Rapp-Hodgkin Syndrome: Clinical and Dental Findings

2009 ◽  
Vol 34 (1) ◽  
pp. 71-75 ◽  
Author(s):  
Gul Tosun ◽  
Ulku Elbay
Keyword(s):  
Cleft Palate ◽  
Ectodermal Dysplasia ◽  
Dental Treatment ◽  
Sweat Glands ◽  
Oral Manifestations ◽  
Steel Wool ◽  
Rare Form ◽  
Dental Rehabilitation ◽  
Delayed Eruption ◽  
Sparse Hair

Rapp-Hodgkin syndrome is a rare form of ectodermal dysplasia involving the hair, eyes, sweat glands, nails,teeth and palate. This syndrome is characterized by stiff, sparse hair with the appearance of steel wool,sparse eyebrows and lashes, cleft palate, absence of lacrimal punctae, epiphora, a decreased number of sweat glands, and dystrophic nails. Cleft palate, hypodontia, abnormal tooth shape, multiple caries, delayed eruption of teeth are the main oral manifestations. In this paper we describe the clinical and dental findings of this syndrome in a 7 year old girl referred to the dental clinic because of severe tooth ache. The dental treatment included root canal treatment, composite restorations, extractions and removable prostheses. This paper highlights features of Rapp-Hodgkin Syndrome and its dental rehabilitation.

scholarly journals Prosthetic rehabilitation of a hypohidrotic ectodermal dysplasia patient: A case report

2021 ◽  
Vol 11 (Suppl. 1) ◽  
pp. 292-298
Author(s):  
Dersim Gökçe ◽  
Emrah Ayna ◽  
Zelal Seyfioğlu Polat
Keyword(s):  
Case Report ◽  
Ectodermal Dysplasia ◽  
Dental Treatment ◽  
Sweat Glands ◽  
Prosthetic Rehabilitation ◽  
Hypohidrotic Ectodermal Dysplasia ◽  
Invasive Treatment ◽  
Homozygous Carrier ◽  
School Of Dentistry ◽  
Sparse Hair

Aim: Ectodermal dysplasia is a rare hereditary disease that arises from a developmental disorder of 2 or more ectoderm-derived tissues. Ectodermal dysplasia is seen in 3 different types: anhidrotic, hypohidrotic, and hidrotic. Its anhidrotic and hypohidrotic types are the most common. This study presents the intraoral findings and dental treatment approach of a case diagnosed with hidrotic ectodermal dysplasia that demonstrates the typical characteristics of the disease, such as anodontia, hypohydrosis (reduced sweating), hypotrichosis (sparse hair), and loss of vertical dimension. Methodology: A 5-year-old male patient presented to the clinic of the Prosthetic Dental Treatment Department of the School of Dentistry at Dicle University on 25.10.2020 with complaint of missing teeth. A genetic analysis conducted in 2016 showed that he was a homozygous carrier of the p.Cys148Arg (c.442 T>C) mutation on the 5th exon of the ectodysplasin-A receptor (EDAR) gene. The mutation detected in the patient was associated with ectodermal dysplasia. An extraoral clinical examination revealed sparse hair, eyebrows, and eyelashes; soft, smooth, and dry skin; thin, linear wrinkles around the eyes and the lips; drooping, thickened lips; a sunken nose; fractured nails; hyperthermia due to lack of sweat glands; hyperkeratosis in the skin and soles of the feet; 2 nipples on one side of the chest; and reduced vertical facial height. An intraoral examination revealed anodontia; there were no teeth on the maxilla or the mandible and no radiographically identified tooth germ. Dry mouth due to a lack of sufficient saliva was another finding. Conclusion: In this case report, in the presence of anodontia, a removable total prosthesis, which is a non-invasive treatment option, was applied. Production of endosseous implants was postponed for a later time following the patient’s growth and development.   How to cite this article: Gökçe D, Ayna E, Seyfioğlu Polat Z. Prosthetic rehabilitation of a hypohidrotic ectodermal dysplasia patient: A case report. Int Dent Res 2021;11(Suppl.1):292-8. https://doi.org/10.5577/intdentres.2021.vol11.suppl1.43   Linguistic Revision: The English in this manuscript has been checked by at least two professional editors, both native speakers of English.

Persistent nasal crusting due to hypohidrotic ectodermal dysplasia

1996 ◽  
Vol 110 (4) ◽  
pp. 379-382 ◽  
Author(s):  
A. H. Al-Jassim ◽  
A. C. Swift
Keyword(s):  
Respiratory Tract ◽  
Ectodermal Dysplasia ◽  
Sweat Glands ◽  
Specific Reference ◽  
Nasal Discharge ◽  
Upper Respiratory Tract ◽  
Hypohidrotic Ectodermal Dysplasia ◽  
Sparse Hair ◽  
Tract Infections ◽  
Clinical Awareness

AbstractHypohidrotic ectodermal dysplasia is an hereditary condition of the ectodermal tissues which may escape recognition because of lack of clinical awareness due to its rarity. Otorhinolaryngological features of this syndrome include chronic respiratory tract infections, persistent foul-smelling nasal discharge and crust formation, and hearing problems.The condition is usually an X-linked recessive disease affecting mainly ectodermal tissue, although nonectodermal tissue may also be affected. The notation ‘ectodermal’ is used because ectodermal tissues are always involved. The syndrome is characterized by complete or partial absence of sweat glands, sparse hair growth, absent or deformed peg teeth, sparse sebaceous glands, occasional absence of salivary and lacrimal glands, scanty mucous glands and deficient cilia.We describe two children with this disorder with specific reference to the effect on the upper respiratory tract.

scholarly journals Paradoxical hyperhidrosis in a patient with ectodermal dysplasia and immunodeficiency

2016 ◽  
Vol 3 (2) ◽  
pp. 61-66
Author(s):  
Amiirah Aujnarain ◽  
Catherine Chung ◽  
Julia Upton
Keyword(s):  
Clinical Features ◽  
Ectodermal Dysplasia ◽  
Clinical Phenotype ◽  
Sweat Glands ◽  
Dental Abnormalities ◽  
Anhidrotic Ectodermal Dysplasia ◽  
Sparse Hair ◽  
Immune Defects ◽  
Eccrine Sweat

Anhidrotic Ectodermal Dysplasia with Immunodeficiency (EDA-ID) is a pleotropic disorder characterized by dental abnormalities, eccrine sweat dysgenesis, specific facies, fine sparse hair, pale wrinkled skin, and variable immune defects. The condition is caused by hypomorphic mutations (NF) κB Essential modifier protein (NEMO) gene. The clinical phenotype between patients is heterogenous and variable. Here we report a patient with a known NEMO mutation presenting with clinical features consistent with EDA-ID, except for paradoxical hyperhidrosis despite having a biopsy-proven reduced number of sweat glands. Statement of novelty: We report a patient with X-linked EDA-ID due to NEMO deficiency who presented with marked diaphoresis despite biopsy-proven reduced sweat glands and ectodermal dysplasia.

scholarly journals Hypohidrotic ectodermal dysplasia - a case report / Hipohidrotska ektodermalna displazija – prikaz slučaja

2011 ◽  
Vol 3 (3) ◽  
pp. 109-112
Author(s):  
Svetlana Popadić ◽  
Andreja Vujanac ◽  
Biljana Arsov ◽  
Petar Ivanovski ◽  
Miloš Nikolić
Keyword(s):  
Case Report ◽  
Growth And Development ◽  
Ectodermal Dysplasia ◽  
Abnormal Development ◽  
Sweat Glands ◽  
Facial Features ◽  
Palmoplantar Keratoderma ◽  
Hypohidrotic Ectodermal Dysplasia ◽  
Ectodermal Dysplasias ◽  
Sparse Hair

Abstract Ectodermal dysplasias are a large group of disorders characterized by developmental dystrophies of one or more ectodermal structures. Hypohidrotic ectodermal dysplasia is a rare genodermatosis associated with abnormal development of sweat glands, teeth, and hair. Its incidence is 1:100.000 newborns. The full expression of X-recessive forms are only seen in males, while female heterozygotes are moderately or very slightly affected. The disease is characterized by sparse hair, oligodontia, and reduced or absent sweeting, light hair, distinctive facial features, palmoplantar keratoderma. We report an 11-year-old boy with hypohidrotic ectodermal dysplasia. Despite extensive skin, teeth and hair manifestations, his physical and psychomotor growth and development were normal.

scholarly journals Noninvasive Multi-Disciplinary Management of Ectodermal Dysplasia with Hyposalivation – A Case Report

2021 ◽  
Vol 14 (4) ◽  
pp. 1409-1412
Author(s):  
Sana Alhamed
Keyword(s):  
Ectodermal Dysplasia ◽  
Dental Treatment ◽  
Treatment Plan ◽  
Well Being ◽  
Management Plan ◽  
Child Growth ◽  
Sweat Glands ◽  
Interdisciplinary Management ◽  
Early Assessment ◽  
Facial Height

Ectodermal dysplasia (ED) is a rare genetic condition with nearly 200 documented traits. As the name states, ED targets tissues derived from ectoderms, such as hair, skin, nails, sweat glands, and teeth. Other orofacial structures might be affected, such as salivary glands and hard palate. Lack of teeth and diminished facial height can impact negatively on child growth and psychological well-being. Therefore, assessment and an interdisciplinary management plan of orofacial components of ED children should be installed as early as possible. Here we report an early assessment and multi-disciplinary management of ED child’s orofacial structures, which allow restoration of facial height and dental function and saliva reduction by the least invasive restorative approach in the form of the composite build-up of microdont and overdentures. It also highlights the importance of periodic evaluation of growth and treatment plan adjustment as an integral part of the transitional management until the age of a definite dental treatment.

Possibilities and prospects in early orthopaedic rehabilitation of children with ectodermal dysplasia and congenital edentulism. clinical features and practical experience

2020 ◽  
pp. 40-50
Author(s):  
V.G. Galonsky ◽  
N.V. Tarasova ◽  
E.S. Surdo ◽  
A.V. Gradoboev
Keyword(s):  
Preschool Children ◽  
Clinical Features ◽  
Ectodermal Dysplasia ◽  
Dental Treatment ◽  
Practical Experience ◽  
Dental Clinic ◽  
Pedagogical Tools ◽  
Psychological Types ◽  
Clinical Cases

The article is devoted to the issue of early orthopaedic rehabilitation of youngest preschool children with ectodermal dysplasia and congenital edentulism. The essence and details of children’s psychophysiological development at this age are revealed, as well as main pedagogical tools making it possible to adapt the children to the specific environment of the dental clinic and motivate them for undergoing long-term multistage orthopaedic dental treatment. Clinical approaches and peculiarities in the dentist’s work with children of different psychological types as well as particular aspects in their adaptation to removable dentures are described. Two clinical cases of effective orthopaedic rehabilitation of 3-years-old children with ectodermal dysplasia and congenital edentulism using full removable lamellar dentures.

Full Mouth Fixed Rehabilitation of a Young Adult with Ectodermal Dysplasia: Making Mountain Out of a Molehill in The Literal Sense

2020 ◽  
Author(s):  
Vaishnavi Rajaraman
Keyword(s):  
Ectodermal Dysplasia ◽  
Treatment Plan ◽  
Sweat Glands ◽  
Congenital Diseases ◽  
Facial Esthetics ◽  
Key Factor ◽  
Full Mouth Rehabilitation ◽  
Fixed Prosthesis ◽  
Multiple Abnormalities ◽  
Hereditary Condition

The personality of an individual is often judged by his looks. A beautiful smile brings immense pleasure, not only to the viewer but also to the wearer of the smile. Time and again in dentistry, esthetics has been the prime area of focus. Prosthodontic rehabilitation also involves esthetics as its key factor, which is challenging especially in patients with congenital diseases or syndromes. Ectodermal dysplasia is one such hereditary condition associated with failure of the development of ectoderm in the embryonic stage and can cause multiple abnormalities. The ectodermal structures like skin, nails, hair, sweat glands, and teeth are particularly affected. The management of ectodermal dysplasia is quite complex and multidisciplinary owing to the abnormal morphology in craniofacial structures, a wide array of dentofacial defects, and age of the affected individuals, as most of them are very young when they report for or are evaluated for treatment. The deciduous as well as the permanent dentition in these patients may present with anodontia, hypodontia or oligodontia or combination of these. Hypodontia is one of the most common intraoral finding among these scenarios. Therefore, the affected patients obviously require absolute attention towards prosthodontic treatments throughout their developmental years till their adulthood. This report presents a case of an adult diagnosed with having ectodermal dysplasia with hypodontia. By appropriate modification and customization, the prosthodontic management was meticulously planned for the young patient which involved a full mouth rehabilitation with tooth supported fixed prosthesis in the maxillary and mandibular arch. The devised treatment plan had a key impact on the psychological, the masticatory function, speech and facial esthetics of the patient.

scholarly journals A Framework for Equity Access to Primary Dental Care

2020 ◽  
Vol 25 (9) ◽  
pp. 3669-3676
Author(s):  
Denise Silveira Antunes ◽  
Sudeshni Naidoo ◽  
Neil Myburgh ◽  
Juliana Balbinot Hilgert ◽  
Paul Douglas Fisher ◽  
...  
Keyword(s):  
Dental Care ◽  
Dental Treatment ◽  
Waiting Times ◽  
Face Validity ◽  
Oral Disease ◽  
Care Practice ◽  
Dental Services ◽  
Dental Staff ◽  
Dental Rehabilitation ◽  
Oral Disease Prevention

Abstract The objective of this study was to demonstrate face validity with a novel resource allocation framework designed to maximize equity into dental booking systems. The study was carried out in 2014. Eleven experts in primary dental care practice in Southern Brazil participated, using a three-round consensus group technique. First, the experts reached consensus on the items to be included in a 5-level diagnostic scale. They identified 21 clinical conditions and categorized them according to the oral health intervention required. Then, they described workload and activity standards for dental staff to carry out health promotion, oral disease prevention, dental treatment, dental rehabilitation, and urgent dental care. Finally, they agreed upon a set of wait times for primary dental care, establishing maximum waits from 2 to 365 days, according to the diagnostic classification. The framework demonstrated potential ability to promote more equitable access to primary dental services, since equal diagnostic classifications share the same waiting times for the dental care they require.

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