Cross-Sectional Study Evaluating Skin, Hair, Nail, and Bone Disease in Patients with Focal Dermal Hypoplasia
نویسندگان
چکیده
منابع مشابه
Focal Dermal Hypoplasia (Goltz Syndrome): A Cross-sectional Study from Eastern India
INTRODUCTION Focal dermal hypoplasia (Goltz syndrome), is an extremely rare genetic disorder characterized by distinct skin manifestations and a wide range of abnormalities involving the ocular, dental, skeletal, urinary, gastrointestinal, cardiovascular, and central nervous systems. The objective of the present series is to emphasize the different typical as well as unusual features of this ra...
متن کاملFocal dermal hypoplasia.
Attention was drawn by Goltz, Peterson, Gorlin, and Ravits (1962) to a rare syndrome of multiple congenital defects affecting tissues of both mesodermal and ectodermal origin. The universal feature of their three initial cases was the skin abnormality, which consisted of areas of extremely thin or absent dermis, frequently with localized herniations of subcutaneous fat into the epidermis appear...
متن کاملLow Bone Mineral Density and Associated Factors in Patients with Cystic Fibrosis: A Cross-Sectional Study
Background: Failure to maintain bone mass density is a major complication in patients with cystic fibrosis (CF). This study was conducted to evaluate the prevalence of low bone mineral density (BMD) and also identifying associated risk factors in CF patients. Materials and Methods: Present study conducted on 59 CF patients aged 5-35 years referred to respiratory clinic of Masih Daneshvari Hospi...
متن کاملFocal dermal hypoplasia (Goltz syndrome)
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 feature...
متن کاملAlmost Unilateral Focal Dermal Hypoplasia
Focal dermal hypoplasia, caused by mutations in PORCN, is an X-linked ectodermal dysplasia, also known as Goltz syndrome. Only seven cases of unilateral or almost unilateral focal dermal hypoplasia have been reported in the English literature and there have been no previously reported cases in the Republic of Korea. A 19-year-old female presented with scalp defects, skin lesions on the right le...
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ژورنال
عنوان ژورنال: Pediatric Dermatology
سال: 2016
ISSN: 0736-8046
DOI: 10.1111/pde.13056