|Year : 2019 | Volume
| Issue : 3 | Page : 252-254
Ajitesh Prakash Varshney, Pratik Gahalaut, Nitin Mishra, Madhur Kant Rastogi
Department of Dermatology, Sri Ram Murti Smarak Institute of Medical Sciences, Bareilly, Uttar Pradesh, India
|Date of Web Publication||28-Jun-2019|
Dr. Ajitesh Prakash Varshney
Department of dermatology, OPD No. 13, Sri Ram Murti Smarak Institute of Medical Sciences, Bhojipura, Bareilly - 243 202, Uttar Pradesh
Source of Support: None, Conflict of Interest: None
The triad of blepharochalasis, double lip, and nontoxic thyroid enlargement characterizes Ascher syndrome. We describe the case of a 16-year-old female who presented with progressive laxity and swelling of the skin associated with recurrent progressive episodes of painless swelling of the eyelids with increase in the size of the upper lip and diffuse swelling over the neck. We discuss this case for rarity of its presentation in the Indian population.
Keywords: Ascher syndrome, blepharochalasis, Laffer–Ascher syndrome
|How to cite this article:|
Varshney AP, Gahalaut P, Mishra N, Rastogi MK. Ascher syndrome. Indian J Paediatr Dermatol 2019;20:252-4
| Introduction|| |
Ascher syndrome was first described in 1920 by an ophthalmologist K W Ascher. It usually presents as a triad of blepharochalasis, double lip, and nontoxic thyroid enlargement. The syndrome can occur without nontoxic enlargement of the thyroid gland and is then considered as the forme fruste or incomplete form. It is a very rare disorder with prevalence <1 case/million population, with <100 cases reported in the literature worldwide, out of which very few are from India.,,,
| Case Report|| |
A 16-year-old female presented to the outpatient department with gradually progressive laxity and swelling of skin for the past 5 years, which first started with skin around eyes and then slowly progressed over years to involve the entire face and abdomen; it was associated with recurrent episodes of painless swelling of both eyelids which was progressive with each episode [Figure 1] and [Figure 2]. The patient gave a history of progressive increase in size of the upper lip. The patient also gave a history of progressive weight gain associated with lethargy. There was no relevant personal history of any major medical or surgical illness in the past nor was there any familial history of similar illness.
|Figure 1: Infiltrated skin with prominent skin markings giving a look of a more mature face compared to actual age of 16 years|
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|Figure 2: Swelling of both the eyelids with skin laxity and Peau d'orange appearance of face|
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Clinical examination showed diffuse infiltrated, wrinkled, lax skin with overlying telangiectasias involving both upper eyelids where the skin was thrown into folds giving appearance of bilateral ptosis. Multiple skin-colored papules and infiltrated plaques with prominent skin markings were present diffusely over cheeks, temples, forehead, and abdomen. The mucosa of the upper lip was thickened and redundant, giving it the appearance of double lip. There was discrete firm palpable swelling over the neck suggestive of thyroid enlargement; however, thyroid function tests were normal.
Histopathological examination showed loose dermis with few telangiectatic vessels and mild perifollicular and perivascular infiltrate. On Orcein and Verhoeff–Van Gieson stain, there was decreased density of elastin fibers in papillary and reticular dermis, elastin fibers were sparse and some were fragmented suggestive of dermal elastolysis [Figure 3].
|Figure 3: Histopathology image (×400) with Verhoeff–Van Gieson stain shows decreased density of segmental elastin fibers in papillary and reticular dermis|
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The patient was referred to plastic surgery for blepharoplasty, but the patient refused.
| Discussion|| |
Ascher syndrome presents within the first 20 years of life. It is a combination of blepharochalasis with progressive enlargement of the upper lip due to hypertrophy and inflammation of the labial salivary glands. Onset of blepharochalasis is recurrent and is usually seen at puberty. There are multiple attacks of painless edema of upper eyelids leading to laxity of the upper eyelid skin, which may cause weakness of the orbital septum and ptosis.
Our patient had a similar presentation. Double upper lip is not due to true duplication of the lip but due to overgrowth of lip mucosa. The lip normally develops during the second or third month of gestation from the pars glabrosa (outer cutaneous zone) and the pars villosa (inner mucosal zone) with disappearance of horizontal sulcus between them. Persistence of horizontal sulcus with hypertrophy of pars villosa leads to double upper lip. The treatment for double lip is surgical excision.
Factors such as trauma and hormonal dysfunction have been suggested, the exact cause is unknown, and it may be inherited in an autosomal dominant fashion.
Clinically, it is characterized by a triad of double upper lip, blepharochalasis, and nontoxic enlargement of the thyroid gland. Blepharochalasis starts at puberty and usually both upper eyelids are involved. Pathologically it is a form of localized angioedema with decrease in dermal elastin. Thyroid enlargement usually presents several years after the initial eyelid and lip edema and is seen in 10%–50% of patients. It is not essential for the diagnosis. In about 10% cases, euthyroid goiter is seen as was seen in our case. Acquired-type Ascher syndrome usually results from trauma or oral habit, whereas the congenital type is a developmental anomaly.
No specific pharmacological treatment exists for the syndrome. Cosmetic surgery is the treatment of choice when the condition interferes with vision, speech, and chewing. Surgical treatment to excise the excess tissue of eyelids or lips can be carried out. Good functional and cosmetic results are usually obtained, although recurrence is occasionally reported.
Declaration of patient consent
The authors certify that they have obtained all appropriate patient consent form. In the form, patient's parent has given consent for images and other clinical information to be reported in the journal. The patient's parent understands that name and initials will not be published and due efforts will be made to conceal identity, but anonymity cannot be guaranteed.
The authors would like to thank (1) Dr. Manisha Thapa, assistant professor Department of Dermatology, Shri Ram Murti Smarak Institute of Medical Sciences and (2) Dr. Asha Kubba and Dr. Meenakshi Batrani (Delhi Dermpath Laboratory) for the microscopic images.
Financial support and sponsorship
Conflicts of interest
There are no conflicts of interest.
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[Figure 1], [Figure 2], [Figure 3]