Blaschko Linear Enamel Defects - A Marker for Focal Dermal Hypoplasia: Case Report of Focal Dermal Hypoplasia
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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...
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 کاملFocal Dermal Hypoplasia: A Male Case
A 17-year-old male presented with multiple linear distributed erythema and papules which first appeared since birth. The erythema was fragile, easily traumatized, and often healed with hypopigmented atrophic scars. The right first and second fingers and nails were hypoplastic. Generalized linear or whorled hyperpigmented patches gradually developed and multiple papillomatous papules emerged dur...
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)
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...
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ژورنال
عنوان ژورنال: Case Reports in Dermatology
سال: 2015
ISSN: 1662-6567
DOI: 10.1159/000430781