Focal dermal hypoplasia (Goltz syndrome)
نویسنده
چکیده
The Gulf Journal of Dermatology and Venereology ABSTRACT Focal dermal hypoplasia (FDH) or Goltz syndrome is a rare genodermatosis, characterized by multiple abnormalities of ectodermal and mesodermal origin. We present an infant with focal dermal hypoplasia who, besides having a constellation of anomalies commonly encountered in patients with this syndrome, manifested additional unusual features such as cleft lip and palate.
منابع مشابه
Focal dermal hypoplasia (Goltz) syndrome with multiple family member involvement: A case report
Goltz syndrome or focal dermal hypoplasia is a rare syndrome with mesoectodermal hypoplasia. This syndrome is an X-linked dominant disorder with involvement of the cutaneous, ocular, dental and skeletal systems. The most significant feature of this disease is connective tissue dysplasia. Here, we report a 30-year old woman who presented with congenital unilateral linear atrophic areas on her tr...
متن کاملGoltz syndrome: a case report from Iran
Focal dermal hypoplasia or Goltz syndrome is a rare genodermatosis involving all three embryonic layers. Herein, the first case of this syndrome from Iran will be reported. The main clinical features were fat herniation, reticulate pigmentations, telangiectasia, and skeletal defects.
متن کاملGoltz syndrome: A case report
Goltz syndrome / Focal Dermal Hypoplasia (FDH) is a rare syndrome resulting from developmental defects in tissues with mesodermal origin such as eye, skin, mouth, muscoloskeletal, and central nervous system. We report a 13-year-old girl with FDH who had several features of skin, eye, and mouth involvement. She also had revurrent otitis media, which has not been reported so far.
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6. Aoyama M., Sawada h., Shintani Y., Isomura I., Morita A. Case of unilateral focal dermal hypoplasia (Goltz syndrome). J Dermatol. 2008; 35:33-5. 7. Leoyklang P., Suphapeetiporn K., Wananukul S., Shotelersuk V. Three novel mutations in the POrCn gene underlying focal dermal hypoplasia. Clin Genet. 2008; 73:373-9. 8. Goltz r.W. Focal dermal hypoplasia syndrome. An update. Arch Dermatol. 1992; ...
متن کاملFocal dermal hypoplasia. Goltz syndrome. A case report.
Focal dermal hypoplasia (Goltz syndrome) is a rare syndrome comprising developmental anomalies of tissues and organs of mesoectodermal origin. As a result, there are abnormalities of the eyes, skin, oral structures, musculoskeletal system and central nervous system. This article describes the case of a four-year-old female with focal dermal hypoplasia (FDH) who displayed many of the oral featur...
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