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 Table of Contents  
Year : 2022  |  Volume : 17  |  Issue : 4  |  Page : 939-944

Ectodermal dysplasia with an autosomal recessive inheritance pattern – A rare case report with a brief literature review

1 Department of Oral Medicine and Radiology, Faculty of Dentistry, Jamia Millia Islamia, New Delhi, India
2 Amity Institute of Public Health, Amity University, Noida, Uttar Pradesh, India

Date of Submission01-Jul-2022
Date of Decision11-Oct-2022
Date of Acceptance12-Oct-2022
Date of Web Publication10-Feb-2023

Correspondence Address:
Dr. Shamimul Hasan
Department of Oral Medicine and Radiology, Faculty of Dentistry, Jamia Millia Islamia, New Delhi
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Source of Support: None, Conflict of Interest: None

DOI: 10.4103/jdmimsu.jdmimsu_282_22

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Ectodermal dysplasia (ED) refers to a rare genetic disease chiefly affecting the ectodermal tissue derivatives. Hypohidrotic and hidrotic ED (HED) are the major clinically delineated forms of ED. Hypohidrotic form is the commonly occurring type. The condition manifests as a triad of hypotrichosis, hypohidrosis, and hypodontia, and generally exhibits an X-linked trait. Very rarely, it manifests as an autosomal recessive inheritance pattern. Multidisciplinary treatment protocol necessitates teamwork by medical professionals along with dentists. Dental management at the initial stage can ameliorate the patient's esthetics, thus, abating the allied emotional and mental health issues in such patients. The purpose of this manuscript is to report an extremely rare case of ED in a young female patient who reported to us with a complaint of multiple missing teeth and spacing in teeth. The patient manifested salient features of HED after thorough history taking and a detailed physical examination. Our case was an unusual occurrence where the proband exhibited an autosomal recessive inheritance pattern.

Keywords: Autosomal recessive inheritance, case report, ectodermal dysplasia, hypohidrotic ectodermal dysplasia, oral rehabilitation

How to cite this article:
Hasan S, Ambreen M, Shrivastava PK, Saeed S, Kaur M, Gombra V, Mansoori S. Ectodermal dysplasia with an autosomal recessive inheritance pattern – A rare case report with a brief literature review. J Datta Meghe Inst Med Sci Univ 2022;17:939-44

How to cite this URL:
Hasan S, Ambreen M, Shrivastava PK, Saeed S, Kaur M, Gombra V, Mansoori S. Ectodermal dysplasia with an autosomal recessive inheritance pattern – A rare case report with a brief literature review. J Datta Meghe Inst Med Sci Univ [serial online] 2022 [cited 2023 Apr 1];17:939-44. Available from: http://www.journaldmims.com/text.asp?2022/17/4/939/369494

  Introduction Top

Ectodermal dysplasias (EDs) encompasses an array of inherited disorders, typified by defective development, and/or equilibrium of two/more ectodermal-derived tissues, incorporating skin, nails, teeth, eccrine glands, hair, and the stomatognathic system.[1] A substantial divergent collection of >200 disorders, which differ both clinically and genetically falls under the umbrella of EDs,[1],[2],[3],[4] with a reported incidence of 1/17,000 births and a prevalence of 1/100,000 men and 17.3/100,000 women.[5] The condition may often manifest with deformities in other organs and systems; thus, necessitating a multidisciplinary treatment protocol.[4]

The index case of ED was reported in 1792. Wedderburn (1838) in a letter to Charles Darwin reported the X-linked pattern of inheritance. Thurman (1848) reported two typical cases of hypohidrotic EDs (HEDs). The term hereditary ED was framed by Weech (1929),[6] and Cockayne (1933) documented ED cases in females and delineated the autosomal dominant and recessive inheritance. Levit (1936) proposed that ED may occur de novo. The first fetal autopsy case of ED was reported by Chikkannaiah.[7]

Based on the sweat gland involvement, EDs can be classified into two main types: (i) hypohidrotic or anhidrotic ED, exhibiting either absent or rudimentary eccrine glands and (ii) hidrotic (Clouston syndrome) where sweat glands are normal. HED is the more common and grievous type with accompanying dental abnormalities.[8] The two forms simulate hair and teeth features, however, a diverse presentation is unveiled by eccrine glands and nails.[9]

The purpose of this manuscript is to report an extremely rare case of ED in a young female patient who manifested the salient features of HED. Our case was an unusual occurrence where the proband exhibited an autosomal recessive inheritance pattern.

  Case Report Top

An 18-year-old female patient visited our outpatient department with a concern about the difficulty in mastication due to missing teeth and spacing between teeth for the last few years. She also reported high body temperature with extreme sensitivity to heat and decreased sweating. There were episodes of recurrent pneumonia and jaundice in the past. Family history revealed that the patient was born to asymptomatic parents with a history of consanguineous marriage. The paternal grandfather was affected, and none of the relatives from both the maternal and paternal sides were affected. None of the other siblings (one elder brother) had any of these abnormalities as depicted in the pedigree chart. However, the antenatal and birth history was noncontributory. The pedigree analysis favored a probable autosomal recessive inheritance pattern. The general physical evaluation showed that the patient was a short-stature individual with normal intelligence and orientation to time and place. Extraoral examination showed a mild convex profile (retrognathic mandible), beak-shaped nose, diminished anterior facial height with thick everted lips, and mild wrinkling and hypopigmentation in the right malar, temporal area, and upper lip. Hair examination revealed sparse, dull, and lusterless hair with a receding hairline [Figure 1]a, [Figure 1]b, [Figure 1]c, [Figure 1]d, [Figure 1]e. Hand, feet, and nail examination was nonsignificant. The body temperature was 99°F (recorded with a thermometer), thus signifying hyperpyrexia.
Figure 1: (a) Short stature of the proband. (b-d) depicts the dysmorphic features. (e) Pedigree analysis suggesting an autosomal recessive inheritance pattern

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On intraoral examination, underdeveloped arches with reduced vertical bone height, obliterated depth of the sulcus in maxillary and mandibular arches, high arched palate, high maxillary labial frenal attachment, multiple missing teeth in both jaws (clinically missing 12, 22, 17, 27, 31, 41, 37, and 47), and retained 71.81 were seen. Generalized spacing in teeth was seen, and the teeth present were smaller in size, conical, and exhibited a deformed morphology. The oral mucosa has a slightly dry appearance [Figure 2]a, [Figure 2]b, [Figure 2]c, [Figure 2]d, [Figure 2]e.
Figure 2: (a-e) Intraoral examination reveals multiple missing teeth with generalized spacing. The erupted teeth are small and in size and hypoplastic

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Orthopantomogram (OPG) revealed thin and underdeveloped maxillary and mandibular alveolar ridges and partially edentulous arches. Retained 71, 81, and radiographically multiple missing teeth (12, 22, 17, 27, 31, 41, 37, and 47) were seen [Figure 3].
Figure 3: OPG reveals underdeveloped arches with multiple missing teeth. OPG: Orthopantomogram

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As the patient presented with multiple missing teeth, nonsyndromic/syndromic oligodontia (ED, Van der Woude syndrome, Rothmund–Thomson syndrome, Werner syndrome, and Down syndrome) was listed as the differentials. The accompanying hair and sweat gland involvement excluded the probability of nonsyndromic oligodontia. Negative findings of typical cutaneous (poikiloderma), nail, and ocular lesions (juvenile cataracts and thin or absent eyebrows and/or eyelashes), and precocious aging ruled out Rothmund–Thomson syndrome. The absence of distinctive lower lip pits and sinus, orofacial clefts, and ankyloglossia negated the possibility of Van der Woude syndrome. Werner syndrome was excluded due to the negative findings of delayed growth patterns, precocious aging, and eye deformities (bilateral cataracts). Down syndrome was excluded due to the absence of typical mongoloid features, intellectual disability, delayed milestones, increased incidence of periodontitis, and macroglossia. A thorough laboratory workup was carried out, and the results were within normal range. A positive sweat pore count test performed with 2% iodine in alcohol), confirmed hypohidrosis in our patient [Figure 4]a and [Figure 4]b.
Figure 4: (a and b) Positive iodine test showing hypohidrosis with 2% iodine in alcohol. The encircled part shows the only evident sweat pore

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Based on the history of similar features in the patient's paternal grandfather, skipping a generation, history of consanguinity in the nonaffected parents, classical clinicoradiographic manifestations, and hypohidrosis elicited by the sweat pore count test, a final diagnosis of HED with a probable autosomal recessive pattern of inheritance was confirmed.

The patient was advised to wear light clothing, stay in a cool environment, and apply emollients with frequent sipping of water. Considering the patient's age, and the amelioration of the mastication, esthetics, and overall psychological development, maxillary and mandibular removable partial dentures were planned in this case. The patient denied the implant treatment due to financial constraints.

  Discussion Top

Freire-Maia and Pinheiro (1982) were the pioneers to propose a nomenclature of EDs, however, upgraded classifications have been proposed in 1994 and 2001, respectively.[10] As per the upgraded nomenclatures, “1” represent hair anomaly, “2” dental anomaly, “3” nail defect, and “4” eccrine gland anomaly, respectively. These nomenclatures include > ten subcategories, reliant on the noticed deformity.[11]

Our patient reported hair, dentition, and sweat gland anomalies with normal nails, thus, fulfilling the 1-2-4 subcategory.

Priolo-Lagana and Lamartine in 2001, and 2003, respectively, recommended an elaborate nomenclature engaging molecular evidence, however, this nomenclature is of not much use clinically.[12]

Clinically, the entity exists in two major types: (a) hypohidrotic type/Christ-Seimens-Tourian syndrome and (b) hidrotic type/Clouston syndrome. [Table 1] delineates the features of the two forms.
Table 1: Delineates the features of the two forms

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HEDs incorporate a substantial yet intricate assembly of congenital diseases and are typified by the pathological evolution and morphogenesis of ectodermal tissue derivatives. The predominant form of HED exhibits an X-linked inheritance pattern (XL-HED); however, a few individuals may exhibit an autosomal dominant or recessive mode of inheritance.[13]

The disorder is usually more pronounced in affected males than in female carriers. Most female carriers with XL-HED present with only mild or “partial” involvement, and few females may occasionally present with dentition anomalies and streaks of hypotrichosis on the extremities and the back. The causative gene (EDA gene) for XL-HED is confined at the Xq12-q13.1 locus and encodes for a transmembranous protein demonstrated by teeth, hair follicles, keratinocytes, and eccrine glands. The gene mediates epithelial–mesenchymal communication and results in characteristic manifestations.[14]

The autosomal recessive inheritance pattern is seen when each parent is a carrier or heterozygous (Dd), and the possibility of disease inheritance in the offspring of carrier parents is 25%.[15] This inheritance pattern manifests by skipping generations as the offspring of unaffected carriers are usually affected. Consanguineous marriage in a family exhibiting an autosomal recessive pattern frequently results in children affected by the condition.[16]

In the HED type, the most salient manifestation is hypohidrosis (100%), followed by hair deformity (91%) and dental defects (89%).

Our case had all features fulfilling the autosomal recessive inheritance pattern-affected paternal grandfather, history of consanguineous marriage, skipping a generation, asymptomatic parents, affected female, and none of the other siblings had any features. Pedigree analysis in our patient was carried out and revealed an autosomal recessive pattern of inheritance.

The pathognomic clinical manifestations include anomalies of the skin, dentition, and sweat glands. The condition poses a diagnostic dilemma in newborns due to the absence of characteristic features. Alopecia is largely the first noteworthy clinical manifestation, and children with HED will have dull, sparse, light-colored hair which thickens and darkens as the patient grows up. The eyebrows and beard hair are fragile and scanty, with normal hair in the eyelashes, armpit, and pubic regions.[17]

Desquamation of skin during the neonatal period occurs in approximately 70% of boys manifesting with features of X-linked HED and female carriers.[17] Wrinkling and hyperpigmentation at periorbital and perioral areas, with psuedorrhagades formation around the eyes, may also occur. Palms and soles are hyperkeratotic, and atopic eczema in the flexural regions during early childhood frequently occurs. A “plastic wrap” skin display in a newborn is typical of the hypohidrotic type.[18] Such patients are more prone to develop allergies (bronchial asthma, allergic rhinitis, atopic eczema, food allergy, and otitis media) due to the fragile cutaneous barrier.[19]

The decreased/absent sweating ability may lead to raised body temperature (hyperthermia) in such patients. Recurrent episodes of idiopathic fever spikes with convulsive episodes may occur in infants during the 1st year of life.[20]

A broad forehead with frontal bossing, pronounced supraorbital ridge, depressed and hypoplastic middle-third of the face giving it a “dished-in” appearance,[21] depressed nasal bridge resulting in the saddle-shaped nose, malformed low-set ears, diminished vertical dimension with decreased anterior facial height presenting an elderly appearance at a young age, and hypotonic perioral muscles constitute the salient facial features.[22]

ED patients present with a wide array of oral features, and encompass tooth agenesis (e.g., anodontia, hypodontia, and oligodontia), tooth shape abnormalities (microdontia and conical teeth), diminished salivation, and high arched palate with a cleft. Defective mineralization may also occur, resulting in difficulty in tooth eruption. Oral findings may also have an accompanying poor oral health-related quality of life in ED patients.[23] Taurodontism, mostly seen with second deciduous molars, is a frequent finding.[24] As complete agenesis of salivary glands rarely occurs, hence, xerostomia may not be experienced by all patients.[25]

Our patient presented with the typical features of ED-wrinkled and hypopigmented skin, dull, sparse, lusterless hair with a receding hairline, convex profile with retrognathic mandible, beak-shaped nose, reduced anterior facial height, underdeveloped maxillary, and mandibular arches, high arched palate, multiple missing teeth, deformed and hypoplastic teeth with generalized spacing, and decreased perspiration.

Most HED cases may be diagnosed clinically within the 1st year of life with recurrent episodes of idiopathic hyperthermia, wrinkled and dry skin, dental anomalies, ceruminal clots, sparse, lightly pigmented scalp hair, decreased perspiration, and recurrent respiratory infections.[4],[26] OPG at an early age can be done to evaluate hypodontia and dental pathologies.[27] Hand wrist and feet X-rays may reveal skeletal abnormalities.[28]

In the present case, OPG revealed thin and underdeveloped maxillary and mandibular alveolar ridges and partially edentulous arches, with multiple missing teeth in both arches.

Sweating evaluation may be done by two methods: (a) The sweat test is performed on the patient's back, where characteristic  Lines of Blaschko More Details's lines with V-shaped outlines are seen.[29] The other method of evaluation is to count the sweat pores along fingertips or palm ridges, but there are methodological problems. Sweat pore count is carried out using starch-iodine powder. In normal persons, sweat orifices may be apparent when sweat undergoes a reaction with the starch-iodine powder, producing a deep-purple color. Sweat orifices are either not visible or poorly seen in ED patients.[9]

Our patient exhibited a positive response to the sweat pore count test, thus, confirming hypohidrosis.

Hypothenar eminence remains the preferred skin biopsy site.[28] Histopathology may reveal the absence/hypoplasia of sweat glands and a decrease in hair follicles and sebaceous glands number.[27]

However, recent literature recommends that prenatal diagnosis may identify the fetus with the possible mutation. The prenatal diagnosis may be an effective tool to avert the dissemination of the mutated gene to the next generation and may serve as a genetic base for gene therapy.[30] Chorionic villus sampling at the 10th week of gestation has also been carried out in some cases.[22]

Gene testing/gene mapping not only reveals the underlying gene and the precise mutation point but also serves as a foundation for genetic counseling. Genetic counseling may minimize the chances of consanguineous marriages and guide the affected individuals/parents about the associated general and dental risks that their offspring may encounter.[31]

In our case, it was not possible to perform the gene mapping as the patient and her parents did not give their consent for the same.

There exists no precise management protocol for ED, and multidisciplinary treatment strategies requiring teamwork from diverse disciplines (dermatology, dentistry, oral–maxillofacial surgery, ophthalmology, ENT, and primary care professionals), depending upon the affected ectodermal tissues are essential.[32] These multidisciplinary protocols should aim at amelioration of esthetics, speech, masticatory efficiency, psychological security, family and peer acceptance, and preservation of oral health care.[33]

Medical management is based on symptoms. Patients with hypohidrosis should be advised to wear light clothing, stay in a cool atmosphere, and should frequently consume cool liquids. Emollients for desiccated skin, saline sprays for enhancing nasociliary action, artificial tears to facilitate lacrimation, and antibiotics (in cases of infection) are also beneficial.[34]

Dental management should commence at the earliest to enhance the esthetics, functions, and emotional well-being of such individuals. A wide array of dental treatment strategies have been documented in the literature, such as removable and fixed prostheses, implant-retained prostheses, and implant-supported prostheses.[10] Due to the continued jaw growth, children with hypo HED typically require periodic replacement (every 2.5 years) of their prosthesis.[35]

Our patient denied the implant treatment due to financial issues, hence, maxillary and mandibular removable partial dentures were planned.

A major limitation in the present case was that exome sequencing to elucidate the definitive inheritance pattern could not be performed due to limited resources.

ED patients often exhibit significant psychological distress. Diminished salivary secretion, missing teeth and deformed dentition may exert a negative impact on swallowing, mastication, speech, and aesthetics. The salient dysmorphic facial features and defective dentition not only have functional impacts (diminished oral-related quality of life) but also affect esthetic and social acceptance, thus, possibly attributing to psychological distress. Hence, most cases of ED necessitate multidisciplinary management, taking into account holistic patient care.

  Conclusion Top

EDs are rare genetic entities characterized by deformities of the ectodermal tissues. Hypohidrotic and hidrotic forms are the two clinically delineated types, with the hypohidrotic form being the most common. Usually, it exhibits an X-linked pattern of inheritance. Our case reported typical clinical, radiographic manifestations of ED with a positive sweat pore count test. The pedigree analysis revealed a possible autosomal recessive inheritance.

Takeaway points

  • ED refers to a heterogeneous group of rare genetic disorders and primarily affects the ectodermal tissue derivatives (teeth, skin, nails, and sweat glands)
  • Based on sweat gland involvement, EDs are of two types – HED (either absent/rudimentary eccrine glands) and HED (normal sweat glands)
  • In general, HEDs exhibit an X-linked inheritance pattern (XL-HED); however, a few individuals may exhibit an autosomal dominant or recessive mode of inheritance
  • Oral rehabilitation is an integral aspect of multidisciplinary management and aims to ameliorate esthetics, speech, and masticatory efficiency, psychological well-being, and preservation of oral health care.

Patient consent

Written informed consent has been obtained from the patient.

Declaration of patient consent

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

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Conflicts of interest

There are no conflicts of interest

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