Focal dermal hypoplasia or goltz syndrome: A rare association with keratoconus

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...

Focal 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...

Focal dermal hypoplasia (Goltz-Gorlin) syndrome with taurodontism.

This paper is a case report of a 10-year-old girl with focal dermal hypoplasia (FDH) who presented for dental care. She displayed many of the well-documented oral features associated with this syndrome. Additionally, she had taurodontism of a permanent mandibular molar. Although taurodontism affected only one tooth in this patient, the presentation of taurodontism with FDH has not been reported...