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Brief Communication

Ascher's syndrome

A rare case report

Chandravanshi, Shivcharan Lal; Mishra, Vinay

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Indian Journal of Ophthalmology: March 2015 - Volume 63 - Issue 3 - p 264-267
doi: 10.4103/0301-4738.156933
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Abstract

Ascher's (or Laffer-Ascher's) syndrome is a rare clinical entity which is characterized by blepharochalasis, double upper lip appearance with or without nontoxic goiter.[1] Nontoxic goiter is an inconsistent finding which was seen only in 10–50% cases.[2] Sometimes, it may appear few years after the onset of blepharochalasis, hence, it is not considered essential for diagnosis of Ascher's syndrome.[3] This syndrome was first described by Ascher, an ophthalmologist from Prague, in 1920.[1] Till date, just over 100 cases have been reported in the literature.[3] We report an 18-year-old Indian girl with double upper lip deformity who presented with on and off painless swelling of her both upper eyelids for 3 years.

Case Report

An 18-year-old Indian girl presented to oculoplasty clinic complaining of on and off painless swelling of her both upper eyelids for 3 years. She also had upper lip deformity since infancy. Family history was insignificant. Ophthalmic examination revealed visual acuity 20/40 in both the eyes which improved to 20/20 with - 1 D cylinder at 90° in both the eyes. The eyelids showed bilateral upper eyelid edema, wrinkling and thinning of upper eyelid skin and marked blepharoptosis which was suggestive of blepharochalasis [Fig. 1]. Ocular anthropometric measurement showed outer intercanthal distance 66 mm; inner intercanthal distance 18 mm; interpupillary distance 52 mm; vertical palpebral aperture 6 mm in both eyes; distance from angle of lateral canthus to mid-pupillary area 7 mm in both the eyes; and distance from angle of the medial canthus to mid-pupillary area 11 mm [Fig. 2]. There was no lid lag or lagophthalmos. Extraocular movements were normal. However, lateral movements gave a false impression of the overaction of the lateral rectus due to medial displacement of the lateral canthus [Fig. 3]. Slit lamp examination revealed heterochromia iridum (left eye iris is lighter in color), iris coloboma in the right eye, incomplete pupillary frill in both the eyes and partial persistent pupillary membrane which was attached to anterior lens capsule in the left eye [Figs. 4, 5a and b]. Pupillary reaction, lacrimal apparatus, intraocular pressure, gonioscopy, rest ocular and adnexal examination was unremarkable in both the eyes. Dilated fundus examination showed normal findings. No thyroid enlargement was detected on clinical examination. Otorhinolaryngological examination revealed sensorineural deafness. Oral examination revealed hypertrophy of upper lip mucosa giving an appearance of double upper lip, slightly enlarged lower lip, cleft soft palate, and bifid uvula [Fig. 6ac]. She had hypernasal voice resonance and speech articulation errors. Ultrasonography of thyroid revealed normal size and architecture of the gland. Thyroid function test revealed normal free T3, free T4, and thyroid stimulating hormone level. A clinical diagnosis of Ascher's syndrome was made. Patient received a course of oral prednisolone 1 mg/kg body weight which was failed to resolved blepharochalasis. Options of for surgical correction of deformity of the lip and palate were offered to the patient, but she refused for the same. Because as her blepharochalasis was in the active stage, hence surgical intervention was deferred, and she was kept under periodic follow-up for the appropriate time for surgical intervention.

Figure 1
Figure 1:
Face photograph showed bilateral upper eyelid edema, wrinkling and thinning of the upper eyelid skin and blepharoptosis
Figure 2
Figure 2:
Ocular anthropometric measurements. Note bilateral narrowing of horizontal palpebral fissure and reduced outer intercanthal distance
Figure 3
Figure 3:
Abduction in both the eyes. Note false impression of the overaction of the lateral rectus due to medial displacement of lateral canthi
Figure 4
Figure 4:
Heterochromia iridum (the left iris color is slightly lighter than left)
Figure 5
Figure 5:
(a) Slit-lamp photograph showing iris coloboma and incomplete pupillary frill in the right eye. (b) Incomplete pupillary frill and partial persistent pupillary membrane attached to anterior lens capsule in the left eye. Note bilateral rounding of angle of the lateral canthus
Figure 6
Figure 6:
(a) Double upper lip and slightly enlargement of lower lip. (b) Double upper lip became more prominent on smile. (c) Intraoral photograph showing cleft soft palate and bifid uvula

Discussion

Ascher's syndrome is rare, benign entity of unknown etiology.[34] It has no racial, gender or geographical predilection. It is characterized by bilateral blepharochalasis, double upper lip, and sometimes nontoxic goiter.[2] Diagnosis of Ascher's syndrome is purely clinical.[2345] Onset of blepharochalasis occurs at puberty and is recurrent in nature. Recurrent attacks of painless edema of upper eyelids lead to laxity of the upper eyelid skin, weakness/dehiscence of the orbital septum and aponeurotic ptosis.[4] These anatomical changes in the orbital septum may lead to herniation of orbital fat pads and lacrimal gland prolapse. The upper eyelid skin becomes thin, wrinkled, elastic, atrophic, and gives an appearance of pseudo epicanthal fold in medial canthal area.[4] Other occasionally reported ocular manifestations of Ascher's syndromes are the ectropion, and entropion which may lead to trichiasis and superficial corneal erosions.[4] In our case, few newer findings were observed; horizontal narrowing of the palpebral aperture, iris coloboma, incomplete pupillary frill, and partially persistent pupillary membrane which was attached to anterior lens capsule. In our case, horizontal palpebral fissure length and outer intercanthal distance were less than age- and sex-matched Indian population standards. However, inner intercanthal distance and interpupillary distance were normal.[5] We assume this happened due to dehiscence of lateral canthal tendon from orbital tubercle secondary to recurrent attacks of blepharochalasis. In our case, elongation/dehiscence of lateral canthal tendon is well-appreciated by rounding of lateral canthal angle, reduced distance from the angle of the lateral canthus to mid-pupillary area, and pseudoappearance of the overaction of the lateral rectus. Vertical narrowing of palpebral apertures in Ascher's syndrome may occur due to lid edema in active stage or weakness or dehiscence of aponeurosis of levator palpebrae superioris in long standing or inactive stage. Double upper lip is not a true duplication of lip rather it is an overgrowth of lip mucosa.[2] Nontoxic goiter was observed in only 10–50% cases.[2] In our case, no features of thyroid enlargement or dysfunction were observed. Differential diagnosis of Ascher's syndrome includes hereditary angioedema, early dermatochalasis, acquired cutis laxa, inflammatory fibrous hyperplasia, and granulomatous cheilitis.[6]

To the best of our knowledge, horizontal narrowing of palpebral aperture, decreased outer intercanthal distance, heterochromia iridum, iris coloboma, incomplete pupillary frill, partial persistent pupillary membrane were never reported in patient with Ascher's syndrome. An ophthalmologist should consider it in the differential diagnosis of acquired blepharophimosis. These patients may be benefited with lateral canthoplasty.

References

1. Ascher KW. Blepharochalasis mit Struma und Doppellippe Klin Monbl Augenheilkd. 1920;65:86–97
2. Ali K. Ascher syndrome: A case report and review of the literature Oral Surg Oral Med Oral Pathol Oral Radiol Endod. 2007;103:e26–8
3. Ruiz-Villaverde R, Anguita-Carazo JL, Sánchez-Cano D. Laffer-Ascher's syndrome mimicking hereditary angio-edema Int J Dermatol. 2009;48:914–5
4. Mathew 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
5. Gupta VP, Sodhi PK, Pandey RM. Normal values for inner intercanthal, interpupillary, and outer intercanthal distances in the Indian population Int J Clin Pract. 2003;57:25–9
6. Dalmau J, Puig L, Roé E, Peramiquel L, Pimentel CL, Alomar A. Blepharochalasia and double lip: Diagnosis and treatment of Ascher's syndrome J Eur Acad Dermatol Venereol. 2006;20:1390–1

Source of Support: Nil.

Conflict of Interest: None declared.

Keywords:

Ascher's syndrome; blepharochalasis; double upper lip; Laffer-Ascher's syndrome; nontoxic goiter

© 2015 Indian Journal of Ophthalmology | Published by Wolters Kluwer – Medknow