Journal of Dental Research and Review

CASE REPORT
Year
: 2021  |  Volume : 8  |  Issue : 4  |  Page : 317--319

Forme fruste ascher's syndrome – a case report with an overview


A Winnifred Christy, R Thanigainathan, T Jones Raja Devathambi, AR Sanofar 
 Department of Oral Medicine and Radiology, CSI College of Dental Sciences and Research, Madurai, Tamil Nadu, India

Correspondence Address:
A Winnifred Christy
Department of Oral Medicine and Radiology, CSI College of Dental Sciences and Research, Madurai, Tamil Nadu
India

Abstract

A 62-year-old male presented with double upper lip and blepharochalasis of both the eyes. Ptosis was evident in both the eyes with edema in the left eye. His visual acuity was normal. A double upper lip giving a classical cupid bow shape was present. Furthermore, the lower lip was bulky and lax. He had normal thyroid function with no goiter. He was diagnosed with partial expression of Ascher's syndrome, which is a rare entity of unknown etiology. The patient was reassured of the benign nature of the condition. No surgical correction was done as it did not cause a functional problem. This case is reported for its rarity as <100 cases have been reported worldwide.



How to cite this article:
Christy A W, Thanigainathan R, Raja Devathambi T J, Sanofar A R. Forme fruste ascher's syndrome – a case report with an overview.J Dent Res Rev 2021;8:317-319


How to cite this URL:
Christy A W, Thanigainathan R, Raja Devathambi T J, Sanofar A R. Forme fruste ascher's syndrome – a case report with an overview. J Dent Res Rev [serial online] 2021 [cited 2022 May 28 ];8:317-319
Available from: https://www.jdrr.org/text.asp?2021/8/4/317/332924


Full Text



 Introduction



Ascher's syndrome was first defined by Ascher, an ophthalmologist, from Prague in 1920 as a triad of double lip and blepharochalasis with or without nontoxic goiter.[1] About 100 cases have been described worldwide in English literature and very scarce number of cases from India. The exact cause is unknown but found to be inherited as an autosomal dominant trait.[2],[3] It is presented within the first 20 years of life, with the common prevalence between both the sexes, without any racial or geographical predilection. Here, we present a case report of a 62-year-old man with blepharochalasis in bilateral eyes, double upper lip, and flaccid lower lip without evidence of goiter.

 Case Report



A 62-year-old male reported to our hospital with a complaint of painful decayed teeth in the right upper back region for the past 1 month. He had a mild intermittent pain which aggravated on mastication and was relieved spontaneously after some time. He is a hypertensive under medication for the past 3 years and also consumes antihistamines frequently for allergic rhinitis for the past 5 years. On examination, excessive folds were evident over the lid margins of both the eyes, with the drooping of both the eyes with the left eye being severely affected [Figure 1]. The intercanthal distance appeared to be increased than normal under ocular anthropometric measurement. On inquiry, he reported recurrent episodes of upper eyelid edema, which would subside within months. He added that this problem was present from his teenage days. He had no complaints over the findings, as his vision was perfectly normal. The bridge of the nose was depressed giving a saddle nose appearance, and a prominent ala of the nose was present. He had a striking double upper lip which presented due to the diffuse tissue laxity of the upper lip mucosa. It resembled “cupid bow” with the hypertrophic upper lip mucosa and a horizontal sulcus [Figure 2]. A central constriction was seen due to the attachment of the upper labial frenulum. The lower lip was normal at rest. However, on maximal mouth opening, the lower lip appeared bulky with laxity of tissues on the right side [Figure 3]. The double upper lip and the bulky lower lip did not interfere with function. Dental examination showed a decayed 16 with pulp involvement which was tender on probing the tooth and on vertical percussion. Generalized gingival recession was seen. A dental diagnosis of dental caries with apical periodontitis in relation to 16 was made. The patient was subjected to ophthalmic evaluation and thyroid function tests. Visual acuity was 20/40 improving to 20/20 with 1D cylinder in both the eyes.

The thyroid function tests were within normal limits, and ultrasonography of the neck region revealed a normal size of the thyroid gland. As no functional problem was present, the patient was reassured about the benign nature of the double lip and blepharochalasis. The decayed tooth was extracted under local anesthesia. The patient was further advised oral prophylaxis and prosthetic replacement of 16.{Figure 1}{Figure 2}{Figure 3}

 Discussion



Ascher's syndrome occurs with the features of blepharochalasis, double lip, and nontoxic goiter. In 1909, Laffer found the association between blepharochalasis and double lip and hence also known as Laffer–Ascher's syndrome.[1] It is a benign syndrome, occasionally found in association with cleft palate, heterochromia iridum, horizontal narrowing of palpebral aperture, iris coloboma, and clinodactyly.[4] The diagnosis of the syndrome is purely clinical. Blepharochalasis, the term coined by Ernest Fuchs in 1896 and further described by Beer in 1917, occurs due to the exacerbations and remissions of eyelid edema, leading to stretching and atrophy of the upper eyelid skin both unilaterally or bilaterally. It is thought to be a form of localized angioedema. It may lead to laxity of the upper eyelid skin, dehiscence of orbital septum, and aponeurotic ptosis, resulting in the herniation of orbital fat pads and lacrimal gland prolapse. The upper eyelid becomes wrinkled with the appearance of pseudo epicanthal fold in the medial canthal area with damage of the levator palpebrae superioris muscle causing drooping of the eyelid.[5] Impairment of vision may occur due to constriction of the palpebral fissure. In our case, ptosis and wrinkling of the upper eyelid were present in both the eyes. Marginal reflex distance (MRD) is the distance from the margin of the upper lid to the central corneal reflex with normal values of 4.0–4.5 mm and is an index to measure the severity of ptosis.[6] Our patient had a severe degree of ptosis in the right eye where MRD was 2 mm whereas ptosis could not be measured in the left eye as the upper eyelid was almost covering the iris. Levator function was also found to be retarded severely in both the eyes. Although this deformity is being present from childhood, the patient did not undergo any surgical correction as he did not develop complaints of vision. He also disclosed his fear of losing vision on getting ophthalmic correction which showed his ignorant lack of awareness regarding the condition.

Double lip may be congenital or acquired, found more common in the upper lip, rarely involving both the lips. The upper lip mucosa consists of two transverse zones found during the second and third gestational periods as outer cutaneous zone (pars glabra), inner mucosal zone (pars villosa), and lip develop with the disappearance of horizontal sulcus between them.[2] Double lip results from the persistence of the horizontal sulcus with hypertrophy of pars villosa. In our case, double upper lip was evident as two smooth mucosal projections which assumed a classical cupid bow shape even at rest. Most of the cases previously reported show that double lip was marked only during speaking and smiling and it was inconspicuous at rest.[7],[8] In our case, it was more prominently seen at rest which could be explained by the increased thickness of the mucosal tissue which had accumulated during the years of his age. The presence of the bulky lower labial tissues on the right side alone warrants no particular reason. This feature of unilateral thickening of the lower lip has not been reported elsewhere and can be considered as a unique feature of this case. Although the double lip did not cause functional deformity, esthetics was largely compromised. However, due to the age of the patient and his least concern about his esthetics, cosmetic recontouring of the lip was not advised.

Thyroid enlargement is associated with the syndrome in only about 10%–15% cases and hence it is not essential for the diagnosis of Ascher's syndrome.[8],[9] Cases presenting without goiter are reported as incomplete or forme fruste Ascher's syndrome.[10] Our patient had normal thyroid function with no evidence of gland enlargement clinically or by imaging.

Ascher's syndrome is a rare benign entity and this case of ours is being reported for its rarity as it is the sixth case reported from India.

 Conclusion



The findings of bilateral blepharochalasis and double upper lip with no evidence of goiter are consistent with the previous case reports of Ascher's syndrome. However, the presence of a bulky and lax lower lip is an additional finding in our case which has not been reported elsewhere. Although the condition is benign, it needs a long-term follow-up to intervene if it interferes with function.

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

Nil.

Conflicts of interest

There are no conflicts of interest.

References

1Ascher KW. Blepharochalasis mit Struma und Doppellippe. Klin Monbl Augenheilkd 1920;65:86-97.
2Varshaney AP, Gahalaut P, Mishra N, Rastogi MK. Ascher syndrome. Indian J Paediatr Dermatol 2019;20:252-4.
3Neville BW, Damm DD, Allen CM, Bouquet JE. Oral and Maxillofacial Pathology. 2nd ed. Philadelphia (PA): Saunders (Elsevier); 2002. p. 5-6.
4Chandravanshi SL, Mishra V. Ascher's syndrome: A rare case report. Indian J Ophthalmol 2015;63:264-7.
5Mathew MS, Srinivasan R, Goyal JL, Ratnakar C, Garg BR, Reddy BS. Ascher's syndrome: An unusual case with entropion. Int J Dermatol 1992;31:710-2.
6Putterman AM. Margin reflex distance (MRD) 1, 2, and 3. Ophthalmic Plast Reconstr Surg 2012;28:308-11.
7Ramesh BA. Ascher syndrome: Review of literature and case report. Indian J Plast Surg 2011;44:147-9.
8Ali K. Ascher syndrome: A case report and review of the literature. Oral Surg Oral Med Oral Pathol Oral Radiol Endod 2007;103:e26-8.
9Santos PP, Alves PM, Freitas VS, Souza LB. Double lip surgical correction in Ascher's syndrome: Diagnosis and treatment of a rare condition. Clinics (Sao Paulo) 2008;63:709-12.
10Brar BK, Puri N. Blepharochalasis–A rare entity. Dermatol Online J 2008;14:8.