The skin may be diffusely erythematous and scaly. This often becomes patchier with well-demarcated areas especially in skin folds of the neck, axillae, and groin. Older patients with likely autosomal recessive disease have hepatomegaly and may suffer cirrhosis and liver failure. Short stature and mental retardation have also been noted. The hearing loss is neurosensory in type. Epidermal glycogen deposition has been found in one patient with the presumed recessive disorder.
In the presumed autosomal dominant disease, growth failure, mental retardation and liver disease do not seem to be present. However, oral and skin squamous cell carcinomas, as well as malignant pilar tumors of the scalp may lead to early death.