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Journal of Indian Society of Pedodontics and Preventive Dentistry Official publication of Indian Society of Pedodontics and Preventive Dentistry
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CASE REPORT
Year : 2016  |  Volume : 34  |  Issue : 2  |  Page : 192-195
 

Dental management of Rapp-Hodgkin syndrome associated with oral cleft and hypodontia


1 Department of Pedodontics and Preventive Children Dentistry, Sri Ramakrishna Dental College and Hospital, Coimbatore, Tamil Nadu, India
2 Department of Prosthodontics, Sri Ramakrishna Dental College and Hospital, Coimbatore, Tamil Nadu, India

Date of Web Publication14-Apr-2016

Correspondence Address:
Dr. Shanmugasundaram Karthikeyani
552, West Lokamanya Street, R.S. Puram, Coimbatore - 641 002, Tamil Nadu
India
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Source of Support: None, Conflict of Interest: None


DOI: 10.4103/0970-4388.180453

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   Abstract 

Rapp-Hodgkin syndrome (RHS) is a rare type of autosomal dominant disorder characterized by association of ectodermal dysplasia (ED) with cleft lip/palate. The main features include dry, brittle hair with alopecia in adulthood, dental anomalies (hypodontia, microdontia with delayed eruption, fissured tongue, and retruded maxilla), hypohidrosis, dysplastic nails, and clefting. Palmar-plantar keratoderma is seen frequently. RHS has signs and symptoms that overlap considerably with those of ankyloblepharon-ED-clefting syndrome and ectrodactyly-ED-clefting syndrome. This manuscript discusses a case of RHS, one of the four members in three generations who had ED with variable degree of involvement of hair, teeth, nail, and sweat glands.


Keywords: Cleft lip and palate, ectodermal dysplasia, Rapp-Hodgkin syndrome


How to cite this article:
Karthikeyani S, Thirumurthy VR, Yuvaraja BA. Dental management of Rapp-Hodgkin syndrome associated with oral cleft and hypodontia. J Indian Soc Pedod Prev Dent 2016;34:192-5

How to cite this URL:
Karthikeyani S, Thirumurthy VR, Yuvaraja BA. Dental management of Rapp-Hodgkin syndrome associated with oral cleft and hypodontia. J Indian Soc Pedod Prev Dent [serial online] 2016 [cited 2019 Apr 21];34:192-5. Available from: http://www.jisppd.com/text.asp?2016/34/2/192/180453



   Introduction Top


Ectodermal dysplasia (ED) is a large, heterogeneous group of inherited disorders characterized by defective development of 2 or more tissues derived from the ectoderm such as hair, teeth, nails and eccrine glands. [1] Thurnam reported the first case, [2] but the term ED was coined by Weech. [3] To date, more than 192 distinct disorders have been described and numerous classifications exist. The current one divides ED into pure ED and ED syndromes - the former presents only ectodermal defects and the later presents ectodermal defects with other anomalies. Several ED syndromes manifest with midfacial defects, mainly cleft lip and palate (CL/CP). The three commonly recognized entities being ectrodactyly-ED-clefting (EEC) syndrome, ankyloblepharon-ED-clefting (AEC)/Hay-Wells syndrome and Rapp-Hodgkin syndrome (RHS). [1]

RHS was first described over 30 years ago in an affected mother, son and daughter with a combination of anhidrotic ED and CL/CP. [4] RHS is a rare autosomal dominant disorder with <80 cases reported in literature. It is a discrete clinical entity with Online Mendelian Inheritance in Man number 129,400. [5] The characteristic features of this syndrome, summarized by Witkop et al., are stiff, sparse hair with the appearance of steel wool, sparse eyebrows and lashes, CP, the absence of uvula and lacrimal punctae, hypodontia, hypoplastic enamel, epiphora, ectropion, photophobia, hypoplastic dermatoglyphics and a decreased number of sweat glands. The oral manifestations include small teeth with enamel defects, missing teeth, multiple caries, delayed eruption, tooth shape anomaly and reduced production of saliva. [6] This manuscript presents the general features of RHS and its dental rehabilitation.


   Case Report Top


An 11-year-old male patient reported to Sri Ramakrishna Dental College with dental pain. Born full-term after an uneventful pregnancy, he was the second of three children. Parents had consanguineous marriage.

The child had dry scaly skin and baldness with patches of hair on the scalp [Figure 1]. He had facial dysmorphism with widely set eyes, deformed nose, hypoplastic ears, pronounced midfacial hypoplasia and an open mouth posture [Figure 2].
Figure 1: Baldness with patches of hair on scalp

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Figure 2: Facial dysmorphism

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The patient had CL/CP which was corrected surgically. Oral examination revealed partial anodontia, hypoplastic teeth, delayed eruption and complete cross bite of maxillary teeth [Figure 3].
Figure 3: Partial anodontia with retrognathic maxilla

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A positive family history was noted with maternal grandmother, mother and 2 siblings showing abnormalities of hair, teeth and skin. The pedigree of the patient is shown [Figure 4].
Figure 4: Family pedigree

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Panoramic radiograph showed congenitally missing permanent maxillary and mandibular incisors [Figure 5]. Cephalometric analysis suggested Class III relation with retrognathic maxilla and normal mandible [Figure 6].
Figure 5: Orthopantomograph

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Figure 6: Lateral cephalogram showing Class III profile

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A multidisciplinary approach was planned. Treatment started with oral hygiene instructions and diet counseling as the patient had widespread caries. Pit and fissure sealant (Clinpro sealant, 3M Espe, USA) was applied on the permanent maxillary right first molar. Root stumps and grossly decayed teeth were extracted. Glass ionomer cement restorations (GC Corporation, Tokyo, Japan) were done on both permanent maxillary and mandibular first molars. Endodontic treatment was done and stainless steel crowns (3M Espe, USA) were made on the primary maxillary right second molar and primary mandibular left second and right first and second molars.

Prosthodontic management was planned after orthodontic consultation. Maxillary and mandibular impressions were made. Removable prosthesis was fabricated for the upper arch and a splint was incorporated with the lower arch prosthesis [Figure 7] for restoring the vertical dimension and for relieving the pressure of the mandible on the maxilla. Orthopedic and orthodontic treatment would be planned after eruption of other permanent teeth followed by secondary bone grafting and fixed prosthesis.
Figure 7: Maxillary and mandibular prosthesis

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   Discussion Top


RHS is categorized under the group of disorders with ED and clefting. The overall clinical findings of this patient support the diagnosis of RHS. Of the areas particularly affected-hair, nails, teeth, palate and sweat glands - two most distinctive features that differentiate RHS from other related syndromes are pili torti and CP. [6] Specialized tests for RHS include skin biopsy to reveal abnormal thinning of epidermis and absence of sweat glands and a scanning electron microscope study of hair to demonstrate abnormalities such as Pili canaliculi (irregular canals running the length of the hair) and Pili torti (irregular thickening of the outer root sheath of the hair, with the flattening and rotation of hair shafts). [7] RHS displays some clinical overlap with EEC and AEC. Though recent genetic and molecular studies have shown that they are all associated with mutations in the TP63 gene, [1] RHS is differentiated from others by key clinical features. EEC syndrome shows abnormal development of median rays in the hands and feet and AEC syndrome presents with a collodion-like membrane at birth and ankyloblepharon filiforme adenatum - strands of skin between the eyelids. [8],[9]

Dental and general findings similar to those in the literature were noted in our patient. Lateral cephalometric analysis showed midfacial hypoplasia to be a feature of RHS. [10] This is a very important finding as the assessment of current and proposed orofacial development affects the dental treatment plan.

Dental treatment poses a challenge in these patients. Pediatricians, surgeons, dermatologists, audiologists, dental specialists and ophthalmologists are needed to systematically and comprehensively plan the treatment. Psychological aspect plays a major role in managing children, more so in those with anomalies as it causes severe functional and esthetic problems. Initially, the child was shy and anxious. Effective communication helped in developing a rapport with him. Timely intervention minimized the adverse aesthetic and functional effects and transformed his personality. Removable prostheses are preferred over fixed prosthodontic approaches considering the continuing growth of jaws in children.

Long-term follow-up is needed for modification or replacement of prosthesis. With the completion of orthodontic treatment and secondary bone grafting, implants or fixed prosthetic rehabilitation can be done.


   Conclusion Top


ED is a very large group of diseases, and we present an unusual case of ED with CL/CP. The focus of our treatment was to restore the function and esthetics. However, this should not underestimate the importance of prevention. Age and psychological aspect governed our treatment.

Declaration of patient consent

The authors certify that they have obtained all appropriate patient consent forms. In the form the patient(s) has/have given his/her/their consent for his/her/their images and other clinical information to be reported in the journal. The patients understand that their names and initials will not be published and due efforts will be made to conceal their identity, but anonymity cannot be guaranteed.

Financial support and sponsorship

Nil.

Conflicts of interest

There are no conflicts of interest.

 
   References Top

1.
Shah KN. Available from: http://www.chop.edu/doctors/shah_kara_n.htm.  Back to cited text no. 1
    
2.
Thurnam J. Two cases in which the skin, hair and teeth were imperfectly developed. Proc R Med Chir Soc Lond 1848;31:71-81.  Back to cited text no. 2
    
3.
Weech AA. Hereditary ectodermal dysplasia. Am J Dis Child 1929;37:766.  Back to cited text no. 3
    
4.
Rapp RS, Hodgkin WE. Anhidrotic ectodermal dysplasia: autosomal dominant inheritance with palate and lip anomalies. J Med Genet 1968;5:269-72.  Back to cited text no. 4
    
5.
Kantaputra PN, Hamada T, Kumchai T, McGrath JA. Heterozygous mutation in the SAM domain of p63 underlies Rapp-Hodgkin ectodermal dysplasia. J Dent Res 2003;82:433-7.  Back to cited text no. 5
    
6.
Witkop CJ Jr, Brearley LJ, Gentry WC Jr. Hypoplastic enamel, onycholysis, and hypohidrosis inherited as an autosomal dominant trait. A review of ectodermal dysplasia syndromes. Oral Surg Oral Med Oral Pathol 1975;39:71-86.  Back to cited text no. 6
    
7.
Maruyama T, Toyoda M, Kanei A, Morohashi M. Pathogenesis in pili torti: Morphological study. J Dermatol Sci 1994;7 Supplement 1:S5-12.  Back to cited text no. 7
    
8.
Mallory SB, Miller CI, Hashimoto K, Shwayder T, El-Hoshy K, Horton S, et al. What is this syndrome? Ectrodactyly, ectodermal dysplasia and cleft palate (EEC) syndrome. Pediatr Dermatol 1997;14:239.  Back to cited text no. 8
    
9.
Hay RJ, Wells RS. The syndrome of ankyloblepharon, ectodermal defects and cleft lip and palate: An autosomal dominant condition. Br J Dermatol 1976;94:277-89.  Back to cited text no. 9
    
10.
Hart TC, Kyrkanides S. Cephalometric analysis of Rapp-Hodgkin syndrome. J Med Genet 1994;31:758-60.  Back to cited text no. 10
    


    Figures

  [Figure 1], [Figure 2], [Figure 3], [Figure 4], [Figure 5], [Figure 6], [Figure 7]



 

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