Background: Lipoid proteinosis (LP) is a rare multisystem inherited disease. We report here in three LP cases with beaded papules of the eyelid. Their clinical presentations, histological characteristics, and genetic findings are described and discussed.
Case presentation: A 12-year-old boy reported to our hospital with a complaint of ocular irritation, redness, and tearing for two years. He had a history of hoarseness since childhood. His younger brother (5 years old) also complained of hoarseness. Another patient, a 26-year-old woman, described many beaded papules on the edge of her eyelids since age 11 years. She additionally reported hoarseness since 4 years of age. Careful slit-lamp examination in these cases revealed waxy beaded papules on the margins of both eyelids and mild conjunctival congestion. Physical examination showed irregular, rugged scars on their facial skin. Genetic analysis showed the mutation located in exon 6 of the ECM1 gene.
Conclusions: Three LP cases first diagnosed by ophthalmologists are presented. The presence of eyelid papules should prompt the ophthalmologist to pay close attention to the patient's voice. If there is a definite history of hoarseness, these patients should undergo gene sequence analysis. If necessary, otorhinolaryngology and dermatology consults may help confirm the diagnosis. Treatment is primarily symptomatic to improve patients' quality of life.
Keywords: Case report; Extracellular matrix gene 1; Eyelid disease; Lipoid proteinosis.