Acro-dermato-ungual-lacrimal-tooth syndrome
Acro-dermato-ungual-lacrimal-tooth syndrome Acro-dermato-ungual-lacrimal-tooth syndrome (ADULT syndrome) is a rare genetic disorder characterized by a combination of ectodermal dysplasia, limb malformations, and other systemic abnormalities. This condition is part of a group of disorders known as ectodermal dysplasias, which affect the development of the skin, hair, nails, teeth, and sweat glands.
Clinical Features[edit | edit source]
ADULT syndrome is primarily characterized by the following clinical features:
- Ectodermal Dysplasia: This includes abnormalities in the development of the skin, hair, nails, and teeth. Patients may exhibit hypohidrosis, hypotrichosis, and nail dysplasia.
- Limb Malformations: These can include syndactyly (fusion of fingers or toes), brachydactyly (short fingers or toes), and other limb anomalies.
- Lacrimal Duct Anomalies: Patients may have underdeveloped or absent lacrimal ducts, leading to chronic tearing or dry eyes.
- Dental Anomalies: These can include hypodontia (missing teeth), microdontia (small teeth), and other dental abnormalities.
Genetic Basis[edit | edit source]
ADULT syndrome is caused by mutations in the TP63 gene, which plays a crucial role in the development and maintenance of stratified epithelial tissues. The TP63 gene is located on chromosome 3q28. Mutations in this gene can lead to a variety of ectodermal dysplasia syndromes, including EEC syndrome, Limb-mammary syndrome, and Rapp-Hodgkin syndrome.
Diagnosis[edit | edit source]
Diagnosis of ADULT syndrome is based on clinical evaluation, family history, and genetic testing. Genetic testing can confirm the presence of mutations in the TP63 gene. Differential diagnosis should consider other ectodermal dysplasia syndromes with overlapping features.
Management[edit | edit source]
Management of ADULT syndrome is symptomatic and supportive. It may involve:
- Dermatological Care: Management of skin symptoms, including the use of emollients and other skin care products.
- Ophthalmological Care: Treatment for lacrimal duct anomalies and dry eyes.
- Dental Care: Regular dental check-ups and interventions to address dental anomalies.
- Orthopedic Care: Management of limb malformations, which may include surgical interventions.
Prognosis[edit | edit source]
The prognosis for individuals with ADULT syndrome varies depending on the severity of symptoms and the presence of associated complications. With appropriate management, individuals can lead relatively normal lives.
See Also[edit | edit source]
NIH genetic and rare disease info[edit source]
Acro-dermato-ungual-lacrimal-tooth syndrome is a rare disease.
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Contributors: Prab R. Tumpati, MD
