The Acro-derma-ungual-lacrimal-tooth (ADULT) syndrome is one of the phenotypes associated with mutations in TP63.
Chromosome: 3q28
Gene: tumor protein 63 (TP63)
Inheritance: autosomal dominant
Clinical features:
(1) dry skin without erosions
(2) hair that is light-colored and fine
(3) sparse eyebrows and eyelashes
(4) nail dysplasia
(5) dental anomalies (conical teeth; small occlusal tables; hypodontia; defective enamel)
(6) decreased sweating with heat intolerance
(7) lacrimal duct atresia, which may be associated with chronic conjunctivitis and blepharitis
(8) breast and/or nipple hypoplasia
(9) excessive freckling in sun-exposed skin
(10) syndactyly of fingers and toes
(11) adermatoglyphia
(12) facial dysmorphism (elongated nose, thin kips, almond-shaped eyes)
Clinical findings may become more prominent with age.
