• Pak J Med Sci · Jul 2023

    Case Reports

    Lipoid Proteinosis: Identification of a Novel Nonsense Mutation c.1246C>T:p.R416X in ECM1 gene from Bangladesh.

    • Md Azraf Hossain Khan, Md Abu Reza, Ibrahim Md Sharaf, Md Jahangir Alam, Md Mostafizur Rahman, Pampa Chandra, Kazi Selim Anwar, and Md Abdus Salam.
    • Prof. Md. Azraf Hossain Khan, DDV, MCPS Department of Dermatology & Venereology, Rajshahi Medical College Hospital, Rajshahi, Bangladesh.
    • Pak J Med Sci. 2023 Jul 1; 39 (4): 121212151212-1215.

    AbstractLipoid proteinosis is a rare multisystem genodermatosis inherited as autosomal recessive trait. We report a case of lipoid proteinosis in a 10-year-old boy born to first-degree consanguineous parents presented with marked hoarseness of voice, accelerated photoaging appearance, enlarged and erythematous tongue with restricted movement and widespread dermatoses. Biopsy of oral mucosa revealed Periodic acid-Schiff (PAS)-positive amorphous eosinophilic hyaline deposits. Mutational analysis revealed a homozygous nonsense mutation with C to T substitution at nucleotide position 1246(c.1246C>T) in exon-8 of the extracellular matrix protein 1 gene leading to a stop codon. Both the parents were unaffected heterozygous carriers. To our knowledge, this is the first case report of lipoid proteinosis with evidence of a novel nonsense genetic mutation from Bangladesh.Copyright: © Pakistan Journal of Medical Sciences.

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