Rapp-Hodgkin Syndrome

What is Rapp-Hodgkin syndrome?

It is a rare genetic syndrome that is also a form of ectodermal dysplasia. There are around 150 conditions within the group of ectodermal dysplasia syndromes that present with similar symptoms. The syndrome mainly affects the skin, hair, nails, teeth and sweat glands of affected individuals.

This syndrome is also known as:
Ectodermal Dysplasia, Anhidrotic, With Cleft Lip/palate RHS

What gene changes cause Rapp-Hodgkin syndrome?

Changes in the TP63 gene cause the syndrome.

It is inherited in an autosomal dominant pattern.

What are the main symptoms of Rapp-Hodgkin syndrome?

The syndrome is characterized by symptoms that affect the skin, hair, nails, teeth and sweat glands of affected individuals.

These symptoms include sparse and dry hair with alopecia (hair loss). Most individuals are also affected by an inability or reduced ability to sweat, as well as an increased sensitivity to heat.

Issues affecting the teeth include absent teeth, cone-shaped incisors and enamel that is thin or absent.

Individuals affected also have misshapen or absent nails on their fingers and toes.

Possible clinical traits/features:
Autosomal dominant inheritance

How does someone get tested for Rapp-Hodgkin syndrome?

The initial testing for Rapp-Hodgkin can begin with facial analysis screening, through the FDNA Telehealth telegenetics platform, which can identify the key markers of the syndrome and outline the need for further testing. 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.

Informations médicales sur Rapp-Hodgkin Syndrome

Rapp and Hodgkin (1968) described a mother, son and daughter with a form of ectodermal dysplasia associated with other anomalies. The main features were hypohidrosis, thin wiry hair, absent or sparse eyelashes and eyebrows, absent secondary sexual hair, oligodontia, dystrophic nails and cleft palate. The son had unilateral cleft lip. Silengo et al., (1982) described a mother and daughter with the condition. They characterised the hair abnormality as pili torti. Breslau-Siderius et al., (1991) reported four affected members from three generations of a pedigree and provided a good review of the literature. Nielson et al., (2002) reported a family where some cases had cleft palate alone and others both cleft lip and cleft palate.
Cambiaghi et al., (1994) suggested that Rapp-Hodgkin Syndrome and AEC syndrome were the same condition. The main distinguishing feature in the literature is eyelid synechiae in AEC syndrome. Bertola et al., (2004) reported 2 sporadic patients, one wth Rapp-Hodgkin and the other with AEC. Both had the I510T mutation in p63. Moerman and Fryns (1996) reported a mother with features of Rapp-Hodgkin Syndrome who had a child with EEC syndrome. It is of interest that this child had eyelid synechiae. Prontera et al., (2008) reported a child with features intermediate between Hay-Wells and Rapp-Hodgkin.
Kantaputra et al., (1998) reported a child with features of the condition who also had palmoplantar keratoderma and teeth anomalies consisting of microdontia, hypodontia, unerupted mandibular premolars. large dental pulp spaces, multiple caries, and enamel hypoplasia. There was a glossy-tongue, congenital absence of lingual frenum, and sublingual caruncles including submandibular and sublingual salivary duct openings. Kantaputra et al., (2012), reported a child with amelogenesis imperfecta. Atasu et al., (1999) reported a family where three sibs had features of Rapp-Hodgkin Syndrome. The parents were apparently unaffected, but the father had absence of incisors and first premolars with enamel hypoplasia. Two sisters also had dental anomalies.
Bougeard et al., (2003) reported mutations in the p63 gene in two cases. No clinical photographs were published. The interesting case report by Sahin et al., (2004) was of a girl with ankyloblepharon, clefting, dystrophic nails, poorly formed teeth, hypohidrosis and coarse and wiry hair. Hair microscopy showed pili torti. No p63 mutation was found and by history (non-consanguinous Turkish family) 2 cousins on fathers side were said to be smilarly affected. Kantaputra et al., (2003), reported a patient with a p63 mutation, and a mother-daughter pair (without clefting or synechiae) reported by Kannu et al., (2006) had a 1721delC in exon 14 of p63. The authors again point our the difficulty in distinguishing between Rapp-Hodgin and AEC syndromes and Clements et al., (2010) suggest that we drop the names Rapp-Hodgkin and Hay-Wells and call them AEC syndrome. Brueggemann and Bartsch *2016), reported a mother with clinical features of Rapp-Hodgkin Syndrome whose daughter had EEC3. Both had the same TP63 mutation in exon 8.

* This information is courtesy of the L M D.
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