Systemic Inherited Disorders with Oral or Perioral Soft Tissue Involvement

This chapter discusses some of the various systemic inherited disorders involving oral or perioral soft tissue involvement. Acrodermatitis enteropathica is rare and is characterized by skin lesions, hair loss, nail changes, and gastrointestinal disturbances. Acrodermatitis enteropathica generally becomes manifest between three weeks and ten years of age and is only occasionally seen in adults. The lips and perioral skin are affected. Pustular formation at the angle of the mouth is almost always complicated with deep fissuring. Bloom syndrome is inherited in an autosomal recessive manner. It has an increased incidence among Jews of Eastern-European extraction. Parental consanguinity, while higher among non-Jews, is no greater among Jews, indicating the rarity of the gene among the former. The Chediak–Higashi syndrome is manifested by defective pigmentation, large eosinophilic, peroxidase-positive inclusion bodies in myeloblasts and promyelocytes of the bone marrow, neutropenia, and susceptibility to infection and malignant lymphoma. The syndrome is inherited in an autosomal recessive manner.