Statistics from Altmetric.com
Editor,—Urbach–Wiethe syndrome is a rare autosomal recessive disorder associated with hyaline-like deposits in the skin and pharyngolaryngeal mucous membranes causing dysphonia and hoarseness.1 2 Ocular manifestations include deposits along the free edges of the eyelids (moniliform blepharosis), conjunctiva, cornea, trabeculum, and Bruch’s membrane.3 4 We used carbon dioxide laser as a new surgical method to alleviate the papular lesion from the eyelids.
A 21-year-old Bedouin woman was referred to our centre for ophthalmic examination. Although a negative family history of Urbach–Wiethe syndrome was known, the patient and her brother suffered from this disorder.
The patient complained of yellowish papular lesions that occupied the entire lid margin of the upper two lids. She suffered from hoarseness caused by papules situated on the vocal cord and hyperkeratotic nodules on the skin.
Ophthalmic examination revealed numerous yellowish lesions along the lid margin of the upper and the lower lids. Her best corrected visual acuity was 6/6 in both eyes. Slit-lamp examination did not reveal any lesions in the conjunctiva and cornea. Intraocular pressure was normal. Fundus examination did not disclose any posterior segment abnormalities. Haematological investigation did not yield any high levels of serum proteins and lipids.
Light microscopy examination of the eyelid biopsy show pathological alterations diagnostic of lipoid proteinosis. The lesion is papillomatous with epidermal hyperkeratosis and atrophic changes. The dermis is considerably thickened and consists in its upper portion of diffused homogeneous hyaline material which stains a pale pink with haematoxylin and eosin (Fig 1). The hyaline material is periodic acid Schiff positive and diastase resistant indicating the presence of neutral mucopolysaccharides. Lipid stain oil red O and amyloid stain Congo red give negative results.
The LX-20SP carbon dioxide laser (Luxar) was used to perform the laser procedure. Under local anaesthesia, all eyelid deposits at the lid margin and the eyelashes were shaved using a 0.2 mm spot size with 1–2 W of power in the continuous mode. To ensure safety during the procedure, impenetrable corneal shields were used to protect the eyes. The eyelashes and the papules were evaporated and no bleeding occurred. At the first week postoperatively, mild bruising, swelling, and regeneration of eyelashes were noticed. The patient reported no tenderness, aching, or any other discomfort. Two months later, the eyelashes had regenerated completely and the lid margins were smooth without any papules.
Urbach–Wiethe syndrome is a rare autosomal recessive disorder. The aetiology is still unknown. Some authors think that this disease is caused by a systemic disorder of increased serum levels of lipids and proteins, or an anomaly of the carbohydrate metabolism. In contrast, others assume that it is a primary connective tissue disorder.
The ophthalmic manifestations are characteristic in this disease. The involvement of the eyelids is pathognomonic and frequent. Hyaline-like deposits are located along the free margins of the palpebrals, the Zeis, Moll, and Meibomian glands causing dystrichiasis. Some deposits were noticed in the conjunctiva and cornea (Descemet’s membrane). In the trabeculum they cause secondary glaucoma. Also, hyaline-like infiltrates can be found in the retina (Bruch’s membrane).
Carbon dioxide laser has a wavelength of 10 600 nm. Clinically, this is advantageous because this energy is non-ionising and thus should not predispose treated skin to carcinomas or other problems associated with ionising radiation. It is highly absorbed by water, the major component of soft tissue.5 Therefore, its absorption length in the skin is about 0.02 mm, making it a useful wavelength for cutaneous surgery.6 The safety and efficacy of carbon dioxide laser is well documented in blepharoplasty7 8 and benign dermal tumours.9 10 We suggest the use of carbon dioxide laser in lipoid proteinosis as a new surgical treatment to alleviate the patient’s suffering from cosmetic defects of the eyelids.