Blepharochalasis Syndrome

Updated: Mar 23, 2015
  • Author: Brett S Kotlus, MD, MS; Chief Editor: Hampton Roy, Sr, MD  more...
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Overview

Problem

Blepharochalasis is a rare syndrome consisting of recurrent bouts of upper eyelid edema associated with thinning, stretching, and fine wrinkling of the involved skin. The lower eyelids are not commonly involved. These episodes often result in eyelid skin redundancy. In 1817, Beer initially described the condition; however, in 1896, Fuchs first assigned the term blepharochalasis to this entity. [1] The word blepharochalasis originates from the Greek blepharon (eyelid) and chalasis (a relaxing). [2, 3, 4]

See the images below.

Bilateral lacrimal gland prolapse in the quiescent Bilateral lacrimal gland prolapse in the quiescent stage of blepharochalasis syndrome. Courtesy of Kathleen Duerksen, MD.
Upper and lower eyelid edema in blepharochalasis s Upper and lower eyelid edema in blepharochalasis syndrome. Notice the left pseudoepicanthal fold. Courtesy of Kathleen Duerksen, MD.

Various disease stages have been observed. In 1926, Benedict described a swelling stage and a subsequent stage characterized by thinning skin. [5] Others have suggested an active, intumescent phase that precedes a quiescent, atrophic phase.

Blepharochalasis is often confused with dermatochalasis, which refers to the lax and redundant skin most commonly observed in the upper eyelids with aging. However, dermatochalasis is usually not associated with recurrent attacks of edema, “cigarette-paper” skin, and subcutaneous telangiectasia, as observed in blepharochalasis.

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Epidemiology

Frequency

Blepharochalasis is an uncommon disorder with a typical initial presentation in adolescence or young adulthood and no clear gender predilection. The intermittent attacks occur less commonly as the person ages.

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Etiology

While the exact cause of this syndrome is unknown, several associations have been noted. A relationship with Ascher syndrome, consisting of upper lip edema and nontoxic thyroid enlargement, has been suggested. One case of blepharochalasis associated with dermatomyositis and lymphocytic leukemia has been reported. 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.

Tissue biopsy in an affected patient has revealed the presence of matrix metalloproteinase, indicating a potential immune mechanism. [6]

A hereditary form of the disease may exist; Panneton observed varying degrees of the syndrome in many members of a large family. [7] Autosomal dominance with incomplete penetrance and variable expressivity is possible.

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Pathophysiology

Blepharochalasis may be a form of chronic angioedema with localized vascular dilation and proteinaceous fluid extravasation. An orbital component has been suggested because, in patients with the syndrome, orbital fat has been noted to contain increased vascularity with dilated capillaries. Multiple triggers have been described, including immune reactions and environmental factors. [8]

The finding of immunoglobulin A (IgA) deposits in lesional skin has implicated immunopathogenic causes. Elevated immunoglobulin E (IgE) levels in one case report supports the involvement of atopy in blepharochalasis. Perivascular infiltrates in patients with active disease, along with degradation of both elastin and collagen in the dermis, suggest inflammatory influences. Elastin messenger RNA (mRNA) expression has been shown to be normal compared to controls, indicating an environmental cause of breakdown, such as postinflammatory enzymatic action.

Matrix metalloproteinase 3 (MMP-3) and MMP-9 may play a role in the development of this disease.

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Presentation

Patients report repeated episodes of painless swelling of one or both eyelids with subsequent thinning of eyelid skin, typically starting at approximately age 10–20 years. Edema is almost always observed initially in the upper eyelids. Most cases occur bilaterally, but unilateral instances have been reported. The frequency of attacks is widely variable. A preceding period of physical or emotional stress may be reported. A history of allergy is occasionally elicited.

Physical

In the early active phase, patients present with nonerythematous edema of one or both upper eyelids. Patients rarely (and only in severe cases) present with 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.

Sequelae of the active phase of the disease characterize the atrophic phase of blepharochalasis. These sequelae include the following:

  • Severe thinning of eyelid skin (iris may be visible through the eyelid skin)
  • Fine wrinkling of the eyelid skin (cigarette-paper skin)
  • Stretched, redundant eyelid skin, occasionally causing visual obstruction
  • Subcutaneous telangiectasia
  • Pigmentary skin changes (bronze deposits)
  • Upper blepharoptosis with levator aponeurosis dehiscence
  • Eyelid malposition ( ectropion or entropion)
  • Acquired blepharophimosis due to canthal tendon dehiscence
  • Medial fat pad atrophy with pseudoepicanthal folds
  • Orbital fat prolapse
  • Lacrimal gland prolapse

Differential Diagnosis

Consider the following entities in the differential diagnosis of blepharochalasis syndrome:

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Indications

Surgery is primarily indicated for correction of sequelae in those who have achieved a stable course later in the disease. Corrective procedures may include levator aponeurosis dehiscence repair, canthal tendon reattachment, eyelid tightening, blepharoplasty, and fat grafting.

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Relevant Anatomy

The eyelid skin is extremely thin and distensible, which may promote vulnerability to further thinning and wrinkling after an episode of severe edema. The levator aponeurosis, the tendonous continuation of the levator palpebrae superioris muscle, attaches to the anterior surface of the tarsus in the upper eyelid. This structure may similarly undergo thinning and stretching during edematous attacks, leading to aponeurotic upper blepharoptosis. Likewise, stretching of the orbital septum allows prolapse of the tissues behind (including orbital fat and lacrimal gland).

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Contraindications

Those experiencing active episodes of edema should not undergo surgery. Surgical candidates should have displayed at least 6 months of quiescence.Systemic steroids, topical steroids, antihistamines, and anti-inflammatory agents have not been shown to alter the course of the disease or to alleviate the symptoms associated with acute episodes.

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