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Recurrent Vascularizing Keratitis in Infants With Hereditary Mucoepithelial Dysplasia Related to SREBF1 Mutation
Seonghwan Kim1, Hyunchul Jeong1, Jung Min Ko2
1Department of Ophthalmology, Seoul National University College of Medicine, Seoul, Korea.
Insights
Hereditary mucoepithelial dysplasia (HMD) in infants can cause severe eye issues like vascularizing keratitis and scalp hair loss. Genetic testing for SREBF1 mutations is crucial for early diagnosis and management.
Area of Science:
- Ophthalmology
- Genetics
- Dermatology
Background:
- Hereditary mucoepithelial dysplasia (HMD) is a rare genetic disorder.
- Ophthalmic and dermatologic manifestations can be severe and present early in life.
Purpose of the Study:
- To describe the ophthalmic manifestations of HMD in two infants with an SREBF1 gene mutation.
- To highlight the clinical course and diagnostic approach over a 5-year period.
Main Methods:
- Evaluation of two female infants presenting with photophobia and alopecia.
- Comprehensive ocular examinations under anesthesia, genetic analysis (whole-exome sequencing), and systemic workup.
- Identification of a pathogenic SREBF1 variant (c.1669C>T, p.Arg557Cys).
Main Results:
- Both patients developed bilateral vascularizing keratitis with stromal leucomatous opacity.
- Keratitis showed partial response to corticosteroids but fluctuated over 5 years.
- Cyclical hair loss leading to diffuse scalp alopecia was observed; systemic evaluations were normal.
Conclusions:
- HMD should be considered in pediatric cases of recurrent vascularizing keratitis and early-onset alopecia.
- Genetic testing for SREBF1 mutations is recommended.
- Multidisciplinary collaboration involving ophthalmologists, dermatologists, and pediatricians is essential for diagnosis.
Purpose:
This study aims to present ophthalmic manifestations of 2 infants with hereditary mucoepithelial dysplasia (HMD) related to SREBF1 mutation over a 5-year period.
Methods:
Two female infants with an unremarkable perinatal history were evaluated for photophobia that had been manifest since 3 months after birth and diffuse scalp alopecia. Complete ocular examinations under anesthesia were performed, as well as genetic and systemic workup.
Results:
Both patients had vascularizing keratitis in both eyes, characterized by the growth of corneal new vessels from the 360 degrees periphery to the center and the formation of stromal leucomatous opacity at the leading edge. The keratitis partially regressed in response to topical corticosteroids and waxed and waned during the 5 years of follow-up. In addition, the loss of scalp hair developed in a cyclical pattern, causing diffuse scalp alopecia in the patients. Rheumatologic, nutritional, and developmental evaluations were within normal ranges. Whole-exome sequencing identified a heterozygous c.1669C>T (p.Arg557Cys) pathogenic variant in the SREBF1 gene associated with HMD in both patients.
Conclusions:
In pediatric patients with recurrent vascularizing keratitis and diffuse scalp alopecia starting early in life, HMD should be considered, and genetic tests and collaboration with dermatologists and pediatricians on the diagnosis should be provided.
