Goltz syndrome: a case report from Iran
نویسندگان
چکیده مقاله:
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.
منابع مشابه
Goltz 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.
متن کاملKindler Syndrome: A case Report from Iran
Kindler syndrome (KS) is a rare, autosomal recessive genodermatosis characterized by skin blistering and photosensitivity in infancy, progressive poikiloderma, and diffuse cutaneous atrophy. It affects the skin, mucous membranes, and oral cavity and is caused by mutations in the KIND1 gene on 20p12.3. The first case of KS associated with periodontitis was reported in 1996, and have been infrequ...
متن کامل[Gorlin-Goltz syndrome--a case report].
UNLABELLED The Gorlin-Goltz syndrome (GGS) (the nevoid basal cell carcinoma syndrome-NBCCS) is an autosomal dominant syndrome caused by mutations found on chromosome 9. The syndrome is characterized by increased predisposition to develop a basal cell carcinoma and associated with multiorgan anomalies. THE AIM OF THIS WORK To present a case of GGS and explain modern standards of care for patie...
متن کاملGorlin-Goltz syndrome – A case Report
Gorlin-Goltz syndrome is a rare autosomal dominant disorder that involves multiple organ systems, including the skin, skeleton and jaws. We report a case of young female with multiple odontogenic keratocysts, high arched palate, euryopia, palmer pits, solitary, pigmented nevus , areas of hyper-pigmentation in the upper eyelid of left eye, dorsal surface of hands, calcified diaphragma sellae, ri...
متن کاملGorlin-Goltz syndrome: A rare case report
Gorlin-Goltz syndrome (GS), also known as nevoid basal cell carcinoma syndrome, is an infrequent multisystem disease inherited in a dominant autosomal way, which shows a high level of penetrance and variable expressiveness. It is characterised by keratocystic odontogenic tumours (KCOT) in the jaw, multiple basal cell nevi carcinomas and skeletal abnormalities. This syndrome may be diagnosed ear...
متن کاملGorlin-goltz Syndrome: a Rare Case Report
Although odontogenic keratocysts are common in clinical practice, the simultaneous occurrence of multiple cysts in both the maxilla and mandible of a patient is rare. Gorlin-Goltz syndrome is an inherited autosomal dominant disorder with complete penetrance and extreme variable expressivity. It is characterized by keratocystic odontogenic tumors (KCOT) in the jaws, multiple basal cell nevi carc...
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عنوان ژورنال
دوره 15 شماره 2
صفحات 56- 58
تاریخ انتشار 2012-07-01
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