{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,6,25]],"date-time":"2026-06-25T12:55:02Z","timestamp":1782392102750,"version":"3.54.5"},"reference-count":22,"publisher":"Hamad bin Khalifa University Press (HBKU Press)","issue":"2","license":[{"start":{"date-parts":[[2026,1,1]],"date-time":"2026-01-01T00:00:00Z","timestamp":1767225600000},"content-version":"unspecified","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":[],"published-print":{"date-parts":[[2026]]},"abstract":"<jats:title>ABSTRACT<\/jats:title>\n                  <jats:p>\n                    <jats:bold>Background:<\/jats:bold>\n                    Lipoid proteinosis (LP) is a rare autosomal recessive disorder caused by mutations in the extracellular matrix protein 1 (\n                    <jats:italic>ECM1<\/jats:italic>\n                    ) gene. Reporting index cases is important for enhancing clinical recognition and understanding phenotypic variability.\n                  <\/jats:p>\n                  <jats:p>\n                    <jats:bold>Case presentation:<\/jats:bold>\n                    A 36-year-old woman presented with bilateral pruritic eyelid papules and long-standing hoarseness. Clinical examination revealed moniliform blepharosis, oral cobblestone plaques, and a broad tongue. Neuroimaging showed symmetrical calcifications in the medial temporal lobes. Fiberoptic laryngoscopy demonstrated an infantile larynx, an uncommon finding in LP. A positive family history and parental consanguinity supported the diagnosis. The patient declined genetic testing and neurological treatment despite experiencing a seizure episode and mood disturbances. Topical and systemic corticosteroids were ineffective. She continues ophthalmology follow-up but has discontinued dermatological and genetic care.\n                  <\/jats:p>\n                  <jats:p>\n                    <jats:bold>Conclusion:<\/jats:bold>\n                    This case highlights the classic features of LP, a potentially novel laryngeal finding, and emphasizes the need for early diagnosis and multidisciplinary management to address neurological and psychosocial complications.\n                  <\/jats:p>","DOI":"10.5339\/qmj.2026.43","type":"journal-article","created":{"date-parts":[[2026,6,25]],"date-time":"2026-06-25T12:42:21Z","timestamp":1782391341000},"source":"Crossref","is-referenced-by-count":0,"title":["Lipoid proteinosis in a 36-year-old woman: An index case from Qatar"],"prefix":"10.5339","volume":"2026","author":[{"ORCID":"https:\/\/orcid.org\/0000-0003-0791-9581","authenticated-orcid":true,"given":"Engy","family":"Abdelhamed","sequence":"first","affiliation":[{"name":"Directorate of Operations, Airport Health Centre, Primary Health Care Corporation, Doha, Qatar"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-6322-4808","authenticated-orcid":true,"given":"Shajitha Thekke","family":"Veettil","sequence":"additional","affiliation":[{"name":"Directorate of Clinical Affairs, Department of Clinical Research, Primary Health Care Corporation, Doha, Qatar"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"3277","reference":[{"issue":"7:","key":"B1","series-title":"Hum Mol Genet","first-page":"833","article-title":"Lipoid proteinosis maps to 1q21 and is caused by mutations in the extracellular matrix protein 1 gene (ECM1)","volume":"11","author":"Hamada\n \nT","year":"2002","unstructured":"Hamada\n \nT\n\n, \n\nMc Lean\n \nWHI\n\n, \n\nRamsay\n \nM\n\n, \n\nAshton\n \nGHS\n\n, \n\nNanda\n \nA\n\n, \n\nJenkins\n \nT\n\n\n\n. \nLipoid proteinosis maps to 1q21 and is caused by mutations in the extracellular matrix protein 1 gene 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