Focal dermal hypoplasia (Goltz) syndrome with multiple family member involvement: A case report

Focal 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...

Focal 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...

[Focal dermal hypoplasia. Goltz syndrome].

Focal dermal hypoplasia (Goltz syndrome).

A 17-year-old female with Goltz's syndrome was examined because of visual acuity loss in her right eye. Ocular examination revealed microcornea, iris, choroid and optic disc coloboma in the right eye. There were several erthematous and hyperpigmented areas on the body. Magnetic resonance (MR) imaging of the orbits and brain demonstrated right optic nerve hypoplasia and diffuse cortical and cere...

Goltz syndrome (focal dermal hypoplasia) with unilateral ocular, cutaneous and skeletal features: case report

BACKGROUND Goltz syndrome or focal dermal hypoplasia (FDH) is an uncommon multisystem disorder. Herein, we report a typical case of FDH with unilateral ocular, cutaneous and skeletal features. CASE PRESENTATION a 4-year-old girl presented with microphthalmos and iris coloboma of the left eye, facial asymmetry, and a low-set protruding ear. Cutaneous changes included hypopigmented atrophic mac...

Focal dermal hypoplasia syndrome (Goltz syndrome): the first dental case report.

The first dental case report of a patient with focal dermal hypoplasia syndrome (FDHS) is presented. A review of signs and symptoms of FDHS is presented along with newly reported oral findings. This patient apparently is the first person with FDHS to have an absent sternum and the fifteenth person reported with confirmed osteopathia striata. Carious lesions can be difficult to restore in FDHS d...