The Prague ophthalmologist Ascher first described Ascher syndrome in 1920. In Belgium and the Netherlands together, a handful of people may suffer from this very rare and sometimes hereditary congenital condition, which is also known as “Laffer-Ascher syndrome” or “Ascher syndrome”. The painless syndrome is characterized by a combination of blepharochalasis (too much skin around the eyelids), a double (upper) lip and non-toxic thyroid enlargement, although the presence of these three symptoms at the same time is very unusual. Surgical treatment is possible for this condition.
- History of Ascher syndrome
- Epidemiology Laffer-Ascher syndrome
- Causes of the condition
- Symptoms: Face, eyes and thyroid
- Diagnosis and examinations
- Therapy
- Prognosis
- Interest group / Patient group
History of Ascher syndrome
Laffer first described the Ascher syndrome as a combination of the double lip and blepharochalasis in 1909. However, the ophthalmologist Ascher described the syndrome in 1920 as a triad of a double upper lip, blepharochalasis as well as a non-toxic thyroid enlargement. The syndrome is therefore also known as the Laffer-Ascher syndrome.
Epidemiology Laffer-Ascher syndrome
Worldwide, the prevalence of the congenital condition is estimated at <1/1,000,000. This is therefore an extremely rare condition.
Causes of the condition
The exact cause of Ascher syndrome is still unknown. The disease usually occurs spontaneously without a family history. The syndrome is inherited in an autosomal dominant manner. The syndrome has no specific predisposition regarding gender, race or geography.
Symptoms: Face, eyes and thyroid
This syndrome is characterized by problems involving the face, eyes and thyroid gland.
Sight
The syndrome rarely involves the lower lip or both lips. The double lip occurs as a result of lip development disorders. The formation of the lip normally occurs during the second or third month of pregnancy of the pars glabrosa (outer skin zone; this is smooth and comparable to the skin) and the pars villosa (inner mucosal zone; this is comparable to the oral mucosa) whereby the horizontal groove between the two disappears. A persistent horizontal groove with hypertrophy of the pars villosa results in a double upper lip.
Eyes
Blepharochalasis (too much skin around the eyelids) or episodic edema of the (upper) eyelid appears around puberty and is present in 80% of cases. This is usually bilateral but fortunately rarely leads to visual impairment or other ocular complications. The upper eyelid skin appears thin, wrinkled, elastic and atrophic because tissue hangs loosely over the palpebral fissure. In severe cases, the lower eyelid is also involved. Ectropion and entropion occur very sporadically, leading to trichiasis and superficial corneal erosions.
Thyroid
The patient has a euthyroid goiter (non-toxic thyroid enlargement). This presents observed in 10-50% of cases. The thyroid enlargement (goiter) usually presents itself several years after the first blepharochalasis and the double upper lip. For this reason, thyroid enlargement is not strictly necessary for the diagnosis of Ascher syndrome.
Diagnosis and examinations
Physical examination
The diagnosis is purely clinical. Doctors often miss or misdiagnose Ascher syndrome because it is so rare and therefore unknown, and because the main symptoms are not necessarily all present. The identification and diagnosis of the symptoms requires collaboration with several medical disciplines: ophthalmologist, ENT doctor and dentist/surgeon. For the sake of the aesthetic aspect, a patient usually goes to a dentist when he has a double upper lip. He is therefore an important link in bringing the diagnosis to the fore if he were to notice another of the other main symptoms. This implies that a dentist has an important referral function when diagnosing Ascher syndrome.
Differential diagnosis
The differential diagnoses include vascular tumors, lymphoma, angioedema (swelling of deeper skin layers), cheilitis granulomatosis, Miescher syndrome, salivary gland tumors, inflammatory fibrous hyperplasia, sarcoidosis and plasma cell cheilitis.
Therapy
Both medication and surgical intervention are possible for blepharochalasis. Indications for surgery include visual acuity problems or other ocular complications. It is best for an ophthalmologist to monitor the patient periodically. Surgical excision of the double lip is indicated when the patient has difficulty chewing or speaking or for aesthetic reasons.
Prognosis
The prognosis of this syndrome is good; the symptoms are not life-threatening. These deformities usually do not pose any functional problems, but often cause serious psychological problems in a patient. Especially on an aesthetic level, the double upper lip causes bullying because of the unattractive view when the patient smiles.
Interest group / Patient group
There is no contact group or interest group, either nationally or internationally. This may be because doctors diagnose this syndrome very rarely.
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