DermKnowledgeBASE: Rapp hodgkin Syndrome

Rapp hodgkin Syndrome

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The text is the summary of recent articles on Rapp hodgkin Syndrome at 75 thresold from National Library of Medicine (NLM). This information is subject to NCBI's Disclaimer and Copyright notice.


The mother lacked ectrodactyly, indicating a diagnosis of RHS, whereas the girl presented with all three major features (ectrodactyly, ectodermal dysplasia, clefting) and different minor features (including small and brittle nails, and recurrent conjunctivitis believed to be because of stenotic and blocked nasolacrimal ducts) of the EEC3 syndrome [1]. We report two cases of Rapp-Hodgkin ED with refractory Scalp Erosions that markedly improved with the use of potent topical Steroids [2]. Individuals typically have varying combinations of ectodermal dysplasia (subjective hypohidrosis, Nail dysplasia, sparse Hair, tooth abnormalities), cleft lip/palate, split-hand/foot malformation/syndactyly, lacrimal duct obstruction, Hypopigmentation, and hypoplastic breasts and/or nipples [3]. Hypodontia of several teeth associated with ectodermal dysplasia, as in this case involving Rapp-Hodgkin syndrome, causes several functional and esthetic alterations [4]. A comprehensive overview of the dermatological signs and symptoms in these syndromes was generated from the database of the Ectodermal Dysplasia Network Germany, the clinical findings in the patients seen in our department and an extensive review of the literature [5].

P63 is directly associated with a cis-regulatory element on chromosome 7q21 that controls the expression of DLX5 and DLX6 genes which are involved in craniofacial abnormalities and ectrodactyly or split hand/foot malformation (SHFM) [6]. We report a 3-month-old boy ascertained for congenital Scalp Erosion and mild features of ectodermal dysplasia [7]. All these disorders include combinations of ectodermal Dysplasia, orofacial clefting and limb malformations in variable severity [8]. A patient cohort affected by AEC syndrome was evaluated during International Research Symposium supported by the National Foundation for Ectodermal Dysplasias [9]. While AEC and Rapp-Hodgkin had been thought to be clinically distinct entities, the elucidation of their molecular etiology confirmed that they are a clinical continuum as opposed to distinct disorders [10].

TP63 (also known as TP73L) Mutations have been identified in several such syndromes characterized by Autosomal Dominant transmission and various combinations of ectodermal dysplasia, limb malformations and orofacial clefting [11]. We report on a family with four affected Adult females presenting with Rapp-Hodgkin syndrome (RHS), an Autosomal dominant clinical entity that associates anhidrotic ectodermal dysplasia with cleft Lip and palate [12]. Features between RHS and eec syndrome (ectrodactyly, ectodermal Dysplasia and cleft lip/palate) have led to the recent identification of Mutations in the TP63 gene, located on 3q27, in this condition [13]. In this report, we describe a 7-year-old girl, born to clinically normal parents, with ankyloblepharon, cleft lip/palate and Hair abnormalities, features resembling the Autosomal dominant disorder, ankyloblepharon-ectodermal dysplasia-clefting (AEC) syndrome, which results from Mutations in the sterile-alpha motif domain of the gene encoding the transcription factor, p63 [14]. Moreover, two of her paternal cousins were discovered to have similar congenital ectodermal anomalies, raising the alternative possibility of an Autosomal recessive pattern of inheritance [15].

RHS has obvious phenotypic overlap with other ectodermal dysplasia-clefting syndromes (EDCS), such as ectrodactyly-ectodermal dysplasia-clefting syndrome (EEC) and ankyloblepharon-ectodermal dysplasia-clefting syndrome (AEC), all of which show MCT [16]. The father and two other sisters of the patient had normal facial features, but had short stature and had dental anomalies, the latter suggestive of ectodermal dysplasia [17]. The objective of this study was to determine if the pronounced midfacial hypoplasia is the result of a true tissue hypoplasia or displacement of midfacial tissues [18]. To assess the midfacial hypoplasia, lateral cephalometric analysis was performed on lateral headplates [19]. Results of the cephalometric analysis suggest that the midfacial hypoplasia results from both a deficiency and a displacement of the maxilla [20].

Rapp-Hodgkin syndrome is an autosomal dominant condition characterized by Cleft Lip And Palate, peculiar craniofacial features, and ectodermal dysplasia, consisting of abnormalities of Teeth, hair, nails and sweating [21]. A Child affected by ectodermal dysplasia associated with clefting, ankyloblepharon, severe Scalp Dermatitis, and the characteristic Rapp-Hodgkin facies is reported [22]. Some of the pili canaliculi had two canals (pili bicanaliculi), and the cross section for scanning electron Microscopy had a quadrangular aspect [23]. The main clinical findings in different patients ranged from isolated trichodysplasia (sparse, brittle, and dry hair) to ectodermal Dysplasia (1-2-3-4), Cleft Palate, tear duct anomaly, and minor limb anomalies [24].

References: 1 , 2 , 3 , 4 , 5 , 6 , 7 , 8 , 9 , 10 , 11 , 12 , 13 , 14 , 15 , 16 , 17 , 18 , 19 , 20 , 21 , 22 , 23 , 24 ,

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