Focal Dermal Hypoplasia

Focal 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...

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...

Almost 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...

[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...