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Referral to ophthalmology revealed multiple, waxy, skin-coloured, beaded papules on thickened, irregular eyelid margins with distichiasis, in keeping with moniliform blepharosis. Enrolment into the 100 000-genome project helped clinch the diagnosis of lipoid proteinosis. Although this case highlights the diagnostic power of genetics, it also sheds light on the importance of targeted clinical referral. When one considers the typical symptoms and signs of lipoid proteinosis, referral to a centre of rare diseases would have proven effective in not only avoiding polypharmacy but also reducing the psychological burden of several years of uncertainty must have had on our patient.<\/jats:p>","DOI":"10.1136\/bcr-2023-257108","type":"journal-article","created":{"date-parts":[[2023,11,6]],"date-time":"2023-11-06T11:15:57Z","timestamp":1699269357000},"page":"e257108","update-policy":"https:\/\/doi.org\/10.1136\/crossmarkpolicy","source":"Crossref","is-referenced-by-count":3,"title":["Lipoid proteinosis; a rare pathology, requiring multidisciplinary input"],"prefix":"10.1136","volume":"16","author":[{"ORCID":"https:\/\/orcid.org\/0000-0001-7933-4617","authenticated-orcid":false,"given":"Matthew Thomas","family":"Fenech","sequence":"first","affiliation":[{"name":"Ophthalmology, Alder Hey Children's NHS Foundation Trust, Liverpool, UK"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Damien","family":"Yeo","sequence":"additional","affiliation":[{"name":"Ophthalmology, Alder Hey Children's NHS Foundation Trust, Liverpool, UK"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"239","published-online":{"date-parts":[[2023,11,6]]},"reference":[{"key":"2025082710242995000_16.11.e257108.1","unstructured":"Keen A , Hassan I , Manaan Q , et al . 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