LP was first described by a dermatologist Urbach and an otolaryngologist Wiethe in 1929. It is caused by homozygous or compound heterozygous mutations in the ECM1 gene on chromosome 1q21.1 The gene encodes a group of glycoproteins that forms an important structural component of the basement membrane and the extracellular matrix. Until now, about 58 different pathogenic mutations in the ECM1 gene have been described with exon 6 and 7 being the most commonly involved.3–5 Mutations at both loci presumably cause abnormalities in the glycolipids or sphingolipids degradation pathway, decreased production of the fibrous collagens and overproduction of basal membrane collagens, which results in deposition of hyaline material in the skin, mucous membrane, and other organs.6–7 There is no etiological treatment for this disease.
The diversified clinical manifestations vary between individuals. Usually, the skin and upper aerodigestive tract mucosa are primarily affected. Ocular involvement can occur in different parts of the eye such as conjunctiva, sclera, cornea, trabecular meshwork, iris, lens/zonular fibers, retina, and lacrimal punctum.8–11 As a diagnostic feature, the moniliform blepharosis is found to accompany infiltration of Zeiss, Moll, and Meibomian glands and may lead to madarosis, trichiasis, and sometimes distichiasis.12,13 Surgical removal and CO2 laser therapy have been reported for the treatment of moniliform blepharosis.14,15 Hewson presented a LP case with corneal ulceration caused by trichiasis and suggested that eyelid lesions should be treated to prevent further complications.16 Nevertheless, few reports mention the corrective surgery. In our case, considering that the patient has the tendency to develop keloid scars, we decided to undertake a less invasive procedure. It turned out that the two-step technique with minimal skin excision and posterior lamellar preservation achieves good outcomes. As the disease is likely progressing, long-term follow-up is required to ascertain the surgical effectiveness.
It is likely that ophthalmologists be the first physicians to encounter various ocular manifestations of LP like trichiasis. A careful systemic examination and genetic analysis help confirm the diagnosis. Surgical intervention is indicated for major trichiasis, which can relieve the symptoms and reduce the risk of ocular surface complications.