Epidermolysis bullosa simplex with anodontia/hypodontia

Epidermolysis bullosa simplex with anodontia/hypodontia (also known as Witkop syndrome, tooth and nail syndrome, or nail dysplasia with hypodontia) is a rare genetic disorder characterized by the combination of skin fragility with blistering and dental abnormalities. Despite the Orphanet classification under epidermolysis bullosa simplex, this condition is more commonly recognized as Witkop syndrome or tooth and nail syndrome, which primarily affects the ectodermal structures — specifically the teeth and nails. Affected individuals typically present with hypodontia (congenitally missing teeth) or, in severe cases, anodontia (complete absence of teeth). The missing teeth most commonly involve the permanent dentition, though primary teeth may also be affected. Nail abnormalities are a hallmark feature, with nails that may be thin, small, spoon-shaped (koilonychia), slow-growing, or dystrophic, particularly affecting the toenails. Some patients may also exhibit mild skin fragility with blistering, consistent with the epidermolysis bullosa simplex spectrum. Hair and sweat gland function are generally normal, which helps distinguish this condition from other ectodermal dysplasias. Management is primarily supportive and symptomatic. Dental treatment is a major focus, often requiring prosthetic dental appliances, dental implants, or dentures to restore function and aesthetics. Nail care and protection of fragile skin are also important components of management. Genetic counseling is recommended for affected families. There is currently no curative treatment available for this condition.

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