Infantile systemic hyalinosis with early thyroid dysfunction

Pirgon, Ozgur; Atabek, Mehmet; Esen, H.; Cangul, H.

doi:10.1515/jpem.2007.20.7.833

Infantile systemic hyalinosis with early thyroid dysfunction

Atıf İçin Kopyala

Pirgon O., Atabek M. E., Esen H. H., Cangul H.

JOURNAL OF PEDIATRIC ENDOCRINOLOGY & METABOLISM, cilt.20, sa.7, ss.833-836, 2007 (SCI-Expanded)

Yayın Türü: Makale / Tam Makale
Cilt numarası: 20 Sayı: 7
Basım Tarihi: 2007
Doi Numarası: 10.1515/jpem.2007.20.7.833
Dergi Adı: JOURNAL OF PEDIATRIC ENDOCRINOLOGY & METABOLISM
Derginin Tarandığı İndeksler: Science Citation Index Expanded (SCI-EXPANDED), Scopus
Sayfa Sayıları: ss.833-836
Bursa Uludağ Üniversitesi Adresli: Hayır

Özet

Infantile systemic hyalinosis is an autosomal recessive disorder characterized by diffuse hyaline deposits in the skin, gastrointestinal tract, muscles and glands. The molecular basis of infantile systemic hyalinosis is unknown. The main pathological feature is widespread hyalinosis of many tissues and organs. We present an 18 month-old girl with infantile systemic hyalinosis and hypothyroidism. Newly diagnosed children with infantile systemic hyalinosis should have thyroid studies as a routine part of diagnostic work-up.