Ascher Syndrome – A Rare Case Report

INTRODUCTION

Ascher syndrome, also known as Laffer–Ascher syndrome, is a benign and rare skin disorder first identified in 1920 by an ophthalmologist.^[1] With an estimated prevalence of less than one case per million people, it remains poorly documented, with under 100 cases described worldwide and only a few originating from India.^[2] The syndrome is typically identified by a trio of clinical signs: A double upper lip, sagging of the upper eyelids (blepharochalasis) and a non-toxic enlargement of the thyroid gland. However, thyroid involvement is not consistently observed in all patients and is not essential for diagnosis.^[3] When thyroid swelling is absent, the condition is considered an incomplete or forme fruste variant.^[4] This paper presents a case involving a young female diagnosed with an incomplete form of Ascher syndrome.

CASE REPORT

A 16-year-old female visited the dermatology outpatient clinic with a 6-year history of swelling involving both lips and a 3-year history of recurrent upper eyelid swelling. The lip enlargement developed gradually and reached its current size over 3 years. The patient described a sensation of heaviness and firmness in the lips but denied any pain, drooling or difficulty while eating. She also reported repeated, painless swelling episodes of both upper eyelids lasting several days over the past 3 years, which eventually became persistent.

There was no history of trauma to the lips or habitual behaviours like lip sucking. Her family history was unremarkable, and she exhibited no developmental issues or similar symptoms elsewhere on the body. There were no associated complaints involving the gastrointestinal, ocular, auditory or urinary systems. The patient denied experiencing fever, chronic cough, appetite loss, weight loss or gastrointestinal bleeding.

General examination findings were within normal limits. On skin examination, both the upper and lower lips appeared enlarged at rest. Upon smiling, a horizontal crease became visible in the upper lip, creating the impression of a duplicated lip [Figure 1]. The lips were soft, compressible and measured 1.5 cm and 1 cm in thickness for the upper and lower lips, respectively. The skin over the upper eyelids was thin, puffy and loose, with blepharochalasis more pronounced on the right side [Figure 2]. Ophthalmologic evaluation did not reveal any abnormalities. No clinical or ultrasound evidence of thyroid enlargement was present.

Close

Figure 1: Bulky upper and lower lips. On smiling, a horizontal sulcus can be seen in the upper lip, giving the appearance of two upper lips.

Export to PPT

Close

Figure 2: Blepharochalasis (eyelid swelling) is present bilaterally but more appreciated on the right side.

Export to PPT

Laboratory investigations – including complete blood count, urine and stool examination, liver and renal function tests, complement levels and erythrocyte sedimentation rate – were all within normal limits. Serum angiotensin-converting enzyme levels and antinuclear antibody tests were also unremarkable. Thyroid function tests and sonographic evaluation confirmed normal thyroid gland size and function. Pulmonary function tests yielded normal results. Histopathological analysis of a biopsy from the upper lip mucosa revealed mild chronic inflammation around blood vessels, with normal submucosal glands and no evidence of granuloma. Based on the clinical profile and exclusion of other potential conditions, a diagnosis of incomplete Ascher syndrome was made.

DISCUSSION

Ascher syndrome is an uncommon clinical disorder, primarily emerging during childhood or adolescence. While it may be inherited in certain individuals through a dominant genetic mechanism, other potential contributing factors include repetitive trauma and hormonal imbalances.^[5] The syndrome is commonly recognised by the presence of three distinct signs: An enlarged upper lip due to labial salivary gland hypertrophy and inflammation, blepharochalasis (recurrent eyelid swelling) and an enlarged thyroid that functions normally without elevated hormone levels. Although thyroid involvement commonly develops subsequent to the initial manifestations in the lips and eyelid regions, it is not seen in all patients and is not required to confirm the diagnosis.^[6] A duplicated upper lip may be either congenital or acquired, and in rare circumstances, the lower lip may also be affected.^[3]

The acquired form is frequently associated with habits such as chronic lip manipulation, while the congenital variant results from developmental anomalies.^[6,7] Lower eyelid swelling tends to appear only in more advanced presentations.^[8] The earliest feature often consists of transient bilateral eyelid puffiness, which gradually leads to loosened eyelid tissue and eventual thinning of surrounding structures. The condition follows a staged pattern – starting with recurrent eyelid swelling, transitioning to muscle-induced eyelid sagging and culminating in visible fat pad depletion.^[9]

Initial episodes may be mistaken for other disorders such as hereditary angioedema, acquired cutis laxa or granulomatous cheilitis.^[10] Similarly, lip swelling should prompt a thorough differential diagnosis to exclude vascular tumours, mucoceles, lymphangiomas, salivary gland tumours and other inflammatory or reactive conditions.^[7]

In our reported case, the absence of thyroid gland involvement indicated an incomplete presentation. Although pharmacological treatments have shown limited success,^[11] cosmetic or reconstructive surgery can be a valuable option when the syndrome interferes with essential functions such as eyesight, verbal articulation, mastication or eye integrity. Surgical procedures are typically postponed for a year after the last eyelid swelling to minimise the risk of recurrence.^[12] Despite generally favourable outcomes, occasional relapses have been reported.^[13]

CONCLUSION

Ascher syndrome is a rare case which may or may not present present with the complete triad of double upper lip. blepharochalasis and thyroid enlargement. it is a difficult to treat condition with no well defined treatment protocols and frequent relapses. Due to financial concerns and risks associated with surgery, the patient in our case opted against further intervention.