Focal dermal hypoplasia: a case report and review of literature
نویسندگان
چکیده
منابع مشابه
Blaschko Linear Enamel Defects – A Marker for Focal Dermal Hypoplasia: Case Report of Focal Dermal Hypoplasia
Focal dermal hypoplasia (FDH) is a rare genetic skin disorder. The inheritance of FDH or Goltz-Gorlin syndrome is X-linked dominant and the disease is associated with a PORCN gene mutation. This gene plays a key role in the Wnt pathway, which has an impact on embryonic development. Every tissue derived from meso- and ectoderm can be affected. Patients suffer from cutaneous, ocular, osseous, ora...
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Introduction: Oral focal mucinosis (OFM) is the soft tissue counterpart of cutaneous fo-cal mucinosis (CFM) and is often misdiagnosed as an oral myxoma. OFM occurs during the fourth and fifth decades of life, predominantly in women (two females per male). Case Report: A 22-year-old lactating female presented with a growing painless, sessile tumor with pale pink color and a lobulated surface wi...
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Focal dermal hypoplasia (FDH) is a rare inherited genodermatosis with an X-linked dominant trait. FDH is associated with skin defects and other abnormalities of bone, nails, hair, limbs, teeth and eyes. We present the case of a 26-year-old female in the 27th pregnancy week and a previous history of miscarriage. After careful physical examination and dermal biopsy, histopathology revealed that t...
متن کاملFocal 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 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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ژورنال
عنوان ژورنال: West African Journal of Medicine
سال: 2004
ISSN: 0189-160X
DOI: 10.4314/wajm.v22i4.28061