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Lipoid proteinosis; a rare pathology, requiring multidisciplinary input
Matthew Thomas Fenech1, Damien Yeo2
1Ophthalmology, Alder Hey Children's NHS Foundation Trust, Liverpool, UK fenech.mat@gmail.com.
BMJ Case Reports
|November 6, 2023
Summary
A rare genetic disorder, lipoid proteinosis, was diagnosed in a child with hoarse voice and skin lesions. Genetic testing confirmed the diagnosis, emphasizing the need for specialized care in rare diseases.
Area of Science:
- Rare genetic disorders
- Dermatology
- Rheumatology
Background:
- Early childhood presentation of hoarse voice and recurrent ulcerations.
- Persistent elevated inflammatory markers despite treatment.
Observation:
- Airway endoscopy revealed cystic changes to the vocal cord.
- Ophthalmology exam showed moniliform blepharosis with distichiasis.
Findings:
- Diagnosis of lipoid proteinosis confirmed via the 100,000 Genomes Project.
- Highlights the diagnostic utility of genetic sequencing in rare diseases.
Implications:
- Underscores the importance of targeted clinical referrals for rare conditions.
- Suggests early referral to a rare disease center can prevent polypharmacy and reduce diagnostic odyssey.
- Emphasizes the need for multidisciplinary collaboration in managing complex cases.
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