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Witkop tooth and nail syndrome: a case report
S Devadas1, B Varma, J Mungara
1Department of Paediatric and Preventive Dentistry, Ragas Dental College and Hospital, Chennai, India. drsheeba_das@hotmail.com
International Journal of Paediatric Dentistry
|September 1, 2005
Summary
Witkop tooth and nail syndrome, a rare ectodermal dysplasia, involves missing teeth and nail abnormalities, often linked to MSX-1 gene mutations. This case report details the clinical and radiographic features in a mother and child.
Area of Science:
- Genetics
- Oral and Maxillofacial Surgery
- Dermatology
Background:
- Witkop tooth and nail syndrome is an autosomal dominant ectodermal dysplasia.
- It is characterized by hypodontia (missing teeth) and nail dysplasia (abnormal nails).
- Mutations in the MSX-1 gene are implicated in the pathogenesis of this rare condition.
Observation:
- The study describes the clinical and radiographic features of a mother and child with Witkop tooth and nail syndrome.
- Commonly affected teeth include mandibular incisors, secondary molars, and maxillary canines.
- Nail dysplasia presents as spoon-shaped, rigid, slow-growing, and brittle nails, often more severe in childhood.
Findings:
- Hypodontia and varying tooth shapes, such as conical and narrow crowns, were observed.
- Nail abnormalities included spoon-shaped, rigid, slow-growing, and easily broken nails.
- The MSX-1 gene mutation is a key genetic factor in this syndrome.
Implications:
- Understanding the clinical and radiographic spectrum of Witkop tooth and nail syndrome is crucial for accurate diagnosis.
- Genetic analysis, particularly of the MSX-1 gene, aids in confirming the diagnosis.
- This case report contributes to the literature on this rare ectodermal dysplasia, aiding future research and patient management.