Intra-Familial Phenotypic Variability in Lipoid Proteinosis: A Case Series of Three Siblings.
Lipoid proteinosis (LP), or Urbach-Wiethe disease, is an ultra-rare autosomal-recessive disorder caused by loss-of-function variants in the ECM1 gene. It is characterized by the progressive deposition of hyaline-like material in the skin, mucosae, and central nervous system. This series describes th...
| Publicado en: | Clinical Medicine Insights: Case Reports Vol. 19; pp. 1 - 12 |
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| Autores principales: | , , , , |
| Formato: | case study pictorial Journal Article |
| Publicado: |
Sage Publications Inc.
6/25/2026
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| Acceso en línea: | Ver este registro en EBSCOhost |
| fields | @attributes: recordID: 1 pdfLink: plink: https://search.ebscohost.com/login.aspx?direct=true&db=ccm&AN=194895284&site=ehost-live header: @attributes: shortDbName: ccm uiTerm: 194895284 longDbName: CINAHL Complete uiTag: AN controlInfo: bkinfo: dissinfo: jinfo: jid: 11795476 B3KM jtl: Clinical Medicine Insights: Case Reports issn: 11795476 maglogo: Y pubinfo: dt: 6/25/2026 vid: 19 pid: 344 pub: Sage Publications Inc. place: Thousand Oaks, California artinfo: ui: 194895284 194895284 194895284 10.1177/11795476261465037 194895284 ppf: 1 ppct: 11 formats: fmt: – @attributes: type: T – @attributes: type: P tig: atl: Intra-Familial Phenotypic Variability in Lipoid Proteinosis: A Case Series of Three Siblings. aug: au: Murtaza, Muhammad Zafar, Insharah Mubashar, Bareea Samadi, Abedin Raza, Ahmed Asad affil: Department of Medicine, Services Institute of Medical Sciences, Lahore, Pakistan sug: subj: Skin Diseases, Genetic Diagnosis Phenotype Extracellular Matrix Proteins Skin Diseases, Genetic Familial and Genetic Case Studies Adolescence Adult Hoarseness Skin Diseases, Vesiculobullous Eyelid Diseases Frenum (Oral) Genetics Male Female Adolescent: 13-18 years Adult: 19-44 years Male Female ab: Lipoid proteinosis (LP), or Urbach-Wiethe disease, is an ultra-rare autosomal-recessive disorder caused by loss-of-function variants in the ECM1 gene. It is characterized by the progressive deposition of hyaline-like material in the skin, mucosae, and central nervous system. This series describes three siblings (aged 16, 24, and 25) from Gujranwala, Pakistan, born to non-consanguineous parents. All patients presented with infant-onset hoarseness of voice and recurrent vesiculobullous eruptions that evolved into waxy papules and hyperkeratotic plaques. Physical examination revealed the pathognomonic "beaded" eyelid papules (moniliform blepharosis), pock-like facial scarring, and a thickened lingual frenulum restricting tongue protrusion. Despite shared genetics, intrafamilial variability was observed, with the male sibling exhibiting a more severe "leonine-like" facies. Neuropsychiatric symptoms, including aggression and insomnia, were noted across the series. Due to resource constraints, the diagnosis was established clinically. Management focused on symptomatic control using oral acitretin (0.5 mg/kg/day), antihistamines, and intensive topical emollients. At 12-week follow-up, patients showed significant reduction in pruritus and stabilization of skin lesions, though hoarseness and established scarring remained unchanged. This series underscores the importance of recognizing cardinal clinical triads—moniliform blepharosis, mucosal tethering, and early hoarseness—to diagnose LP in resource-limited settings where genetic or histological confirmation is unavailable. pubtype: Academic Journal doctype: case study pictorial Journal Article ougenre: Article language: English refInfo: holdings: @attributes: islocal: N |
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