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

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.

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

International Dental Research ◽

10.5577/intdentres.2021.vol11.suppl1.43 ◽

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.

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Treatment strategy for patients with ectodermal dysplasia

Journal of Clinical Pediatric Dentistry ◽

10.17796/jcpd.29.2.581h744407r055r3 ◽

2005 ◽

Vol 29 (2) ◽

pp. 113-118 ◽

Cited By ~ 3

Author(s):

Jack W. Martin ◽

Nicholas Tselios ◽

Mark S. Chambers

Keyword(s):

Ectodermal Dysplasia ◽

Treatment Plan ◽

Abnormal Development ◽

Sweat Glands ◽

Clinical Report ◽

Stomatognathic System ◽

Ectodermal Dysplasias ◽

Different Types ◽

Anhidrotic Ectodermal Dysplasia ◽

Hereditary Condition

Ectodermal dysplasia (ED) is a hereditary condition characterized by abnormal development of the skin, hair, nails, sweat glands, and the stomatognathic system. There are many different types of ectodermal dysplasia of which X-linked anhidrotic ectodermal dysplasia is the most common. Multiple genes have been discovered to cause ectodermal dysplasias. With any form of ED, children may display a range of symptoms and challenging rehabilitation. This clinical report presents the treatment plan for a young patient with ED and anodontia requiring prosthetic restoration. J Clin Pediatr Dent 29(2): 113-118,2005

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Persistent nasal crusting due to hypohidrotic ectodermal dysplasia

The Journal of Laryngology & Otology ◽

10.1017/s0022215100133687 ◽

1996 ◽

Vol 110 (4) ◽

pp. 379-382 ◽

Cited By ~ 12

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.

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Should We Consider Hypohidrotic Ectodermal Dysplasia as a Possible Risk Factor for Malignant Melanoma?

Journal of Cutaneous Medicine and Surgery ◽

10.2310/7750.2007.00030 ◽

2007 ◽

Vol 11 (5) ◽

pp. 188-190 ◽

Cited By ~ 5

Author(s):

Stamatis Gregoriou ◽

Dimitris Rigopoulos ◽

Theognosia Vergou ◽

Chrysovalantis Korfitis ◽

George Menegakis ◽

...

Keyword(s):

Malignant Melanoma ◽

Ectodermal Dysplasia ◽

Case Reports ◽

Epidemiologic Study ◽

Sweat Glands ◽

Hypohidrotic Ectodermal Dysplasia ◽

Multisystem Disorder ◽

Pigmented Lesions ◽

Ectodermal Dysplasias

Background: Hypohidrotic ectodermal dysplasia (HED) is a rare multisystem disorder that typically affects hair, teeth, nails, and sweat glands in combination with abnormalities of ectodermal originated tissues. Objective: To raise the issue of whether heightened awareness is required in the follow-up of pigmented lesions in patients with HED. Methods/Results: Two patients with HED are reported. The first had a history of two malignant melanomas, whereas the second presented with a novel malignant melanoma. Conclusion: Although a prospective epidemiologic study to determine the incidence of malignant melanoma in patients with HED is virtually impossible and the probable pathogenesis warrants further investigation, these two case reports, in conjunction with other recent reports associating other ectodermal dysplasias with malignant melanoma, suggest that heightened awareness might be prudent in the follow-up of pigmented lesions in patients with HED.

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Whole exome sequencing revealed a large deletion in EDAof a Vietnamese patient with hypohidrotic ectodermal dysplasia

Ministry of Science and Technology, Vietnam ◽

10.31276/vjst.63(12).01-04 ◽

2021 ◽

Vol 63 (12) ◽

pp. 1-4

Author(s):

Phuong Anh Nguyen ◽

◽

Thuy Duong Nguyen ◽

Van Hai Nong ◽

◽

...

Keyword(s):

Exome Sequencing ◽

Whole Exome Sequencing ◽

Ectodermal Dysplasia ◽

Genetic Disorder ◽

Large Deletion ◽

Abnormal Development ◽

Sweat Glands ◽

Hypohidrotic Ectodermal Dysplasia ◽

Whole Exome ◽

Exon 1

Hypohidrotic ectodermal dysplasia (HED) (OMIM # 305100) is a congenital genetic disorder caused by mutations in EDA (NM_001399) on chromosome X. Children with HED have the abnormal development of epidermal structures such as skin, hair, nails, teeth, and sweat glands. The present study aimed to detect mutations in EDA of a Vietnamese family with a son having only five teeth and no sweat glands, using whole exome sequencing (WES) and multiplex PCR. The results showed that patient had a deletion of exon 1 in EDA (c.2_396del), which is likely to be inherited from the healthy mother. The results will partly contribute to molecular studies on HED, helping in genetic counseling and disease treatment.

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Skin

Genetic Consultations in the Newborn ◽

10.1093/med/9780199990993.003.0038 ◽

2019 ◽

pp. 257-260

Author(s):

Robin D. Clark ◽

Cynthia J. Curry

Keyword(s):

Clinical Case ◽

Ectodermal Dysplasia ◽

The Other ◽

Sweat Glands ◽

Hypohidrotic Ectodermal Dysplasia ◽

Case Presentation ◽

Pathogenic Variants ◽

Ectodermal Dysplasias ◽

Dental Management

This chapter reviews the various types of congenital ectodermal dysplasias (ED). These present variably with involvement of skin, teeth, sweat glands, hair, and nails. In the newborn period ED can resemble ichthyosis with erythema and scaling. X-lLinked hypohidrotic ectodermal dysplasia is the most common form and may affect girls as well as boys. This can cause infant overheating with serious sequelae. Long term dental management is needed for this disorder as well as for most of the other ED’s. Several ED syndromes involve immunodeficiency. Several allelic rare multiple anomaly ED syndromes are caused by pathogenic variants in TP63. The clinical case presentation features an infant with autosomal recessive hypohidrotic ectodermal dysplasia.

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Treatment Considerations for a Patient with Hypohidrotic Ectodermal Dysplasia: A Case Report

The Journal of Contemporary Dental Practice ◽

10.5005/jcdp-9-3-128 ◽

2008 ◽

Vol 9 (3) ◽

pp. 128-134 ◽

Cited By ~ 3

Author(s):

Dilek Tüfekcioğlu ◽

Chenkhan Bal ◽

Bilge Turhan Bal

Keyword(s):

Case Report ◽

Behavioral Problems ◽

Ectodermal Dysplasia ◽

Young Patients ◽

Hair Follicles ◽

Sweat Glands ◽

Clinical Report ◽

Hypohidrotic Ectodermal Dysplasia ◽

Oral Rehabilitation ◽

Treatment Considerations

Abstract Aim This clinical report describes the oral rehabilitation of a 6-year-old male ectodermal dysplasia (ED) patient diagnosed with hypodontia. Background ED is a hereditary disease characterized by a congenital dysplasia of one or more ectodermal structures and their accessory appendages. Common manifestations include defective hair follicles and eyebrows, frontal bossing with prominent supraorbital ridges, nasal bridge depression, and protuberant lips. Intraorally, most common findings are anadontia or hypodontia, conical teeth, and generalize spaces. The patient may suffer from dry skin, hyperthermia, and unexplained high fever as a result of deficiency of sweat glands. Report A six-year-old boy who exhibited many of the manifestations of ED as well as behavioral problems and a severe gag reflex. The treatment was designed to improve his appearance and oral functions and included the fabrication of several removable prostheses and acid-etched composite resin restorations during his growth and development. Summary Young patients with ED need to be evaluated early by a dental professional to determine the oral ramifications of the condition. When indicated, appropriate care needs to be rendered throughout the child's growth cycle to maintain oral functions as well as to address the esthetic needs of the patient. This clinical report demonstrates that removable partial dentures associated with direct composite restorations can be a reversible and inexpensive method of treatment for young ED patients. Citation Bal C, Bal BT, Casela L, Tüfekçioğlu D. Treatment Considerations for a Patient with Hypohidrotic Ectodermal Dysplasia: A Case Report. J Contemp Dent Pract 2008 March; (9)3:128-134.

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EDA mutation as a cause of hypohidrotic ectodermal dysplasia: a case report and review of the literature

Genetics and Molecular Research ◽

10.4238/2015.august.28.21 ◽

2015 ◽

Vol 14 (3) ◽

pp. 10344-10351 ◽

Cited By ~ 11

Author(s):

S.X. Huang ◽

J.L. Liang ◽

W.G. Sui ◽

H. Lin ◽

W. Xue ◽

...

Keyword(s):

Case Report ◽

Ectodermal Dysplasia ◽

Review Of The Literature ◽

Hypohidrotic Ectodermal Dysplasia

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Clinical management of hypohidrotic ectodermal dysplasia with anodontia: case report

Journal of Clinical Pediatric Dentistry ◽

10.17796/jcpd.27.1.345464t2535105x1 ◽

2003 ◽

Vol 27 (1) ◽

pp. 5-8 ◽

Cited By ~ 9

Author(s):

Ekaterini Paschos ◽

Karin Christine Huth ◽

Reinhard Hickel

Keyword(s):

Case Report ◽

Young Child ◽

Clinical Management ◽

Ectodermal Dysplasia ◽

Psychological Development ◽

Early Age ◽

Complete Dentures ◽

Hypohidrotic Ectodermal Dysplasia ◽

Need For Treatment ◽

Stomatognathic System

Ectodermal dysplasia is a rare hereditary disorder with a characteristic physiognomy. The case of a 5-year-old child with hypohidrotic ectodermal dysplasia and complete anodontia is presented. Because of the anodontia and the need for treatment at an early age, the prosthetic management of such a young child can be difficult. Complete dentures were provided to encourage a normal psychological development and to improve the function of the stomatognathic system.

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