Odontoonychodermal

Odontoonychodermal dysplasia, also known as odonto-onycho-dermal dysplasia (OODD), is a rare autosomal recessive ectodermal dysplasia characterized by abnormal development of ectodermal structures, particularly teeth, nails, and skin. The condition reflects disruption of pathways that govern ectodermal differentiation and morphogenesis.

Clinical features commonly involve dental anomalies such as hypodontia or anodontia (missing teeth), irregular tooth shapes such as conical crowns, enamel defects, and delayed eruption. Nail findings range from hypoplastic or dystrophic nails to complete anonychia in more severe cases. Skin manifestations can include dry, scaly skin with follicular hyperkeratosis and, in some individuals, palmoplantar keratoderma. Hair may be affected, with sparse or fragile scalp hair reported in some cases. These features are typically present from birth or early childhood and may vary in severity between individuals.

Genetically, most cases are inherited in an autosomal recessive pattern. The disorder has been associated with mutations in genes involved in ectodermal development; however, the exact molecular cause can vary among families, and multiple genes may be implicated in different individuals.

Diagnosis relies on clinical recognition of the characteristic triad (dental, nail, and skin findings) supported by dental radiographs showing tooth agenesis or abnormal morphology. Genetic testing can confirm involvement of known ectodermal dysplasia-related genes.

Management is multidisciplinary, focusing on functional and cosmetic rehabilitation. Dental care may include prosthetic replacements and orthodontic planning; dermatologic care emphasizes symptomatic treatment of dry skin and hyperkeratosis; nail therapy addresses dystrophy. Prognosis varies with severity, but individuals can achieve good functional outcomes with early, comprehensive care.