TY  - JOUR
TI  - Mucopolysaccharidosis Type-II with
Pathognomonic Skin Appearance: A Case with
Pebbling Sign
AB  - Mucopolysaccharidosis type-II (MPS-II) is an X-linked lysosomal storage disorder. Here, we report an 8-year-old boy with pebbling sign in the
scapular region, coarse facies, claw hand, diastolic murmur, and hepatomegaly. With decreased iduronate-2-sulfatase activity and hemizygous
mutation in the IDS gene, the diagnosis was MPS-II. Pebbling sign is a rare but pathognomonic sign of MPS-II.
AU  - bulut, fatma derya
AU  - Telefon, Ayşe Hitay
AU  - karakaş, mehmet
AU  - Önenli Mungan, Halise Neslihan
AU  - KÖR, DENİZ
AU  - Kilavuz, Sebile
AU  - Seker Yilmaz, Berna
DO  - 10.4274/jpr.galenos.2020.82621
PY  - 2021
JO  - The Journal of Pediatric Research
VL  - 8
IS  - 2
SN  - 2147-9445
SP  - 206
EP  - 208
DB  - TRDizin
UR  - http://search/yayin/detay/516440
ER  -