|Year : 2020 | Volume
| Issue : 4 | Page : 405-407
Ascher Syndrome: A Case Report
Sunil S Mishra1, Anita D Munde1, Sneha S Tambe2, Anjum Ara J. Farooqui1
1 Department of Oral Medicine and Radiology, Rural Dental College, Pravara Institute of Medical Sciences, Ahmednagar, Rahata, Loni, Maharashtra, India
2 Department of Oral Medicine and Radiology, SMBT Dental College, Dhamangaon, Nashik, Maharashtra, India
|Date of Submission||15-Jul-2020|
|Date of Decision||19-Nov-2020|
|Date of Acceptance||19-Nov-2020|
|Date of Web Publication||28-Dec-2020|
Dr. Sunil S Mishra
Department of Oral Medicine and Radiology, Rural Dental College, Pravara Institute of Medical Sciences (Deemed University), Ahmednagar, Rahata, Loni - 413 736, Maharashtra
Source of Support: None, Conflict of Interest: None
| Abstract|| |
The Ascher or Laffe–Ascher syndrome is characterized by blepharochalasis, double lip and nontoxic thyroid enlargement. The syndrome is a rare manifestation and often remains undiagnosed. We report a case of Ascher syndrome in a 16 years old boy with double lip including upper and lower lip, blepharochalasis and an additional finding of mild clinodactyly which makes it a rare presentation. The article describes in brief an overview of the syndrome.
Keywords: Ascher syndrome, blepharochalasis, clinodactyly, double lip
|How to cite this article:|
Mishra SS, Munde AD, Tambe SS, J. Farooqui AA. Ascher Syndrome: A Case Report. J Indian Acad Oral Med Radiol 2020;32:405-7
| Introduction|| |
Although Laffer first reported a case of double lip and blepharochalasis in 1909, it was Ascher, an ophthalmologist who noted the recurrent association of these findings plus thyroid enlargement and hence, is also known as Laffer–Ascher syndrome.,, It begins at puberty and often causes psychological disturbances to the patient due to facial deformation. It is a rare disorder with prevalence <1 case/million population, with <100 cases reported in the literature worldwide and very few cases from India. We report a case of Ascher Syndrome with an additional finding of mild clinodactyly, a rare combination.
| Case Report|| |
A 16-year-old old boy presented to the Dental OPD with a complaint of swelling on upper and lower lip. Patient's father reported the aesthetic deformity since past two years with drooping eyelids. Patient had consulted few local practioners but no diagnosis was given. The swelling gradually increased to present size. There was no related family history, no history of trauma and oral or lip-sucking habits. [Diagram 1] shows the timeline of history. The patient's father mentioned how the boy had to face the teasing from his friends and classmates due to the deformity and the impact of it could be observed as the boy was shy to talk. A written informed consent of the patient was obtained.
On examination swelling of the complete upper lip and right half of lower lip was evident in repose [Figure 1]a. On smiling the horizontal sulcus appeared on the upper and lower lip giving it the double lip appearance [Figure 1]b. On palpation the swelling was soft in consistency, non-tender and non-compressible. The buccal part of the double lip with upper lip was 54 mm in length and 6 mm in height in right segment and 4 mm in height with left segment of the upper lip. The buccal part of the double lip with the lower lip was 27 mm in length and 4 mm in height. The eyelid showed blepharochalasis with moderate ptosis with the skin over the upper eyelid being soggy and wrinkled [Figure 2]. The visual acquity and lower eyelid of the patient was normal. On further examination, bilateral submandibular lymphadenopathy was noted. Examination of phalanges showed slight curving of the third finger and ring finger on right hand [Figure 3]a. Oral examination revealed crowding with lower anterior teeth and labially placed mandibular right canine.
|Figure 1: (a) Lip in resting position (b) Lip in smiling showing the persistence of horizontal sulcus|
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|Figure 3: (a) Clinical picture showing mild clinodactyly of right hand (b) Radiograph of the right hand|
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Panoramic radiograph revealed no abnormality. Distal phalanx of the third finger and ring finger of right hand showed a slight degree of curvature on radiographs giving an impression of mild clinodactyly [Figure 3]b. With Ascher syndrome as provisional diagnosis, thyroid investigations including ultrasonography (neck) were advised. The blood investigation reports were within normal range [Table 1].
As the patient was disturbed due to repeated teasing, counseling session was arranged. The patient was advised surgical correction but due to upcoming board examinations the patient's father decided to postpone the treatment.
Regular communications were made to the patient to visit the hospital for two years with no success in convincing the patient for treatment.
Patient was shy to talk. Patient's father (Marathi) “He has stopped talking due to the constant teasing”.
| Discussion|| |
The etiology of the disease is unknown, although most cases are sporadic but few familial cases reported suggest autosomal dominant transmitted condition.,, Some authors have also suggested genetic association, trauma and hormonal dysfunction., E. Fuchs (1896) coined the term “blepharochalasis”, described as relapsong edematous tumefaction and increasing relaxation of the eyelids with atrophy of the skin. Pathologically it is a form of localized angioedema with decrease in dermal elastin. It starts in puberty without any particular sex predilection; presents as ptosis with emergence of pseudoepicanthal folds, conjuctival redness and narrowing of palpebral fissure which can lead to visual impairment. Most cases involve upper eyelids only and lower eyelid involvement is rare. It is characterized by three stages: stage of oedema, stage of atonic ptosis and stage of ptosis adiposa.,, Differential diagnosis includes floppy eyelids, herniated orbital fat and dermatochalasis which are observed in obese middle-aged men associated with obstructive sleep apnea.
Double lip usually affects upper lip and rarely involves lower lip or both lips and is associated with a history of recurrent swelling. Normal development of lips occurs during second and third month of gestation followed by disappearance of horizontal sulcus located between pars glabrosa (outer cutaneous area) and pars villosa (inner cutaneous area). The persistence of this horizontal sulcus and hypertrophy of the mucosa gives the double lip appearance., Double lip has been found with other conditions such as bifid uvula, cleft palate, cheilitis and facial hemangiomas.,,, In our case both upper and lower lips were involved which is again a rare presentation.
Non-toxic thyroid enlargement is present only in 10-50% of the cases of Ascher syndrome. In our case there was no thyroid involvement. Zhao et al. had reported a case of Ascher Syndrome associated with Hashimoto's Syndrome. Parmar R et al. reported a newly undescribed syndrome with combination of double upper and lower lip, hypertelorism, unilateral eyelid ptosis, blepharophimosis and bilateral third finger clinodactyly. In our case there was an additional finding of mild clinodactyly.
Treatment primarily includes cosmetic surgical management. Surgical excision of double lip can be suggested for disturbances in speech, chewing, smiling or aesthetic reasons. Several techniques (W-plasty, Z-plasty, triangular incision, horizontal incision, advanced Y-V technique) have been attempted but the easiest of them is believed to be elliptical incision. For blepharochalasis “bird's tail” incision is the commonly used technique to compensate for tissue excess at the lateral area of the lids. Indications for surgery are visual acuity disturbance or ocular complications. However, it is recommended that surgical procedure should be performed at least 6 months after the most recent episode of exacerbation of eyelid oedema.
| Conclusion|| |
Ascher syndrome, an aesthetic deformity, has an impact on the psychological state of the patient which was noticed in this case too. Apart from the surgical correction such patients also requires counseling to boost their self-confidence and have a normal social life and a healthy state of mind.
Declaration of patient consent
The authors certify that they have obtained all appropriate patient consent forms. In the form the patient(s) has/have given his/her/their consent for his/her/their images and other clinical information to be reported in the journal. The patients understand that their names and initials will not be published and due efforts will be made to conceal their identity, but anonymity cannot be guaranteed.
Financial support and sponsorship
Conflicts of interest
There are no conflicts of interest.
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[Figure 1], [Figure 2], [Figure 3]