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blepharochalasis_syndrome

Blepharochalasis Syndrome

Key Words and Terms: lymphedema, blepharochalasis, eyelid edema, lymphedema ptosis, lymphedema distichiasis, orbital septum, blepharoplasty , atonic blepharochalasis, bilateral blepharochalasis, collagen degradation, collagen fibres, cutis laxa, elastic fibres, fibronectin, IgA deposits, periorbital oedema, Blepharoplasty, Lateral canthoplasty, Dermis fat grafts, Chemosis, Entropion, Ectropion

Discussion

This is a very rare condition involving swelling (edema) of the eyelid. It generally affects younger individuals and is characterized by lax, thin and wrinkled eyelid skin. The condition affects the upper eyelids and the lower ones arenot commonly involved. It was first described in 1817 by Beer and subsequently named in 1896 Fuchs

It may be misdiagnosed also as eyelid lymphedema, or simple angioedema. Recurrent episodes damage the skin and eventually may lead to atrophic skin. Damage to the palpebraae superioris muscle causes ptosis (eyelid drooping).

Causes

Thought to be idiopathic, but the specific cause remains unknown as does genetic information

“Others have proposed that blepharochalasis is exacerbated by hormonal influences (may explain the common onset with puberty), menstrual cycles, upper respiratory tract infections, and allergies. In several individuals, systemic abnormalities (eg, vertebral anomalies, renal agenesis, congenital heart disease) have been found.” (1)

Diagnosis

The diagnosis is made through examination and clinical history. To rule out other conditions the physician may use imaging studies such as ultrasonography, CT scan, or MRI. Generally this is done to exclude dysthyroid orbitopathy, idiopathic orbital inflammation.

Complications

Complications of blepharoshalasis include conjunctival hyperemia (excessive blood flow).

Other complications include:

Chemosis – swelling of the conjunctiva.

Entropion – the eyelid (usually lower) folds inward.

Ectropion – the lower eyelid turns outwards.

Physical Characteristics

Physical presentation includes nonerythematous edema of the lower eyelids. Thinning of the eyelid skin may be present in the active stage of the disease. Other physical findings include proptosis, blepharoptosis, blepharophimosis, conjunctival injection, and eyelid malposition. (1)

Treatment

Several surgeries may be used to help the conditions and/or complications.

The surgeries include:

External levator aponeusosis tuck – surgery to elevate the eylids

Blepharoplasty – surgical modification of the eyelid. Tissue may be removed or repositioned.

Lateral canthoplasty – Cutting the canathus (the corner of the eye where the upper and lower eyelids meet)

Dermis skin grafts

Differential Diagnosis

Dermatochalasis – redundant and lax eyelid skin and muscle.

Lymphedema Ptosis

Lymphedema Distichiasis

Thyroid-associated ophthalmopathy, Hereditary angioedema, Idiopathic orbital inflammation, Cavernous sinus thrombosis, orbital cellulitis, dacryoadenitis, lacrimal gland tumor, sarcoidosis, Orbital hemangioma, Lymphoma, Localized cutis laxa, floppy eyelid syndrome, contact dermatitis, ST1571, Gleevec) toxicity

(1) Blepharochalasis Syndrome eMedicine

Abstracts and Studies

Doxycycline for Treatment of Blepharochalasis via Inhibition of Matrix Metalloproteinases.

Sept 2011

Karaconji T, Skippen B, Di Girolamo N, Taylor SF, Francis IC, Coroneo MT.

Source

*Department of Ophthalmology, Prince of Wales Hospital, Randwick; †Inflammatory Diseases Research Unit, Department of Pathology, School of Medical Sciences and ‡Department of Medicine, University of New South Wales; §Macquarie University Hospital, Sydney; and ¶Ocular Plastics Unit, Department of Ophthalmology, Prince of Wales Hospital, Randwick, NSW, Australia.

Abstract

Two cases of blepharochalasis were studied. In Case 1, a 16-year-old male presented with the history and clinical features of blepharochalasis. A positive tissue biopsy for matrix metalloproteinases suggested a benefit from treatment with doxycycline. The patient remained disease-free for 18 months following commencement of doxycycline. In Case 2, a 21-year-old male with a 5-month history of swelling affecting his upper eyelids was diagnosed with blepharochalasis. He received an 8-month course of doxycycline and remained symptom-free on review 2 months after treatment cessation. While the pathogenesis of blepharochalasis has remained uncertain, an immune mechanism has been suspected. The presence of matrix metalloproteinases in the tissue biopsy of our first patient supports such an immune mechanism. As doxycycline inhibits matrix metalloproteinase activity, it may provide an effective and well-tolerated treatment alternative for cases ofblepharochalasis for which surgery has previously been the only treatment option.

Lippincott, Williams, Wilkins

Infraeyebrow excision blepharoplasty for Japanese blepharochalasis: review of 35 patients over 60 years old.

Feb 2010

Sugamata A, Yoshizawa N.

Source

Department of Plastic and Reconstructive Surgery, Tokyo Medical University Hachioji Medical Center, Tokyo, Japan. sugamata@tokyo-med.ac.jp

Abstract

Keywords Blepharochalasis, blepharoplasty, infraeyebrow excision

Since 2005 we have treated many older patients with upper blepharochalasis but no obvious aponeurotic ptosis by infraeyebrow excision of skin and orbicular muscle with tucking of the orbital septum. Thirty-five patients (70 lids) were studied, age range 61-80 years (mean 68). There were 6 men and 29 women, who were followed up for 3 months to 2 years (mean 7 months). All patients reported improvement in the upper visual fields and lessening of headaches and neck stiffness. The lateral drooping of the lid also improved, and the crease was more clearly defined than before the operation. There were no serious complications. We conclude that infraeyebrow blepharoplasty with tucking of the orbital septum is a simple and effective treatment for blepharochalasis in older East Asian patients.

Informa Healthcare

Blepharochalasis.

Comment “Letter to the Editor”

2009

Polavarapu Mercy, Ashok Ghorpade, Manabendra Das, Abdulla Soud, Shruti Agrawal, Ashok Kumar Department of Dermatology, Venereology and Leprosy, J.L.N Hospital and Research Centre, Bhilai-490 006, Chhattisgarh, India Correspondence Address: Ashok Ghorpade 1B, Street 13, Hospital Sector, Bhilai, Chhattisgarh India Sir,

Blepharochalasis is a rare degenerative disease of the skin of the eyelids, characterized clinically by bilateral or unilateral swelling followed by laxity, atrophy, wrinkling and pigmentary changes, predominantly of the upper eyelids. The skin of the eyelids becomes so lax that it droops as redundant folds over the lid margins. The term blepharochalasis was first coined by Fuchs in 1869, meaning eyelid relaxation in Greek. It is also termed ptosis atonia, ptosis adipose and dermatolysis palpebrum .

A 21-year-old female presented with laxity of the skin of the upper eyelids for the past 4 months. The problem first manifested at the age of 16 years, when she developed mild fever of 2 days duration followed by bilateral periorbital swelling. This was followed by a gradual increase in the laxity of the skin of the upper eyelids. She underwent cosmetic blepharoplasty in the plastic surgery department of our hospital 3 years ago. Initially, the results were good but, after 1 year, the skin again became lax following eyelid swelling. She was not given any medical treatment and was advised repeat blepharoplasty after stabilization of her condition. Her family history was not contributory and her twin sister did not have similar complaints.

Local examination revealed lax wrinkled skin of the upper eyelids with no pigmentary changes. The skin at other sites was normal. There was no swelling of the lips or the thyroid region. Her systemic examination was normal. Complete hemogram, liver, renal and thyroid function tests were normal.

The exact etiology of blepharochalasis is not known. Most of the cases are sporadic, but autosomal-dominant inheritance has been noted in a few pedigrees. [1] The condition develops insidiously around puberty, characterized by repeated transient attacks of swelling of the eyelids lasting for a few days, followed by laxity, atrophy, wrinkling and pigmentary changes predominantly involving the upper eyelids, although involvement of the lower eyelids and unilateral involvement has been reported. [3] Systemic conditions associated with blepharochalasis are renal agenesis, vertebral abnormalities and congenital heart disease. The eyelid changes cause a lot of cosmetic disfigurement and the affected person looks prematurely aged. About 10% of the cases may have reduplication of the mucous membranes of the upper eyelid, causing apparent thickening of the lids.

Three stages are described in the evolution of blepharochalasis. The first is the recurrent angioedema, while the second stage, which is characterized by discolored, flabby and lax skin, is called the stage of atonic ptosis. In the third stage, there is further relaxation of the tissues of the orbital septum, with prolapse of the orbital fat leading to interference of vision. This stage is called ptosis adipose. Most of the cases are reported in the second stage, as in our case.

Blepharochalasis can be diagnosed with the help of a proper history and characteristic skin changes of the eyelids. Histopathological examination in the early stages shows mild dermal lymphocytic infiltrate while in the late stages, elastic tissue of the lids is fragmented and decreased. A recent report described immunoglobulin A deposits in the residual elastic fibers, implying the involvement of an autoimmune mechanism.

The only effective treatment is correction by plastic surgery after the disease has run its course, otherwise subsequent attacks of lid edema may interfere with the results. Blepharochalasis may be associated with progressive enlargement of the upper lip due to enlargement of the labial salivary glands as well as thyroid swelling in Asher's syndrome. Ptosis, a common genetic defect, can be distinguished due to the normal appearance of the skin. Generalized cutis laxa and Ehlers-Danlos syndrome may have a similar appearance, but are easily distinguished due to other clinical features. We are reporting this case because of its rare occurrence and its probable relation to fever. IJDVL

Elastin gene expression in blepharochalasis.

Jan 2005

Kaneoya K, Momota Y, Hatamochi A, Matsumoto F, Arima Y, Miyachi Y, Shinkai H, Utani A.

Source

Department of Dermatology, Chiba University School of Medicine, Chiba, Japan.

Abstract

Blepharochalasis is a rare condition characterized by recurrent episodes of eyelid edema lead to an atrophic eyelid skin with fine wrinkles and peculiar bronze discoloration. A 32-year-old female presented with loose and redundant skin of the bilateral eyelids. We diagnosed her disease as blepharochalasis by clinical features and by disappearance of elastic fibers from the dermis in the biopsied specimen. Because elastic fibers diminish in the late phase of blepharochalasis, we performed RT-PCR to analyze the mRNA expression of elastin, a major component of elastic fiber. Elastin mRNA expression in the patient's cultured fibroblasts had not decreased compared with that in the control fibroblasts. This result suggests that environmental factors or other matrix components of elastic fibers may be involved in the loss of elastic fiber.

PubMed

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OMIM 10990 - BLEPHAROCHALASIS AND DOUBLE LIP

Classification

ICD-10 H02.3

ICD-9 374.34

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blepharochalasis_syndrome.txt · Last modified: 2012/10/16 14:40 (external edit)