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November 1969

Picture of the Month

Author Affiliations

Boston; Allentown, Pa

Am J Dis Child. 1969;118(5):765-766. doi:10.1001/archpedi.1969.02100040767014

Denouement and Discussion 

Focal Dermal Hypoplasia  (Goltz's Syndrome)

Manifestations  Major manifestations include areas of dermal hypoplasia through which nodules of adipose tissue herniate; angiofibromas around the mouth, vulva, and anus; dystrophy of the nails; and other skin, eye, dental, and skeletal abnormalities.Present at birth are areas of linear dermal hypoplasia (appearing as atrophied skin) and/or areas of complete absence of skin. The nodules of adipose tissue which herniate through the skin are yellowish-brown in color. Telangiectasia and hyperpigmentation (occasionally hypopigmentation) are frequently found. Angiofibromas appear as verrucous papules located around the mouth, vulva, and anus. They are usually red with a rough surface, are not well demarcated and may be mistaken for warts. Dystrophy of the nails is very common. Dental abnormalities include congenitally absent or malformed teeth and malocclusion of the teeth. Microph thalmia, colobomas, strabismus, and nystagmus are frequent eye findings. The