Abstract
Goltz sendromu (Fokal dermal hipoplazi), mezoektodermal dokuyu tutan ve çok nadir görülen bir hastalıktır. Deri lezyonları ile birlikte iskelet sistemi, dental ve oküler anomaliler, hastaların az bir kısmında da kalp ve böbrek anomalileri görülebilmektedir. Makalede, Goltz sendromu tanısı alan, biküspit aort kapağı ve buna bağlı aort kapak darlığı ve yetmezliği olan beş yaşındaki kız hasta olgu olarak sunuldu ve seyrek görülen bu hastalık, son literatür bilgileri eşliğinde tartışıldı.
Keywords
References
- Goltz RW, Peterson WC, Gorlin RJ, Ravits HG. Focal dermal hypoplasia. Arch Dermatol 1962;86:708-17.
- Goltz RW. Focal dermal hypoplasia syndrome. An update. Arch Dermatol 1992;128:1108-11.
- Kilic A, Soylu S, Arslan E, Gul U, Demiriz M. Focal dermal hypoplasia (Goltz Syndrome): Case report. Turkiye Klinikleri J Dermatol 2009;19:107-10.
- Sule RR, Dhumawat DJ, Gharpuray MB. Focal dermal hypoplasia. Cutis 1994;53:309-12.
- Young MP, Sawyer BL, Hartnett ME. Ophthalmologic findings in an 18-month-old boy with focal dermal hypoplasia. J AAPOS 2014;18:205-7.
- Sert A, Odabaş D, Bilgin H, Koçak N, Kayaçetin S. A newborn with goltz syndrome: Case report. Turkiye Klinikleri J Pediatr 2012;21:65-8.
- Stevenson DA, Chirpich M, Contreras Y, Hanson H, Dent K. Goltz syndrome and PORCN mosaicism. Int J Dermatol 2014;53: 1481-4.
- Wang X, Reid Sutton V, Omar Peraza-Llanes J, Yu Z, Rosetta R, Kou YC, et al. Mutations in X-linked PORCN, a putative regulator of Wnt signaling, cause focal dermal hypoplasia. Nat Genet 2007;39: 836-8.
Abstract
Goltz Syndrome (focal dermal hypoplasia) is a rare disease that is characterized by mesoectodermal tissue abnormalities. In addition to cutaneous lesions, there may be skeletal, dental, and ocular defects as well as cardiac and renal abnormalities in a minority of patients. In this article, a 5-year-old girl with aortic stenosis and regurgitation related to bicuspid aortic valve and diagnosed with Goltz Syndrome is presented. This rare syndrome has been discussed with the help of the recent literature
Keywords
References
- Goltz RW, Peterson WC, Gorlin RJ, Ravits HG. Focal dermal hypoplasia. Arch Dermatol 1962;86:708-17.
- Goltz RW. Focal dermal hypoplasia syndrome. An update. Arch Dermatol 1992;128:1108-11.
- Kilic A, Soylu S, Arslan E, Gul U, Demiriz M. Focal dermal hypoplasia (Goltz Syndrome): Case report. Turkiye Klinikleri J Dermatol 2009;19:107-10.
- Sule RR, Dhumawat DJ, Gharpuray MB. Focal dermal hypoplasia. Cutis 1994;53:309-12.
- Young MP, Sawyer BL, Hartnett ME. Ophthalmologic findings in an 18-month-old boy with focal dermal hypoplasia. J AAPOS 2014;18:205-7.
- Sert A, Odabaş D, Bilgin H, Koçak N, Kayaçetin S. A newborn with goltz syndrome: Case report. Turkiye Klinikleri J Pediatr 2012;21:65-8.
- Stevenson DA, Chirpich M, Contreras Y, Hanson H, Dent K. Goltz syndrome and PORCN mosaicism. Int J Dermatol 2014;53: 1481-4.
- Wang X, Reid Sutton V, Omar Peraza-Llanes J, Yu Z, Rosetta R, Kou YC, et al. Mutations in X-linked PORCN, a putative regulator of Wnt signaling, cause focal dermal hypoplasia. Nat Genet 2007;39: 836-8.
Details
| Other ID | JA77TE69VF |
|---|---|
| Journal Section | Case Report |
| Authors | |
| Publication Date | June 1, 2016 |
| Submission Date | June 1, 2016 |
| Published in Issue | Year 2016 Volume: 10 Issue: 2 |
The publication language of Turkish Journal of Pediatric Disease is English.
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