Mucopolysaccharidosis Type-II with Pathognomonic Skin Appearance: A Case with Pebbling Sign
Yıl: 2021 Cilt: 8 Sayı: 2 Sayfa Aralığı: 206 - 208 Metin Dili: İngilizce DOI: 10.4274/jpr.galenos.2020.82621 İndeks Tarihi: 09-06-2022
Mucopolysaccharidosis Type-II with Pathognomonic Skin Appearance: A Case with Pebbling Sign
Öz: 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.
Anahtar Kelime: Belge Türü: Makale Makale Türü: Olgu Sunumu Erişim Türü: Erişime Açık
- 1. Jones S, Wijburg F. Mucopolysaccharidoses. In: Saudubray JM, Baumgartner MR, Walter J (eds). Inborn Metabolic Diseases Diagnosis and Treatment, 6th ed. Berlin, Springer, 2016;577-84.
- 2. Hunter C. A rare disease in two brothers. Proc R Soc Med 1917; 10:104-16.
- 3. Martin R, Beck M, Eng C. Recognition and diagnosis of mucopolysaccharidosis ii (hunter syndrome). Pediatrics 2008; 121:e377-86. doi: 10.1542/peds.2007-1350.
- 4. Cole HN, Irving RC, Lund HZ, et al: Gargoylism with cutaneous manifestations. Arch Dermatol 1952; 66:371-83.
- 5. Prystowsky SD, Maumenee IH, Freeman RG, Herndon JH Jr, Harrod MJ. A cutaneous marker in the Hunter syndrome-a report of four cases. Arch Dermatol 1977; 113:602-5.
- 6. Maize J, Metcalf J. Metabolic diseases of the skin. In: Elder D, Elenitsas R, Jaworsky C, Johnson B Jr (eds). Lever’s histopathology of the skin, 8th ed. Philadelphia, Lippincott-Raven, 1997;392-3.
- 7. Freeman RG. A pathological basis for the cutaneous papules of mucopolysaccharidosis II (The Hunter syndrome). J Cutan Pathol 1977; 4:318-20.
- 8. Thappa DM, Singh A, Jaisankar TJ, Rao R, Ratnakar C. Pebbling of the skin: a marker of Hunter’s syndrome. Pediatr Dermatol 1998; 15:370-3.
| APA | Telefon A, Seker Yilmaz B, bulut f, Kilavuz S, KÖR D, karakaş m, Önenli Mungan H (2021). Mucopolysaccharidosis Type-II with Pathognomonic Skin Appearance: A Case with Pebbling Sign. , 206 - 208. 10.4274/jpr.galenos.2020.82621 |
| Chicago | Telefon Ayşe Hitay,Seker Yilmaz Berna,bulut fatma derya,Kilavuz Sebile,KÖR DENİZ,karakaş mehmet,Önenli Mungan Halise Neslihan Mucopolysaccharidosis Type-II with Pathognomonic Skin Appearance: A Case with Pebbling Sign. (2021): 206 - 208. 10.4274/jpr.galenos.2020.82621 |
| MLA | Telefon Ayşe Hitay,Seker Yilmaz Berna,bulut fatma derya,Kilavuz Sebile,KÖR DENİZ,karakaş mehmet,Önenli Mungan Halise Neslihan Mucopolysaccharidosis Type-II with Pathognomonic Skin Appearance: A Case with Pebbling Sign. , 2021, ss.206 - 208. 10.4274/jpr.galenos.2020.82621 |
| AMA | Telefon A,Seker Yilmaz B,bulut f,Kilavuz S,KÖR D,karakaş m,Önenli Mungan H Mucopolysaccharidosis Type-II with Pathognomonic Skin Appearance: A Case with Pebbling Sign. . 2021; 206 - 208. 10.4274/jpr.galenos.2020.82621 |
| Vancouver | Telefon A,Seker Yilmaz B,bulut f,Kilavuz S,KÖR D,karakaş m,Önenli Mungan H Mucopolysaccharidosis Type-II with Pathognomonic Skin Appearance: A Case with Pebbling Sign. . 2021; 206 - 208. 10.4274/jpr.galenos.2020.82621 |
| IEEE | Telefon A,Seker Yilmaz B,bulut f,Kilavuz S,KÖR D,karakaş m,Önenli Mungan H "Mucopolysaccharidosis Type-II with Pathognomonic Skin Appearance: A Case with Pebbling Sign." , ss.206 - 208, 2021. 10.4274/jpr.galenos.2020.82621 |
| ISNAD | Telefon, Ayşe Hitay vd. "Mucopolysaccharidosis Type-II with Pathognomonic Skin Appearance: A Case with Pebbling Sign". (2021), 206-208. https://doi.org/10.4274/jpr.galenos.2020.82621 |
| APA | Telefon A, Seker Yilmaz B, bulut f, Kilavuz S, KÖR D, karakaş m, Önenli Mungan H (2021). Mucopolysaccharidosis Type-II with Pathognomonic Skin Appearance: A Case with Pebbling Sign. The Journal of Pediatric Research, 8(2), 206 - 208. 10.4274/jpr.galenos.2020.82621 |
| Chicago | Telefon Ayşe Hitay,Seker Yilmaz Berna,bulut fatma derya,Kilavuz Sebile,KÖR DENİZ,karakaş mehmet,Önenli Mungan Halise Neslihan Mucopolysaccharidosis Type-II with Pathognomonic Skin Appearance: A Case with Pebbling Sign. The Journal of Pediatric Research 8, no.2 (2021): 206 - 208. 10.4274/jpr.galenos.2020.82621 |
| MLA | Telefon Ayşe Hitay,Seker Yilmaz Berna,bulut fatma derya,Kilavuz Sebile,KÖR DENİZ,karakaş mehmet,Önenli Mungan Halise Neslihan Mucopolysaccharidosis Type-II with Pathognomonic Skin Appearance: A Case with Pebbling Sign. The Journal of Pediatric Research, vol.8, no.2, 2021, ss.206 - 208. 10.4274/jpr.galenos.2020.82621 |
| AMA | Telefon A,Seker Yilmaz B,bulut f,Kilavuz S,KÖR D,karakaş m,Önenli Mungan H Mucopolysaccharidosis Type-II with Pathognomonic Skin Appearance: A Case with Pebbling Sign. The Journal of Pediatric Research. 2021; 8(2): 206 - 208. 10.4274/jpr.galenos.2020.82621 |
| Vancouver | Telefon A,Seker Yilmaz B,bulut f,Kilavuz S,KÖR D,karakaş m,Önenli Mungan H Mucopolysaccharidosis Type-II with Pathognomonic Skin Appearance: A Case with Pebbling Sign. The Journal of Pediatric Research. 2021; 8(2): 206 - 208. 10.4274/jpr.galenos.2020.82621 |
| IEEE | Telefon A,Seker Yilmaz B,bulut f,Kilavuz S,KÖR D,karakaş m,Önenli Mungan H "Mucopolysaccharidosis Type-II with Pathognomonic Skin Appearance: A Case with Pebbling Sign." The Journal of Pediatric Research, 8, ss.206 - 208, 2021. 10.4274/jpr.galenos.2020.82621 |
| ISNAD | Telefon, Ayşe Hitay vd. "Mucopolysaccharidosis Type-II with Pathognomonic Skin Appearance: A Case with Pebbling Sign". The Journal of Pediatric Research 8/2 (2021), 206-208. https://doi.org/10.4274/jpr.galenos.2020.82621 |
