|Year : 2018 | Volume
| Issue : 2 | Page : 111-114
Ectrodactyly, ectodermal dysplasia, and cleft lip or palate syndrome: A review with rare case report
Aarati S Panchbhai
Department of Oral Medicine and Radiology, SPD College and Hospital, DMIMSDU, Wardha, Maharashtra, India
|Date of Web Publication||31-Dec-2018|
Dr. Aarati S Panchbhai
Department of Oral Medicine and Radiology, SPD College and Hospital, DMIMSDU, Sawangi-M, Wardha - 442 001, Maharashtra
Source of Support: None, Conflict of Interest: None
Ectrodactyly, Ectodermal dysplasia, and cleft lip or palate (EEC) syndrome is a rare ectodermal dysplasia syndrome, and very few cases are reported in the Indian literature. Ectodermal dysplasia constitutes a heterogeneous group of disorder characterized by various defects in hair, nails, teeth, and sweat glands. The term “EEC syndrome” was coined by Rudiger et al. in 1970. The syndrome results from developmental anomalies that involve both ectodermal and mesodermal tissues and consists of EEC. It is a complex multiple congenital anomalies syndrome in which any of the three cardinal signs are present in variable expression, specific clinical pattern of defects may lead to correct diagnosis. Prosthodontic rehabilitation may aid in restoring the normal function and esthetic in such patients. The present article reviews the literature on EEC syndrome and reports on the Indian kindred consisting of two siblings with ectodermal dysplasia, one of them (a boy) presented with EEC syndrome.
Keywords: Ectodermal dysplasia; ectrodactyly; ectrodactyly; ectodermal dysplasia and cleft lip or palate syndrome
|How to cite this article:|
Panchbhai AS. Ectrodactyly, ectodermal dysplasia, and cleft lip or palate syndrome: A review with rare case report. Indian J Multidiscip Dent 2018;8:111-4
|How to cite this URL:|
Panchbhai AS. Ectrodactyly, ectodermal dysplasia, and cleft lip or palate syndrome: A review with rare case report. Indian J Multidiscip Dent [serial online] 2018 [cited 2019 May 20];8:111-4. Available from: http://www.ijmdent.com/text.asp?2018/8/2/111/249119
| Introduction|| |
Ectrodactyly, ectodermal dysplasia, and cleft lip or palate (EEC) syndrome involve both ectodermal and mesodermal tissues.,,, “Ectodermal Dysplasia Syndromes” are defined by the combination of ectodermal defect in association with other anomalies,, the example is the EEC syndrome. It does not show sexual predilection. The clinical features are summarized in [Table 1].,,, EEC syndrome (OMIM: 129900), shares some or all of its features with other syndromes such as ADULT (OMIM: 103285) syndrome, limb-mammary syndrome (OMIM: 603543), lacrimoauriculodentodigital syndrome, ectrodactyly-cleft palate syndrome, second heart field malformations, OMIM: 605289), Rapp–Hodgkin syndrome (OMIM: 129400), and Hay–Wells (AEC, OMIM: 106260) syndrome.,,,,,,,
|Table 1: Clinical features of ectrodactyly, ED, and cleft lip or palate syndrome,,,,|
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EEC can be both familial and sporadic, caused by missense mutations in p63 gene located on the long arm of chromosome 3 (3q27).,, It inherits in autosomal dominant manner with incomplete penetrance., The present article reviews the literature and presents the report on the Indian kindred presenting with EEC syndrome.
| Case Reports|| |
Two siblings, an 8-year-old boy and a 12-year-old girl, reported with chief complaint of the inability to chew and itching all over the body. Their ancestors and parents were normal and had consanguineous marriage. Mother gave a history of full-term normal delivery with no history of trauma or drug intake or illness prenatally.
The features observed in boy on extraoral examination and intraoral examinations are presented in [Table 2].
On general examination [Figure 1] and [Figure 2]:
|Figure 1: Upper extremity as transverse hemimelia, with malformed elbow joint and wrist joint, clawed hands with ectrodactyly (boy)|
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|Figure 2: Right lower limb with shortened distal portion and abnormal right ankle joint with sole facing upward (boy)|
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- Short stature
- Ectromelia with upper and lower limbs
- Underdeveloped distal portions of both the upper limbs may be specified as transverse hemimelia, with malformed elbow joint and wrist joint
- Both hands showed ectrodactyly with the absence of thumb
- Slender fingers were typically bent at first interphalangeal joint
- The distal portion of the right lower limb was shortened with abnormal right ankle joint with sole of the foot facing upward.
The features observed in girl on extraoral and intraoral examination [Figure 3] and [Figure 4] are summarized in [Table 3].
|Figure 4: Orthopantomogram with partially edentulous upper and lower arches, teeth showing permanent tooth morphology, deficient basal bone height (girl)|
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On general examination:
- Bifid thumb of the right hand
- Yellow to brownish discoloration of the nails
- Abnormally wide clefts between big toe and adjacent small toe
- Prominent bony bulge in mid of the right clavicle of size 2.5 cm × 2.0 cm.
Patients were also sent for thorough physical evaluations, and no abnormality was detected.
| Discussion|| |
The clinical features exhibited in case of boy were hypohidrotic ectodermal dysplasia (ED), ectrodactyly, distal limb deformities without cleft lip or palate, the boy was diagnosed as the sporadic case of EEC syndrome and a girl as a case of hypohidrotic ED syndrome with multiple anomalies. Wallis reported a fourth-generation family with EEC syndrome without orofacial clefting in accordance with other studies.,, Although parents of the siblings were related and hence the chances of occurrence of developmental anomalies are amplified in this case, the association with ED indicates diagnosis toward “Ectodermal Dysplasia Syndrome” than any other condition.
The patients were referred to pedodontia and prosthodontia departments for oral habilitation and to dermatology department. The girl was delivered upper and lower overdentures. However, the boy was not willing to undergo dental treatment.
It is listed as a “rare disease,” overall prevalence seems to be in the order of 100 per 1 million of population. EEC syndrome was first described by Cockayne in 1936; however, the acronym was coined later by Rudiger et al. Any of the three cardinal manifestations may present with variable clinical expressions, the constellation of all three appears to be a rare occurrence. The absence of any of the clinical features or negative finding on specific testing does not rule out the diagnosis as every person with EEC syndrome does not have every finding., Moreover, scientists have not yet found all of the mutations in p63 gene.
A nationwide study established the diagnostic criteria for EEC syndrome as follows:
| Conclusion|| |
EEC syndrome involves both ectodermal and mesodermal tissues to show variable manifestations. Hence, the effective management of cases with EEC syndrome requires a multidisciplinary approach preferentially involving plastic surgeon, dental surgeon, and psychotherapist.,, The present paper would benefit the readers by making them aware of this rare syndrome and its meager literature available.
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
Conflicts of interest
There are no conflicts of interest.
| References|| |
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[Figure 1], [Figure 2], [Figure 3], [Figure 4]
[Table 1], [Table 2], [Table 3]