Adult syndrome

What is Adult syndrome?

Adult syndrome is a rare disease. It is also known as Acro-dermato-ungual-lacrimal-tooth Syndrome ADULT syndrome ELA syndrome.

Propping and Zerres (1993) reported seven individuals from three generations of a family. They all had a condition resembling EEC syndrome, but none had a cleft lip or palate and there were other differences. Hair was sparse and thin with progressive loss in the thirties in both males and females. The nipples and breasts were hypoplastic. Intensive freckling was characteristic and exfoliative dermatitis of the fingers and toes seemed to be a feature. There was both primary hypodontia and secondary loss of permanent teeth. Hand and foot anomalies were variable with cutaneous and osseous syndactyly, or a split hand appearance. Nail dysplasia was characteristic. Verrucous papillomas on the lips and oral mucosa were recorded by Mansur et al., (2006). Propping et al., (2000) mapped the gene in this family to 3q27, in the same region as the gene for limb mammary syndrome and EEC (p63) syndrome (qv).
Amiel et al., (2001) reported a missense mutation in the p63 gene in an isolated case with Adult syndrome. A further mutation in the p63 gene was studied by Duijf et al., (2002).
Brunner et al., (2002) provide a good review of phenotype/genotype correlation in p63 mutations.
Van Bokhoven and Brunner (2002) provide a good review of gene function and various mutations in different disorders caused by p63 mutations. Chan et al., (2004) found a p63 mutation in a child, who had what they thought was EEC without clefting. On looking through the literature they found that the Propping and Zerres (1993) familly (see above) had the same R298Q mutation that their patient had, and had been reported under the title of Adult syndrome. On re-examination of the patient, he was found to have an exfoliative dermatitis of the hands and feet, and dry skin over the knees and shins. In addition there was freckling on his face and shoulders. His one nipple was hypoplastic and he had missing secondary dentition. A patient with a p63 mutation, who had features of the Ulnar-mammary syndrome (a short, stiff, curved 5th finger and an imperforate anus) was reported by Slavotinek et al., (2005). A family with features of both EEC and ADULT had a R280C mutation (Kier-Swiatecka et al., 2007). These authors suggest that the overlap is too great for there to be a useful distinction and that both conditions are but manifestations of TP63 mutations. Prontera et al., (2011) reported a patient with the ADULT phenotype (and a TP63 mutation) with a cleft palate again suggesting overlap with EEC and limb-mammary syndrome. They wish to combine the 3 under ELA syndrome
Three new, unrelated patients, all with mutations of arginine 298, were reported by Rinne et al., (2006). Ectodermal features involving nails, teeth (hypo- and oligodontia) and skin (dry and thin) were present in all. Photosensitivity and hypopigmentation was seen in 1 family. Only 1 of the 3 families showed freckling. One person had a squamous cell carcinoma.
A father-son pair with an ADULT-like syndrome was reported by Bedeschi et al., (2006). There was no freckling and there was no mammary gland abnormality. The rest fitted, but no mutations were found in P63.
Reisler et al., (2006) reported a mother and daughter with an R227Q mutation in exon 6 of p63. This mutation is usually associated with EEC syndrome. Additional features were, hyperextensible distal interphalangeal joints, bilateral thumb duplication, urinary reflux, conductive hearing loss and a patch of hair in the midline of the neck.
Whittington et al. (2016) reported a familial case of Adult syndrome in a daughter, mother, and son and provided a review of the clinical characteristics of this syndrome.. The three individuals had abnormal hair, nails, and teeth. The mother and the son had been diagnosed with hidrotic ectodermal dysplasia. The proband was a 15-year-old girl with an eruption that was biopsied and diagnosed as lymphomatoid papulosis. Her past medical history included obstructed tear ducts in infancy. She had extensive tan macules on the face, back, chest, arms, and legs, a beak-shaped nose and several absent teeth, short nail plates and absent breasts with hypoplastic nipples. Her fingertips appeared dry, with mild desquamation.

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* This information is courtesy of the L M D.

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What gene changes cause Adult syndrome?

The syndrome is inherited in the following inheritance pattern/s:

Autosomal Dominant - In the case of autosomal dominant inheritance, just one parent is the carrier of the gene mutation, and they have a 50% chance of passing it onto each of their children. Syndromes inherited in an autosomal dominant inheritance are caused by just one copy of the gene mutation.


In some cases, a genetic syndrome may be the result of a de-novo mutation and the first case in a family. In this case, this is a new gene mutation that occurs during the reproductive process.

OMIM Number - 103285 (please check the OMIM page for updated information)

The syndrome can be caused by mutations in the following gene/s location/s:
TP63 - 3q28

What are the main symptoms of Adult syndrome?

The typical symptoms of the syndrome are:
Autosomal dominant inheritance, Cutaneous photosensitivity, Melanocytic nevus, Thin skin, Toe syndactyly, Oligodontia, Abnormality of dental morphology, Nail pits, Nasolacrimal duct obstruction, Microdontia, Dry skin, Split foot, Ectodermal dysplasia, Eczema, Split hand, Conjunctivitis, Fair hair, Finger syndactyly, Fine hair, Dermal atrophy, Skin ulcer, Scalp hair loss, Sparse axillary hair, Sparse scalp hair, Premature loss of permanent teeth, Wide intermamillary distance, Freckling, Prominent nasal bridge, Hypodontia, Hypoplastic nipples, Aplasia/Hypoplasia of the nipples, Oral cleft, Abnormal fingernail morphology, Abnormality of the eye, Alopecia of scalp, Absent nipple, Adermatoglyphia, Breast hypoplasia, Breast aplasia, Abnormal toenail morphology

How does someone get tested for Adult syndrome?

The initial testing for Adult syndrome can begin with facial genetic analysis screening, through the FDNA Telehealth telegenetics platform, which can identify the key markers of the syndrome and outline the type of genetic testing needed. A consultation with a genetic counselor and then a geneticist will follow.

Based on this clinical consultation with a geneticist, the different options for genetic testing will be shared and consent will be sought for further testing.

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