Hypohidrotic ectodermal dysplasia: A rare entity

Himanshu Srivastava; Chintu K Singh; Sameera M. R Qureshi; Chaitra S Mastud

doi:10.4103/jomfp.jomfp_72_21



CASE REPORT

Year : 2023 \| Volume : 27 \| Issue : 5 \| Page : 75-79

Hypohidrotic ectodermal dysplasia: A rare entity

Himanshu Srivastava¹, Chintu K Singh², Sameera M. R Qureshi³, Chaitra S Mastud⁴
¹ Department of Oral and Maxillofacial Pathology and Microbiology, Ph.D. Scholar Karnavati University, Gandhi Nagar, Gujarat, India
² Departments of Oral and Maxillofacial Pathology and Microbiology, Aditya Dental College and Hospital, Beed, Maharashtra, India
³ Oral and Maxillofacial Surgery, Aditya Dental College and Hospital, Beed, Maharashtra, India
⁴ Department of Orthodontics and Dentofacial Orthopaedics, D. Y. Patil Dental College and Hospital, Dr.D.Y.Patil Vidyapeeth, Pune, Maharashtra, India

Date of Submission	28-Feb-2021
Date of Decision	16-Aug-2022
Date of Acceptance	18-Aug-2022
Date of Web Publication	04-Feb-2023

Correspondence Address:
Himanshu Srivastava
Krishna Nagar Colony, Dostpur Road, Akbarpur, Ambedkar Nagar - 224 122, Uttar Pradesh
India

Source of Support: None, Conflict of Interest: None

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DOI: 10.4103/jomfp.jomfp_72_21

Abstract

Hypohidrotic ectodermal dysplasia (HED) is a genetic disorder which involves a complex group of inherited conditions. This condition is characterised by the failed development of two or more ectodermal derived anatomic structure; for example, the skin, hair, nails, teeth, and sweat glands. It is a phenotypically heterogenous group of illnesses including anodontia with conical teeth, generalised spacing, reduced ability to sweat, very less hair growth, etc. The pattern of inheritance of HED varies from person to person depending on the type of ectodermal dysplasia (ED). The patterns include X-linked recessive, X-linked dominant, autosomal dominant, autosomal recessive, and spontaneous mutation. There is one such common type of ED more in female than male. It is an X-linked HED (XLHED), characterised by hypohidrosis, sparse hair, and teeth abnormalities. The other type can affect both male and female equally and may be inherited in different ways. The present case is a 21-year-old male who presented with hair, teeth, and sweat gland abnormalities.

Keywords: Ectodermal dysplasia, hypohidrotic, oligodontia

How to cite this article:
Srivastava H, Singh CK, Qureshi SM, Mastud CS. Hypohidrotic ectodermal dysplasia: A rare entity. J Oral Maxillofac Pathol 2023;27, Suppl S1:75-9

How to cite this URL:
Srivastava H, Singh CK, Qureshi SM, Mastud CS. Hypohidrotic ectodermal dysplasia: A rare entity. J Oral Maxillofac Pathol [serial online] 2023 [cited 2023 Mar 27];27, Suppl S1:75-9. Available from: https://www.jomfp.in/text.asp?2023/27/5/75/369186

Introduction

J. Thurman first described this disorder as a condition in which the skin, hair, and teeth of the affected individual were underdeveloped.^[1],[2] This disorder was then named as ectodermal dysplasia (ED) by Weech in 1929.^[3] There have been reports of more than 192 different subtypes of ED till date. These disorders are considered to be relatively rare, with an estimated frequency of seven cases occurring in every 1,00,000 births.
ED is a heterogeneous group of disorders characterized by hypohidrosis, hypotrichosis, onchodysplasia, and hypodontia or anodontia. A patient with ED has a prominent supraorbital ridge, saddle nose, and frontal bossing. The nose may appear pinched and alae nasi is hypoplastic. The skin of the patient may appear hypopigmented or there may be maculopapular eruptions during infancy.
Oral findings in an ED patient are significant and can include multiple abnormalities of the dentition such as anodontia/oligodontia, hypodontia or malformed and widely spaced peg-like teeth, loss of occlusal vertical dimension, taurodontism, protuberant lips, and lack of normal alveolar ridge development with little or no dental support, a hypoplastic maxilla and mandible resulting in bite collapse, and narrowing of alveolar ridge.

Case Report

A 21-year-old male patient was reported with chief complaint of multiple missing teeth in the upper and lower jaw since childhood. The patient was presented with no history of teeth exfoliation. Other problems described by the patient were intolerance to heat and dryness of skin and mouth with difficulty in swallowing. There was no association of family history and past medical history, and natal/post-natal history with the concerned patient. The extraoral examination presented with generalised hypotrichosis, hair loss or sparse hair growth, absence of skin on upper and lower limbs, saddle nose, and everted prominent lips. The orbital region dispensed with clearly visible periocular hyperpigmentation. Intraoral examination revealed partial edentulism (oligodontia). The total number of teeth present was three with one tooth in the maxillary and two teeth in the mandibular region.

Extraoral Examination

Facial form: Ovoid
Profile: Prognathic
Facial muscle tone: Average
Prominent forehead, thick lips, and a flattened bridge of the nose
Hair: Sparse
TMJ: Normal movements
Mandibular movements: Normal

Intraoral Examination

Hard tissue evaluation

Ridge evaluation

Arch form: Upper – ovoid

Lower –Square

Ridge size: Upper – Unfavourable

Lower – Unfavourable

Ridge form: Upper – U-shaped

Lower – U-shaped

Inter-arch space: Inadequate

Teeth present: 17, 27, 37

Signs and symptoms

Hair: The hair on the scalp and body may be sparse, thin, and lightly coloured. They may be coarse, brittle or curly, with scanty hair around eyebrows and eyelashes [Table 1].
Nails: They may be thick, abnormally shaped, discoloured, ridged, slow-growing or brittle. Sometimes, nails may be absent [Table 1].
Teeth: Missing or sharp pointed teeth. Defective tooth enamel [Table 1].
Sweat glands: Eccrine sweat glands may be absent [Table 1].
Skin Dry, wrinkled skin, rough. and lustreless [Table 1].

Table 1: Signs and symptoms of the patient

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Radiographic findings

An OPG of the patient showed normal appearance of maxillary and mandibular ridges.

Discussion

Mostly ED is genetically related and EDA (ectodysplastin), EDARADD (ectodysplasin receptor associated death domain) and EDAR (ectodysplasin receptor) are the genes responsible. Ectodermal dysplasia can be autosomal dominant, autosomal recessive or X-linked recessive. Hypohidrotic ectodermal dysplasia (HED) transmitted mainly as an X-linked recessive trait in which the gene is carried by the female and manifested in male.

In this case, [Figure 1] and [Figure 2] show dryness of face and mouth with conical and sharp teeth resulting in difficulty of swallowing. [Figure 3] shows dry and wrinkled skin of hands and fingers along with brittle nails and pigmentation. In [Figure 4], there is a consistent sparse or less hair growth or even no hair growth in some areas of the scalp. [Figure 5] shows the classic example of the patient's orthopantomogram (OPG) portraying multiple loss of teeth in the upper and lower jaw.

Figure 1: Dryness of face and mouth

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Figure 2: Conical and sharp teeth

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Figure 3: Dry and wrinkled skin of hands and fingers along with brittle nails and pigmentation

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Figure 4: Consistent sparse or less hair growth or even no hair growth in some areas of the scalp

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Figure 5: Patient's OPG portraying multiple loss of teeth in the upper and lower jaw

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Aetiology and pathogenesis

HED is caused by mutations in the genes EDA (ectodysplastin), EDAR (ectodysplasin A receptor), or EDARADD (EDAR-associated death domain) genes. Depending upon the physical features of the affected individual, HED can be diagnosed after infancy in most cases. Genetic testing may confirm the diagnosis. The Genetic Testing Registry (GTR) is one of the testing resources for such a rare disease. There are health care providers and researchers who take care for the registry. The GTR provides information about genetic tests for this condition. The most common syndromes associated with this group are HED and hidrotic ectodermal dysplasia.^[4] The most common phenotype in this group is known as Christ-Siemens-Touraine syndrome ^{More Details}. It is also commonly known as anhidrotic/hypohidrotic ectodermal dysplasia. It is an X-linked disorder characterised by heat intolerance, absence of sweat glands, and abnormal spiky or absent teeth.

Another variety of HED (otherwise called as Clouston syndrome), inherited in an autosomal dominant manner, was described by Clouston in 1929 and Freire-Maia N et al. in 1966.^[5] Freire-Maia and Pinheiro, in 1982, proposed the first ever classification of ED with recent updates in 1994 and 2004.^[6],[7] Newer classifications are proposed with advances in understanding the genetic basis of diseases. These are based on defects in cell–cell communication and signalling, adhesion transcription, regulation, and development; for example, Priolo and Lagana classification (2001) and Lamartine classification (2003).^[8–10] Intellectual disability has been documented in various subtypes of ED.^[11],[12] However, it's real incidence according to each subgroup has not yet been decided upon. Tooth agenesis and its secondary effects on growth and development of the jaws is often the most significant clinical and therapeutic challenge for the patient as well as the dentist.

Differential diagnosis

Alopecia areata
Aplasia cutis congenita
Focal dermal hypoplasia syndrome
Incontinentia pigmenti
Naegeli-Franceschetti-Jadassohn syndrome
Pachyonychia congenita

Investigation

Patients with ED who are associated with immunodeficiency may have hypogammaglobulinemia with impaired lymphocyte proliferation and cell-mediated immunity. An appropriate evaluation, including determination of quantitative immunoglobulin levels and T-cell subset populations, should be performed. OPG at an early age of hypodontia or dental abnormalities are proven to be of great help. X-ray films of hands, feet, or both may demonstrate specific skeletal deformities. Sweat pore counts, pilocarpine iontophoresis, and skin biopsy may document hypohidrosis and a reduction in the number of eccrine glands. Cross-sectional postal survey was conducted among the parents of 100 children with ED who had been registered with the German Swiss-Austrian patient support group at any time point within the past 10 years.^[13] Tooth germ sonography is highly specific and reliable in detecting or ruling out fetal XLHED in pregnant carriers.Foetuses of nine pregnant women (one triplet and eight singleton pregnancies) with family histories of HED were investigated by sonography between the 20^th and 24^th week of gestation.^[14] Previous studies in the naturally occurring dog model demonstrated partial prevention of the XLHED phenotype by postnatal administration of recombinant EDA1. The protein that includes the receptor binding domain of EDA was administered intra-amniotically to two affected human twins at gestational weeks 26 and 31 and to a single affected human foetus at gestational week 26. The infants, born in week 33 (twins) and week 39 (singleton), were able to sweat normally, and XLHED-related illness had not developed by 14 to 22 months of age.^[15] Suggesting improved onset of sweating ability and restored Meibomian gland ^{More Details} development. In 36 genotyped XLHED patients and 29 control subjects aged 0–57 years, pilocarpine-induced sweat volume, palmar sweat pore density, and palmar skin conductance before and after stimulation were determined.^[16] These results exemplify the feasibility of ultrasound-guided intra-amniotic injections for the treatment of developmental disorders, with improved formation of specific EDA1-dependent structures in dogs with XLHED.

In our case the diagnosis is mainly based on radiographs, family history and clinical examination done by us as Ectodermal dysplasia with partially edentulous maxillary and mandibular arch. The goal of treatment for ectodermal dysplasia patient is mainly for esthetic and involve a team approach consist of pediatricians, pediatric dentist, prosthodontist, dermatologist, otolaryngologist, speech therapist and psychologist.

Treatment

Objectives of dental treatment

Early development of correct patterns of chewing, swallowing, speaking
Preservation of alveolar bone
Development of a normal and psychological profile
Dental treatment is often necessary in patients with ED.
Some children may need dentures at an early age of two years.
It is important to seek dental advice early since the maintenance of the alveolar ridge is important for later dental intervention.
Prosthetic teeth are implanted in adults for mastication and speech.
More importantly, aesthetic dental interventions in patients with ED, malformed teeth. and malocclusion helps with the development of a positive self-image and overall oral health.
Complete denture prosthodontics in children with ED.^[17]

Treatment options for HED follows

Crum and Rooney compare bone loss between patients with conventional dentures and overlay dentures. By retaining the mandibular canines, the rate of resorption of alveolar bone surrounding the teeth was reduced by eight times.^[18]
Jerge reported that the periodontal receptors actively influence the cyclic joint movements of mastication by their proprioceptive feedback mechanism.
Pacer and Bowman compared the occlusal force discrimination between conventional and overlay dentures.^[19] The overlay denture more closely resembles natural teeth in this type of sensory function than does the conventional denture. These greatly enhance the denture coordination and ability to control the dentures.
Schwingdling et al.^[20] in 2014 conducted a retrospective study on the survival and complication rate of double-crown-retained dental prosthesis which showed a success rate of 90.4% of resilient crown-retained overdentures after five years, with complications such as decementation of primary crowns, fracture of the denture base, and the need for relining^[20]

There is no specific treatment for HED. Perhaps, the condition is managed by treating the symptoms associated with HED.

Hair: Special hair care formulas or wigs
Sweat glands: The patients are recommended to stay in cool temperature places with air conditioning or coolers at home, school, and work.
Body temperature: In order to maintain the body temperature, the patient should frequently drink cool liquids and wear cool airy clothing.
Teeth: Dental defects can be managed with dentures or implants.
Eyes: Artificial tears are used to prevent cornea damage.
Surgical: Surgery to repair cleft palate is also helpful in improving speech and facial deformities.

Conclusion

A child with HED is often associated with dental problems, and thus they suffer not only from functional difficulties but also from poor aesthetics. Early treatment is essential to encourage a normal physiological development and to improve function of stomatognathic system as well as to enhance aesthetic to control psychological disturbances.

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.

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