• Congenital forms of the disorder are also reported, meaning that 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 Ascher Syndrome? (Predisposing Factors)

The risk factors for Ascher Syndrome may include:

• Trauma
• Developmental anomalies prior to birth of the child
• A positive family history may be an important risk factor, since Ascher 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 Ascher Syndrome? (Etiology)

The exact cause of development of Ascher Syndrome is not well-understood. A few cases are reportedly inherited in an autosomal dominant manner, meaning in such cases, a family history of the disorder is noted. However, many cases are observed to occur sporadically.

• Congenital forms of the condition are believed to arise from fetal developmental issues
• In acquired forms of the condition, medical experts believe that it may arise from trauma

Autosomal dominant: 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 Ascher Syndrome?

The signs and symptoms of Ascher Syndrome may vary among individuals, but may include:

• Eye abnormalities such as:
  • Blepharochalasis or persistent eyelid inflammation and edema with alternate remission and worsening causing atrophic eyelid tissues; this is seen in about 80% of the cases
  • Blepharophimosis or underdeveloped eyelids at birth, due to which the individual is unable to open the eyelids completely
• Mouth abnormalities, especially of the lip, including cheilitis (lip inflammation) and double lip
• Nontoxic goiter, or thyroid enlargement, which may be noted in between 10-50% of the individuals

Other observed signs and symptoms include:

• Drooping eyelid (ptosis) and painless edema
• Widely set eyes and nose
• Visual impairment
• Split uvula
• Cleft palate
• Thickening of the gums

How is Ascher Syndrome Diagnosed?

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

• Physical examination of the individual and medical history evaluation
• Assessment of the presenting signs and symptoms
• Eye and vision exams
• 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
• Skin biopsy, if necessary: A skin 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
• Prenatal testing including abdominal ultrasound scans

A differential diagnosis may be necessary to eliminate other conditions that present similar signs and symptoms. This may include:

• Angioedema
• Granulomatous cheilitis
• Orofacial granulomatosis
• Phymatous rosacea

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 Ascher Syndrome?

The complications of Ascher Syndrome may include:

• Difficulty in eating and chewing
• Lack of proper vision
• Stress due to cosmetic concerns
• Hypothyroidism

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

How is Ascher Syndrome Treated?

The treatment of Ascher Syndrome may include:

• Cosmetic surgery to correct facial abnormalities including double lip
• Correction of visual disturbances, including surgery for eyelid edema

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

How can Ascher Syndrome be Prevented?

Currently, Ascher 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

What is the Prognosis of Ascher Syndrome? (Outcomes/Resolutions)

• The prognosis of Ascher Syndrome is dependent upon the severity of the signs and symptoms and associated complications
• In most cases, the prognosis is good following adequate treatment, including surgery to correct lip and eye defects

Additional and Relevant Useful Information for Ascher Syndrome:

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

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