From the Department of Ophthalmology (MKY, MMB, TJM), University of California–San Francisco; and Pacific Eye Associates (TNH), California Pacific Medical Center, San Francisco, California.
The authors have no financial or proprietary interest in the materials presented herein.
Address correspondence to Timothy J. McCulley, MD, University of California–San Francisco, Department of Ophthalmology, 10 Koret Way, K-301, San Francisco, CA 94143-0730.
Linear scleroderma is the predominant subtype of localized scleroderma occurring in children. When the unilateral band-like skin lesion affects the face or scalp, resembling a saber cut, the condition is referred to as linear scleroderma “en coup de sabre” (LSCS). Disease onset typically occurs during the first two decades of life with an initial inflammatory phase followed by skin atrophy and spontaneous regression several years later. LSCS can cause abnormal facial development and subsequent disfigurement if underlying muscle and bone are affected.1 Ophthalmologic involvement has been known to occur, with reports of ptosis, enophthalmos, extraocular muscle paralysis, eyelash loss, corneal abnormalities, anterior uveitis, iris atrophy, heterochromia, and pupillary mydriasis.2–10 In the literature, cases of LSCS and ptosis are typically associated with sclerodermal lesions located at or near the affected eye (eg, temple or at or near the eyelid).6–10 We describe a unique case of a young child presenting with acquired blepharoptosis and a scalp lesion consistent with LSCS that was distant from the affected eye, without periorbital or facial involvement.
A 4-year-old girl was seen at a Guam eye clinic in 2005 for acquired ptosis of the left upper eyelid. Family photographs documented normal-sized palpebral fissures at age 6 months (Fig. 1A). There was no prior history of ocular trauma or surgery. The ptosis progressed over the following year to completely occlude the pupil with the development of mild amblyopia. Her medical history also included a quarter-sized area of alopecia at the crown of her head that was initially treated with a topical steroid cream but continued to lengthen toward the left frontoparietal scalp. At 5 years of age, the patient underwent an unsuccessful left levator palpebrae muscle resection, prompting referral to our facility.
Figure 1. (A) Normal Eyelid Position at 6 Months of Age. (B) Patient at Age 6 Years with Acquired Left Upper Eyelid Ptosis. (C) The Same Patient Following Frontalis Sling Placement.
On examination, visual acuity was 20/30 in the right eye and 20/40 in the left eye. The margin to reflex distance was measured at −1.0 mm in the involved left eye compared to 4.0 mm in the fellow eye (Fig. 1B). Levator function was reduced to approximately 6 mm in the involved eye. The eyelid and other external periorbital structures showed no detectable atrophy or scarring except the previous eyelid crease incision. There was no afferent pupillary defect. Motility was entirely full and she was orthophoric in all fields of gaze. The remainder of the ophthalmic examination including visual field testing, slit-lamp examination, and funduscopic evaluation was normal.
Additional findings included an elongated crescent-shaped patch of alopecia along the left parietal scalp culminating at the vertex (Fig. 2A) without extension to the hairline, forehead, or periocular areas. Additionally, her fingers were tapered and the overlying skin was somewhat shiny and taut (Fig. 2B) but range of motion remained full. Laboratory evaluation for thyroid disorder and myasthenia gravis was negative. Magnetic resonance imaging of the brain and the orbits was normal. Skin atrophy with normal underlying bone was seen on computed tomography in the region of the scalp lesion (Fig. 2C).
Figure 2. (A) Band-Like Region of Atrophic Skin and Alopecia Extending from the Vertex to the Parietal Scalp. (B) Tapered Fingertips with Overlying Shiny, Taut Skin. (C) Computed Tomography Demonstrating Atrophy of the Skin and Underlying Soft Tissue Without Bony Involvement. (D) Levator Muscle Biopsy (hematoxylin–Eosin, Original Magnification ×100) Demonstrating Chronic Inflammation and Sclerosis.
A frontalis sling procedure was performed with biopsies of the levator palpebrae muscle and scalp lesion. The levator palpebrae muscle biopsy revealed muscle atrophy and chronic inflammation. Biopsy of the scalp lesion demonstrated dermal sclerosis without active inflammation (Fig. 2D). This is a nonspecific finding, but is consistent with chronic, currently inactive linear scleroderma. With no clinical evidence of progressive disease, immune suppression therapy was not recommended. One week following frontalis sling placement (Fig. 1C), the patient returned to Guam. She has not returned for further follow-up.
Skin lesions of LSCS are characterized by initial inflammation followed by sclerosis and finally atrophy of the skin. Involvement of the underlying muscle, bone, or both is not uncommon. There have been several cases of lesions in the periocular area affecting the extraocular muscles and the levator muscle, resulting in ptosis. In the current case, the presenting feature was new left upper eyelid ptosis with an otherwise normal ophthalmologic examination. In the context of the patient’s clinical presentation and scalp lesion, the levator palpebrae biopsy findings of inflammation and sclerosis were consistent with a diagnosis of linear scleroderma. The sclerodermal lesion did not reach the hairline, nor was there any manifestation of linear sclerosis on the forehead or periorbital or facial areas.
There have been numerous cases of LSCS with ptosis; however, they all occurred in conjunction with lesions in close proximity to the affected eye.5–9 The most similar case to the one presented in this report that we were able to find was one published by Ramboer et al. in 1997.10 They described a young woman with enophthalmos that was associated with a sclerotic scalp lesion without extension to the forehead. To our knowledge, our patient is the first case of LSCS-associated blepharoptosis without external signs of sclerodermal involvement in the periorbital, forehead, or facial areas.
Although the underlying etiology of LSCS remains unclear, it is thought that it manifests along the lines of Blaschko, which are lines corresponding to channels of embryonic cell migration during early development.11 Blaschko’s lines along the scalp are still not fully understood. They are thought to follow a spiral pattern on the scalp that terminates on the vertex of the head.12 One recent case of atypical LSCS described a young woman with an egg-shaped sclerodermal lesion at the scalp vertex that progressively extended to the left frontoparietal region, which corresponds to Blaschko’s lines of the scalp.13 Our patient’s sclerodermal lesion had a similar location and pattern of progressive extension, also supporting the 2001 model of Blaschko’s lines of the scalp.
The ptosis of our patient was managed successfully with placement of a frontalis sling. The “levator function” was measured at 6 mm, which for many surgeons is considered the cutoff for levator advancement surgery. A frontalis sling was performed primarily due to the likelihood that it would continue to be effective even in the setting of progressive levator muscle weakness. Moreover, levator advancement surgery had been unsuccessful when performed at an outside facility.
This is the first report to date of a patient with LSCS-related upper eyelid ptosis who presented with only a remote, hidden sclerodermal lesion at the vertex of the scalp. This distribution of LSCS is consistent with the latest model of Blaschko’s lines along the head and scalp. Our case underscores the importance of inquiring about skin lesions and areas of alopecia in cases of acquired ptosis in children even when facial lesions are absent.
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