[Lipoid proteinosis in 2 sisters].

---

OEZARMAGAN G., BAYKAL C., GURSOY E., YILMAZER S., BUYUKBABANI N., COBAN O.

Der Hautarzt; Zeitschrift fur Dermatologie, Venerologie, und verwandte Gebiete, cilt.44, sa.5, ss.315-8, 1993 (SCI-Expanded, Scopus)

• Yayın Türü: Makale / Tam Makale
• Cilt numarası: 44 Sayı: 5
• Basım Tarihi: 1993
• Dergi Adı: Der Hautarzt; Zeitschrift fur Dermatologie, Venerologie, und verwandte Gebiete
• Derginin Tarandığı İndeksler: Science Citation Index Expanded (SCI-EXPANDED), Scopus
• Sayfa Sayıları: ss.315-8
• İstanbul Üniversitesi Adresli: Evet

Özet

Lipoid proteinosis was diagnosed in two daughters of a consanguinous marriage on the basis of genetic, clinical, light microscopic and ultrastructural findings. Hyaline material accumulation, thickening of the basal laminae and the resulting typical onion skin phenomenon were observed. In addition to the pathognomonic cutaneous mucosal findings, unusual manifestations such as persistence of deciduous teeth (in one case), oligodontia and intracerebral calcifications were observed. In one patient, the intracerebral calcifications caused epileptic seizures.