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Blepharochalasis Syndrome

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Blepharochalasis Syndrome OCULOPLASTICS OPHTHALMIC PEARLS Blepharochalasis Syndrome lepharochalasis syndrome was Pathologic findings.Case reports 1A first described by G.J. Beer involving histologic examination of in an 1817 textbook and was eyelid tissue have suggested that lym- B 1 named by Ernst Fuchs in 1896. It is phocytic infiltration of the dermis and a condition of the eyelids consisting loss of elastic fibers might be charac- of episodic inflammation and chronic teristic findings. Loss of collagen in the skin changes. It is usually bilateral and dermis has also been reported, and the 1B tends to manifest in the upper eyelids, size and number of capillaries may be although unilateral cases as well as increased. those affecting the lower eyelids exclu- Immunohistochemical analysis of sively have also been reported. excised eyelid skin was also positive for Little is known about the epide- matrix metalloproteinases (MMP)-3 1C miology of this disorder, as most of and -9 in one study.3 Another study our current knowledge comes from demonstrated the presence of IgA published case reports. According to a around atrophic elastic fibers.4 These review published in 2009, the average findings suggest that there may be a age of onset is around 11 years old.2 It concomitant inflammatory process ac- is suspected that this condition occurs companying the extravasation of fluid with similar frequency in males and and localized edema occurring at the females; however, more cases have been capillary level. reported in females to date. Systemic associations. No clear sys- BEFORE AND AFTER. (1A) 26-year-old temic associations are known. However, man with blepharochalasis. Bronze de- Etiology a link has been suggested to Ascher posits are present bilaterally on the up- There are multiple theories regard- syndrome. In that rare condition, the per eyelids, accompanied by asymmet- ing the etiology of blepharochalasis. upper eyelids and lips become swollen, ric swelling. (1B) Same patient 1 week Unlike dermatochalasis, which is often sometimes in conjunction with euthy- after bilateral upper blepharoplasty. the competing diagnosis and is an roid goiter. (1C) H&E stain of right upper eyelid tis- involutional change to the eyelid skin, sue excised during the procedure. There blepharochalasis is thought to be a Signs and Symptoms is no evidence of active inflammation, manifestation of angioneurotic edema. Patients will often complain of episod- which may indicate disease quiescence Puberty and hormonal changes may ic, painless eyelid swelling. Erythema is and ideal timing for surgery. play a modulatory role in the disease. sometimes present. Flares usually last 2 Attacks have also been reported to fol- to 3 days and may occur several times a becomes atrophic over time, sometimes low bee stings, crying, physical activity, year. The frequency of attacks typically within less than a decade after onset wind exposure, or stressful events.2 In dwindles as the patient ages, with the of the disease. This often makes young most cases, however, no trigger can be peak of disease activity occurring in the patients appear much older than their identified. teenage years. The skin stretches and actual age. Classic findings on physical exam- ination include “cigarette paper” skin BY MERON HAILE, MD, AND RONA Z. SILKISS, MD. EDITED BY SHARON that appears thin and finely wrinkled, Meron Haile, MD Haile, Meron FEKRAT, MD, AND INGRID U. SCOTT, MD, MPH. edema (which may be asymmetric), EYENET MAGAZINE • 45 bronze deposits, subcutaneous telan- 2A 2B vative when excising prolapsed orbital giectasia, lid laxity and malposition fat, given that fat atrophy is part of the (including entropion and ectropion), natural history of this disease. proptosis, orbital fat and lacrimal gland It is also important to note that prolapse, and a pseudoepicanthal fold. ptosis repair in these patients tends Firm palpation of the affected eyelid 2C 2D to yield a high rate of overcorrection. generally does not cause pitting. Therefore, the surgeon caring for a Staging. Stages of this disease have blepharochalasis patient may consider been described, and the presence or undercorrection in his or her surgical absence of some aforementioned find- approach and plan. If lateral canthal ings may help differentiate among these IMMUNOHISTOCHEMISTRY. IHC analy- tendon laxity requiring repair is pres- stages. During the earlier active phase, sis is negative for IgG (2A) and MMP-2 ent, it should be corrected before the nonpitting edema of the eyelids is most (2B), but shows positive staining for ptosis is repaired, as there is a risk of prominent. This phase may be further MMP-3 (2C) and MMP-9 (2D). “temporal peaking” when the aponeu- subdivided into hypertrophic and rosis is advanced.2 atrophic variants. In the hypertrophic be checked in order to differentiate variant, weakness of the orbital septum between blepharochalasis and heredi- Prognosis allows orbital fat to prolapse forward, tary angioedema, as these levels should Because surgical interventions cannot giving the orbit a fuller appearance. In be low in the latter but not the former.2 address the underlying pathophysiol- the atrophic variant, the globes may Although biopsies of eyelid skin to look ogy of the disease, many of the com- appear more hollow due to fat atrophy. for the aforementioned histologic and plications such as ptosis and drooping During the late phase, the lids become immunohistochemical findings may be eyelid skin may recur after surgical lax and thin; and the disease may be helpful in establishing a diagnosis, they correction. This is especially the case if called quiescent when no flares have are not part of any diagnostic criteria; patients had surgery before the disease occurred for 2 or more years.1 moreover, biopsied tissue may appear became quiescent.7 normal in some patients. Some case reports have document- Differential Diagnosis ed recurrence of ptosis after only a Blepharochalasis can easily be mistaken Complications few years in patients who underwent for dermatochalasis. The important Eyelid skin laxity; ptosis, usually sec- surgical correction early in their sec- distinguishing features of blepharocha- ondary to levator dehiscence but with ond decade. It is recommended that lasis include subcutaneous telangiecta- preserved levator function; herniation surgeons defer these interventions until sia, episodic edema, and cigarette paper of the orbital lobe of the lacrimal the patient has been free of flares for skin, which are absent in dermatocha- gland; prominent eyelid vascularity; 6 months to a year.1,2 These patients lasis. Also, in contrast to patients with and orbital fat pad atrophy have been should be counseled appropriately so blepharochalasis, who generally begin reported.1 that they understand the limitations to have symptoms in childhood or ado- of surgery and the potential need for lescence, patients with dermatochalasis Treatment additional surgeries in the future. usually note eyelid laxity beginning at There are no standardized treatment around the fourth decade. protocols for blepharochalasis. 1 Kotlus BS et al. Blepharochalasis syndrome. Other diagnoses to consider include Medical. Systemic and topical http://emedicine.medscape.com/article/ floppy eyelid syndrome (especially in steroids, antihistamines, and anti- 1214014-overview#a9. Accessed July 8, 2016. overweight males with obstructive sleep inflammatory medications do not 2 Koursh DM et al. Surv Ophthalmol. 2009; apnea), thyroid eye disease, orbital appear to be effective in treating flares 54(2):235-244. inflammatory disease, dacryoadenitis, or in changing the overall course of 3 Motegi S et al. J Dermatol. 2014;41(6):536-538. hereditary angioedema, and lacri- the disease. Some case reports have 4 Grasseger A et al. Br J Dermatol. 1996; mal gland tumor. Contact dermatitis suggested that oral doxycycline or oral 135(5):791-795. should be considered when erythema acetazolamide combined with topical 5 Karaconji T et al. Ophthal Plast Reconstr is coupled with pruritus, as the latter is hydrocortisone may be promising op- Surg. 2012;28(3):e76-78. not usually associated with blepharo- tions, but these drugs have not yet been 6 Lazaridou MN et al. Clin Ophthalmol. 2007; chalasis. studied in clinical trials as treatments 1(3):331-333. for blepharochalasis.5,6 7 BCSC Section 7: Orbit, Eyelids, and Lacrimal 2014;41(6):536-538. 2014;41(6):536-538. Diagnosis Surgical. Surgical options for the System. San Francisco: AAO; 2014. Blepharochalasis is a clinical diagno- complications discussed above include sis based on history and examination blepharoplasty, levator aponeurosis Dr. Haile is an ophthalmology resident, and J Dermatol. findings. No diagnostic laboratory dehiscence repair, eyelid tightening, Dr. Silkiss is chief of oculoplastics; both are at tests are currently available. Serum canthal tendon reattachment, and fat California Pacific Medical Center, San Francisco. C1 inhibitor levels and activity may grafting. Surgeons should be conser- Relevant financial disclosures: None. S et al. Motegi 46 • SEPTEMBER 2016.
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