Blepharochalasis

Blepharochalasis is an inflammation of the eyelid that is characterized by exacerbations and remissions of eyelid edema, which results in a stretching and subsequent atrophy of the eyelid tissue, leading to the formation of redundant folds over lid margins. It typically affects only the upper eyelids, and may be                                                unilateral as well as bilateral.

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 1896; Fuchs first assigned the term blepharochalasis to this entity. The word blepharochalsis originates from the Greek blepharon (eyelid) and chalasis (a relaxing).

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.

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 the dermatomyositis and lymphocytic leukemia has been reported. Others have proposed that blepharochalasis is exacerbated by hormonal influences, menstrual cycles, upper respiratory tract infections, and allergies. In several individuals systemic abnormalities have been found. Tissue biopsies in an affected patient have revealed the presence of metrix metalloproteinase, indicating a potential immune mechanism. A hereditary form of the disease may exist, panneton observed varying degrees of the syndrome in many members of a large family. Autosomal dominance with incomplete pen trance and variable expressivity is possible.

Blepharochalasis may be a form of chronic angioedema with localized vascular dilation and proteinaceous fluid extravasations. An orbital fat has been noted to contain increased vascularity with dilated capillaries. Multiple triggers have been described, including immune reactions and environmental factors.

The finding of immunoglobulin A(IgA) deposits in lesional skin has implicated.Immunophathogenic  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 expression has been shown to be normal compared to controls, indicating an environmental cause of breakdown, such as post inflammatory enzymatic action. Patients report repeated episodes of painless swelling of one or both eyelids with subsequent thinning of eyelid skin, typically starting at approximately age 10 to 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. 

In the early active phase, patients present with nonerythematous edema of one or both upper eyelids. Patients rarely present with nonerythematous edema of lower eyelids. Thinning of eyelid skin may be present in the active stage of the diseases. Other physical finding include proptosis, blephroptosis, blephrophimosis, conjuctival injection, and eyelid malposition. Sequelae of active phase of the disease characterize the atrophic phase of blepharochalasis. These sequelae include severe thinning of eyelid skin (iris may be visible through the eyelid skin), fine wrinkling of the eyelid skin, stretched and redundant eyelid skin, occasionally causing visual obstruction, subcutaneous telangiectasia , pigmentary skin changes, upper blepharotosis with levator aponeurosis dehiscence, eyelid malposition, acquired blepharophimosis due to canthal tendon dehiscence, medial fat pad atrophy with pseudoepicanthal folds, orbital fat prolapse, lacrimal gland prolapse. Differential diagnosis of blepharochalasis syndrome are dermatochalasis, hereditary angioedema, idiopathic orbital inflammation, thyroid associated opthalmopathy, orbital cellulitis, cavernous sinus thrombosis, dacryoadenitis, lacrimal gland tumor, orbital hemangioma, lymphoma, sarcoidosis, amloidosis, localized cutis laxa, floppy eyelid syndrome, contact dermatitis. Surgery is primarily indicated for correction of sequelae in those who have achieved stable course later in the disease. Corrective procedure may include levator aponeurosis dehiscence repair, canthal tendon reattachment, eyelid tightening, blepharoplasty and fat grafting.