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Blepharochalasis—A rare entity

  • Author(s): Brar, BK
  • Puri, Neerja
  • et al.
Main Content

Blepharochalasis—A rare entity
BK Brar MD, Neerja Puri MD
Dermatology Online Journal 14 (1): 8

Department of Dermatology & Venerology, Government Medical College, Faridkot, India. neerjaashu@rediffmail.com

Abstract

We report a case of a 9-year-old boy with blepharochalasis, who had recurrent angioedema along with wrinkling of the skin of the upper eyelids since age 5 years. The systemic examination of the patient was normal. The patient was diagnosed as a typical case of blepharochalasis. Although the normal age to develop blepharochalasis is at puberty, our patient developed it, which is rare.



Introduction

Blepharochalasis is a rare degenerative disease unique to the skin of the eyelids, clinically characterized by primary bilateral swelling followed by progressive loss of subcutaneous tissue resulting in fine wrinkling; the skin of the upper lid hangs in thin folds [1]. It is also termed ptosis atonia, ptosis adipose and dermatolysis palpebrum. However, the term blepharochalasis (Greek meaning eyelid relaxation) coined by Fuchs in 1896 seems to be the most appropriate [2]. The condition starts with recurrent attacks of bilateral lid edema in puberty; the skin of the upper lid becomes atrophic, discolored, and redundant with tortuous blood vessels. The patient often presents for ptosis from the stretching of levator palpebrae superioris muscle. Not more than a dozen cases of blepharochalasis are reported in Indian literature.

Blepharochalasis usually affects the upper eyelids bilaterally but may be unilateral and may affect lower lids. The condition is uncommon and frequently develops insidiously around the time of puberty. Many cases are sporadic but some pedigrees show autosomal dominant inheritance [3]. In this condition, after recurrent attacks of lid edema, the skin becomes atrophic, wrinkled, redundant and discolored. There may be multiple telangiectases. The eyelid swelling is painless. The etiology is obscure. Histopathology of lesional skin shows mild dermal lymphocytic infiltrate in the early stage, and decreased, fragmented elastic fibers in later stages. Deposition of IgA in residual elastic fibers can be present, implying that an autoimmune mechanism may be involved [4].


Clinical synopsis

We report a case of a 9-year-old boy who presented with a 4-year history of wrinkling of the skin of the upper eyelids. The parents said that, when the patient was age 5 years, he took bath in a river and shortly thereafter developed angioedema of the upper eyelids. After the swelling of the lids subsided, the patient's father noticed wrinkling of the skin of the upper eyelids. At age 7, the patient again developed mild swelling on his eyelids that gradually subsided, but the laxity and wrinkling of the skin increased and has since persisted (Fig. 1).


Figure 1Figure 2

Systemic examination did not reveal any abnormality. Local examination revealed lax and wrinkled skin of both upper eyelids without erythema (Fig. 2). The redundant skin folds extended over the margins of the eyelids. There was no ptosis or laxity of skin elsewhere on the body. The upper lip and thyroid were normal. There was no other associated illness and the child did not have an atopic history. No similar lesions were present on the body and there was no history of angioedema at any other site. There was no family history of angioedema. His hematological profile, urinanalysis, kidney function, liver function, thyroid function, and endocrine assays were within normal limits. There was no deficiency of C1-esterase inhibitor. The patient denied consent for biopsy. The diagnosis of blepharochalasis was based on the clinical presentation.


Discussion

Blepharochalasis is an atypical pathologic condition that appears to be a result of inflammation. Blepharochalasis is most often found in young and active patients at around age 30 years. The clinical findings of blepharochalasis include attenuation (thinning), atrophy, and drooping (ptosis) of the eyelids; this occurs after recurrent swelling of the eyelids [5]. Repeated swelling causes a stretching of the skin that frequently results in permanent skin excess and drooping lids. In essence, the typical blepharochalasis patient shows a skin surplus or a skin drooping and reduced adhesion of the eyelid skin to the underlying muscle and connective tissue; this may lead significant visual impairment even in younger and active patients. In some patients there exists a genetic predisposition toward development of blepharochalasis at an early age. Blepharochalasis is most frequently idiopathic. However in rare cases it is associated with a renal agenesis, vertebral abnormalities, or congenital heart anomaly.

The exact etiology of blepharochalasis is not known. The condition is commonly reported during puberty. The role of the endocrine system is difficult to rule out [6]. In cases in which the disease starts before age 10 the autosomal dominant inheritance plays an important role.

There are three stages of blepharochalasis. The first stage is the intermittent edematous swelling of the upper lids, which is usually misinterpreted until the permanent changes occur. The lid swelling is painless and transient; it lasts for 1-2 days with mild redness of skin resembling angioedema. This stage is termed the edema stage. In the second stage, the skin becomes discolored, reddish brown, heavily venuled, and flabby. The loose eyelid skin hangs over the lashes; the power to lift the eyelid is decreased. This stage is termed atonic-ptosis stage. In the third stage, with further progression, there is relaxation of the tissues of the orbital septum. The orbital fat drops into the relaxed eyelid, weighs down the skin in full heavy transverse folds. The palpebral fissure narrows and interferes with vision. The lacrimal gland may be pulled below the orbital margin giving the face a tired appearance [7]. This is the advanced stage and is termed ptosis adiposa.

Most reported cases present in the second stage. Although the upper eyelids are commonly involved, lower lid and unilateral involvement may be seen [8]. The disorder can be diagnosed with the characteristic history and typical skin lesions. The redundant eyelids narrow the palpebral fissure interfering with vision. In some patients corneal ulcer may develop from inturning of eyelashes [9]. The only effective treatment is correction of the deformities by plastic surgery; however, subsequent attacks of eyelid edema may interfere with surgical repair [10, 11].

The treatment of these patients is blepharoplasty. Blepharoplasty involves removal of the pseudoherniated fat pad that protrudes through a weakened orbital septum [12]. This can be accomplished through the transcutaneous or transconjunctival route. The most common approach is the transcutaneous lower eyelid blepharoplasty [13]. The advantage of this approach is that it corrects excess skin and muscle laxity; the disadvantage is increased risk of lower lid retraction. Surgery should be delayed till the disease is quiescent, because the treatment may fail and because postoperative eyelid edema may occur.


Conclusion

Blepharochalasis is a rare disorder characterized by recurrent painless edema that leads to atrophy of periorbital skin. The pathomechanism of the disease is probably immunological, with a nearly complete loss of elastic fibers. The outcome of ptosis surgery may be unpredictable because of alterations in the levator aponeurosis. Simple reattachment of the apparent edge of levator aponeuriosis may result in significant overcorrection and variations in the postoperative eyelid heights.

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