Eye-Lid Involvement in Urbach-Wiethe Disease

Ozbek Z., Kaya M., SÖYLEV BAJİN M. F., Soatci A. O., DURAK İ., Lebe B.

TURK OFTALMOLOJI DERGISI-TURKISH JOURNAL OF OPHTHALMOLOGY, cilt.36, sa.4, ss.364-368, 2006 (ESCI, TRDizin) identifier

  • Yayın Türü: Makale / Tam Makale
  • Cilt numarası: 36 Sayı: 4
  • Basım Tarihi: 2006
  • Dergi Adı: TURK OFTALMOLOJI DERGISI-TURKISH JOURNAL OF OPHTHALMOLOGY
  • Derginin Tarandığı İndeksler: Emerging Sources Citation Index (ESCI), TR DİZİN (ULAKBİM)
  • Sayfa Sayıları: ss.364-368
  • Anahtar Kelimeler: Dry eye syndrome, eyelid papilloma, Urbach-Wiethe Disease
  • Dokuz Eylül Üniversitesi Adresli: Evet

Özet

A 27 year old female presented with burning, redness, tearing and little bumps on eye-lid margins. Her visual acuity was 20/20 in both eyes. Slit-lamp microscopy was within normal limits except for multiple papulonodular lesions on both eye-lid margins. Biopsy of the lesions revealed extracellular deposition of byalinized amorphous material. Considering the result of the Dermatology consult for skin lesions and the Otolaryngological consult for hoarseness, the patient was diagnosed with Urbach-Wiethe Disease (lipoid proteinosis). 'Hyalinosis cutis et mucosae' is a rare genetic disorder characterised by the deposition of glycoprotein material in mucocutaneous junctions, skin, salivary glands, oral cavity and other organs. Regression with or without treatment is rare. We hereby report an interesting case of Urbach-Wiethe Disease who presented with primary ocular complaints.