ADULT Syndrome

At a glance

ADULT is an acronym that stands for AcroDermato-Ungual-Lacrimal-Tooth. The main findings are hypodontia, very brittle and/or premature loss of permanent teeth, and ectrodactyly (split hands and feet). There is no evident impairment of general health in patients with ADULT Syndrome.

Synonym

Propping-Zerres Syndrome.

N.B.: ☞AEC Syndrome (Ankyloblepharon-Ectodermal defects, Cleft lip/palate Syndrome; Hay Wells Syndrome), ☞Ectrodactyly-Ectodermal Dysplasia Clefting Syndrome (EEC Syndrome), Limb-Mammary Syndrome, Rapp-Hodgkin Hypohidrotic Ectodermal Dysplasia, and Split-hand/foot Malformation Type 4 are all caused by TP63 mutations and considered allelic disorders of ADULT Syndrome (see also “Other conditions to be considered”).

Incidence

Probably less than thirty cases have been described.

Genetic inheritance

Autosomal dominant with variable expression. The defect seems to be caused by missense mutations in the tumor protein TP63 gene, which has been mapped to chromosome 3q28.

Clinical aspects

Some of the main findings are due to ectodermal dysplasia with hypodontia and/or premature loss of permanent teeth, sparse, fair hair (alopecia areata, frontal baldness), dry, photosensitive and atrophic skin, excessive freckling, adermatoglyphia (absent “finger prints”), and onychodysplasia. Hypo- or athelia or hypo- or aplastic breasts (glands and nipples) may be present uni- or bilaterally. Absence or obstruction of the nasolacrimal ducts with chronic conjunctivitis is common. Ectrodactyly (split hands or feet) is not a constant, although striking feature that can affect only one or all limbs and may be associated with oligo- or polydactyly, and dermal and/or osseous syndactyly.

Precautions before anesthesia

There is no evident impairment of general health in patients with ADULT Syndrome, although patients have been described with imperforate anus, mid-face hypoplasia, clear cell renal carcinoma, squamous cell carcinoma of the oral mucosa, or autoimmune thyroiditis and paroxysmal supraventricular tachycardia.

Anesthetic considerations

The teeth are very brittle and may easily be broken or avulsed during direct laryngoscopy. The skin is often thin and atrophic, thus proper measures to avoid pressure sores should be taken. Peripheral vascular access may be challenging due to the malformations. Proper lubrication of the eyes and taping of the eyelids is recommended to avoid corneal erosions or ulcerations.

Pharmacological implications

There are no specific pharmacologic implications related to this syndrome.

Other conditions to be considered

• Absence of Ulna and Fibula with Severe Limb Deficit (Al-Awadi-Teebi-Farag Syndrome; Al-Awadi-Raas-Rothschild Syndrome; Limb/Pelvis-Hypoplasia/Aplasia Syndrome; Schi­nzel Phocomelia Syndrome): Autosomal recessive inherited disorder with severe deficiency of all four limbs, including absent feet, hypoplastic femora, absent ulnae, absent fibulae, thoracic dystrophy, and pelvic deformity.

• ☞AEC Syndrome (Hay-Wells Syndrome): AEC is an acronym that stands for Ankyloblepharon-...