Patients with areas of total absence of skin at
birth have been reported. More commonly, skin changes are usually present at
birth or develop shortly thereafter from erythematous areas. Papillomas
usually develop later, involving the mucous membranes or skin. Lesions of
the oropharynx and peritonsillar regions have been described. Laryngeal
papillomas requiring tracheostomy in one case and esophageal papillomas
associated with strictures have been described. In addition, anomalies
involving the hands (syndactyly, polydactyly, camptodactyly, missing digits or
entire hand), skeleton (hypoplasia or aplasia or the truncal skeleton), mouth (lip
papillomas, hypoplastic teeth), and eyes (coloboma of iris and choroid,
strabismus, microphthalmia) have been present in some cases.
Gastroesophageal reflux, short stature, and mental retardation occur in many
patients. Course and prognosis dependent upon the type and severity of
noncutaneous involvement. Treatment is symptomatic. One case report describes a stillborn
girl with Goltz syndrome who had truncus arteriosus II with hypoplastic
pulmonary vasculature (arteries and veins) and lungs, massive diaphragmatic hernia and
absence of one kidney.