...Firdevs Dinçsoy Bir; Zehra Oya Uyguner; Birsen Karaman; Can Baykal; Nesimi Büyükbabani; Beyhan Tüysüz; Asuman Gedikbaşı; Bülent Uyanık; Güven Toksoy; Bülent Kara; Hülya Kayserili Introduction: Lipoid proteinosis (LP), a rare autosomal recessive disorder typified by generalized thickening...

... diarrhea, facial dysmorphism, hair abnormality, immunodeficiency, and skin abnormalities. Lipoid proteinosis is caused by pathogenic mutations in ECM1 gene and characterized by deposition of hyaline-like material in various tissues resulting in heterogenous clinical findings. Case Presentation: Four years...

...Linda K. Rey; Jürgen Kohlhase; Katrin Möllenhoff; Gabriele Dekomien; Jörg T. Epplen; Sabine Hoffjan Lipoid proteinosis (LP) is an autosomal recessive genodermatosis known to be caused by mutations in ECM1 . Nonsense and missense mutations are the most common variations in LP. Up to date, only 6...