title: Severe short stature: an unusual finding in lipoid proteinosis.
abstract: Lipoid proteinosis (LP) is a rare disorder and it can affect every organ in the body. The clinical manifestations of LP may vary considerably between affected individuals. Short stature is reported in patients with LP however the underlying etiology is not clear. Short stature may be due to endocrine dysfunction caused by deposition of hyaline-like material in endocrine glands. We investigated a 13 year old patient with LP (507 delT mutation) who had severe short stature. He had hoarseness since the age of one year, followed by characteristic skin lesions for LP and short stature. There was no pathology with respect to endocrinological investigations in our patient including growth hormone-IGF axis. Our results show that short stature in LP can not be explained by endocrinological abnormalities. Short stature may be an intrinsic component of the syndrome.
authors.affiliation: İstanbul University, İstanbul Faculty of Medicine, Department of Pediatrics, Pediatric Endocrinology Unit, İstanbul, Turkey. sukranpoyrazoglu@yahoo.com
authors.forename: Şükran
authors.initials: Ş
authors.lastname: Poyrazoğlu
authors.forename: Hülya
authors.initials: H
authors.lastname: Günöz
authors.forename: Feyza
authors.initials: F
authors.lastname: Darendeliler
mesh_terms: D000293:Adolescent; D001827:Body Height; D004392:Dwarfism / Q000097:blood / Q000150:complications* / Q000473:pathology; D016326:Extracellular Matrix Proteins / Q000235:genetics; D006728:Hormones / Q000097:blood; D006801:Humans; D008065:Lipoid Proteinosis of Urbach and Wiethe / Q000150:complications / Q000235:genetics / Q000473:pathology*; D008297:Male; D017384:Sequence Deletion
chemical_list: C490607:ECM1 protein, human; D016326:Extracellular Matrix Proteins; D006728:Hormones