|Year : 2021 | Volume
| Issue : 3 | Page : 202-205
Ectrodactyly–ectodermal dysplasia–clefting syndrome
Khooshbu Gayen, Anisha Bag, Supreet Shirolkar, Rajib Sikdar, Santanu Mukhopadhyay, Subir Sarkar
Department of Pedodontics and Preventive Dentistry, Dr. R Ahmed Dental College and Hospital, Kolkata, West Bengal, India
|Date of Submission||12-Jun-2021|
|Date of Decision||17-Jul-2021|
|Date of Acceptance||17-Jul-2021|
|Date of Web Publication||30-Nov-2021|
Dr. Supreet Shirolkar
Department of Pedodontics 2C, Dr. R. Ahmed Dental College and Hospital, Kolkata - 700 014, West Bengal
Source of Support: None, Conflict of Interest: None
Ectrodactyly–ectodermal dysplasia–clefting (EEC) syndrome is a rare hereditary congenital defect characterized by a triad of disorders such as ectodermal dysplasia, malformed extremities, and cleft lip and/or palate. We report the case of a 3-month-old girl child with clinical signs of EEC syndrome and offer valuable information into current knowledge about this syndrome. The symptoms of EEC display diversity in both extension and expression. Early diagnosis and management of clinical manifestations associated with this syndrome presents a unique challenge due to the paucity of documents in the literature.
Keywords: Cleft lip, cleft palate, ectodermal dysplasia, syndactyly
|How to cite this article:|
Gayen K, Bag A, Shirolkar S, Sikdar R, Mukhopadhyay S, Sarkar S. Ectrodactyly–ectodermal dysplasia–clefting syndrome. Niger J Exp Clin Biosci 2021;9:202-5
|How to cite this URL:|
Gayen K, Bag A, Shirolkar S, Sikdar R, Mukhopadhyay S, Sarkar S. Ectrodactyly–ectodermal dysplasia–clefting syndrome. Niger J Exp Clin Biosci [serial online] 2021 [cited 2022 Aug 14];9:202-5. Available from: https://www.njecbonline.org/text.asp?2021/9/3/202/331551
| Introduction|| |
Ectodermal dysplasia (ED) is not a solitary disorder, rather a conglomerate group of disorders in which two or more of the ectodermally derived structures such as the sweat glands, skin, nails, hair, teeth, and mucous membranes are found to be developed abnormally. The condition is reported to be associated with more than 170 different syndromes with all possible modes of inheritance. Such one syndrome is ectrodactyly–ED–clefting (EEC) syndrome which is described as a triad of inherited congenital anomalies that includes ED, ectrodactyly (extremities, hands, and feet malformations), and cleft lip with or without cleft palate or cleft palate alone., In 1770, this syndrome was first reported among a tribe of Guiana Indians. In 1804, the first documentation of this case was done by Eckoldt and Martens and the EEC was termed by Rüdiger et al. in 1970., EEC, also known as “split hand–split foot–ED–cleft syndrome” or “split hand,” “cleft hand,” or “lobster claw hand/foot,” is an autosomal dominant rare disorder. Incidence is near about 1 in 90,000 in population.
Although each defect that comprises this syndrome has a separate entity, congregation of all three anomalies together in a single person is an extremely rare to find, and the incidence of this presentation is approximately 1.5/100 million population.
The first case of ED was published in 1848 by Thurman, but the term was given by Weech in 1929. Many ED syndromes may be present with midfacial clefts and mostly cleft lip and palate. In EEC syndrome when cleft lip with or without cleft palate is present, it shows partial penetrance and when cleft palate alone is present, it shows complete penetrance. Other features often associated with this syndrome are hearing loss, genitourinary defect, delayed developmental milestones, an amplified number of nevocellular nevi, hypopigmentation of the skin, lumbar lordosis, short stature, malignant lymphoma, and occasional mental retardation.
Here, we report a case of a 3-month-old girl with EEC syndrome with features of ED, classical split-hand/split-foot malformation of all four limbs, and bilateral cleft lip and palate.
| Case Report|| |
A 3-month-old girl child with bilateral cleft lip and palate was referred to the department of pedodontia and preventive dentistry of our institution from a state medical college and hospital for presurgical nasoalveolar molding. She was the first child and her parents were a nonconsanguineous couple. There was no history of any such genetic disease to any of the family members. Medical history of the patient was unremarkable. However, her mother reported that the patient suffered from recurrent respiratory tract infections.
On physical examination, she was found to have sparse and fine hair with scanty eyebrows and eyelashes [Figure 1]a. Both upper limbs and lower limbs had ectrodactyly with absent second and third digits/toes and median cleft showing lobster claw-like deformity [Figure 2]a and [Figure 2]b. In hands, no syndactyly was present, but both the legs had syndactyly [Figure 2]c and [Figure 2]d. Dystrophy in the nails was also seen. Skin of the child was very dry and the presence of rashes was seen in some areas. According to the parents, there was frequent recurrence of these rashes. The parents also reported that the child was intolerant to heat, frequently having fevers, and also to be presented with very less sweating.
|Figure 1: (a) Extraoral photograph showing fine, sparse hair and scanty eyebrows. (b) Complete bilateral cleft lip and palate|
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|Figure 2: (a) Right hand (b) left hand showing the presence of median cleft and the absence of second and third digits, (c) Right limb (d) Left limb showing the presence of median cleft with the absence of 2nd and 3rd toes|
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Intraoral examination showed the presence of complete bilateral cleft lip and palate [Figure 1]b. Nasal regurgitation of food at the time of eating was the main problem the child was facing. On their first visit, lip tapping was done and primary impression of cleft palate with modeling wax for fabrication of feeding plate was taken subsequently primary cast was made from the impression [Figure 3]a. A custom-made tray was fabricated on the primary cast in purpose of taking final impression, but the parents failed to turn up due to the prevailing pandemic situation [Figure 3]b, [Figure 3]c, [Figure 3]d. Informed consent was obtained from the parents for the publication of the case before start of the treatment.
|Figure 3: (a) Lip tapping done, (b-d) primary cast and custom-made tray for taking final impression|
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| Discussion|| |
Various divergent amalgamations of ED, hand, limb malformation, and orofacial clefting are seen in five distinct syndromes with some overlapping features [Table 1]. EEC is most commonly found in all of these syndromes. Other than being autosomal dominant, mostly the condition can be due to mutations of the TP63 gene presented on long arm of chromosome 3 which is necessary for epidermal morphogenesis and limb formation or any spontaneous mutation. In very rare situations, patients having EEC syndrome are found to have chromosomal translocation/deletion on the long arm of chromosome 7.
|Table 1: Different syndromes having overlapping features with ectrodactyly–ectodermal dysplasia–clefting and their main features|
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As there is no history of the presence of EEC syndrome in the family previously, this can be a sporadic one.
EDs are a cluster of infrequent genetic disorders affecting multisystem structures that arise from the ectodermal layer of the embryo. The type of presentation and severity of ED in patients with EEC syndrome can be extremely inconsistent in different individuals. The manifestation of ED can be hypoplastic teeth, dry skin, dystrophic nails, absence or inappropriate functioning of sweat glands and salivary glands, malformations of the nose, and sparse or absent hair with occasional lacrimal duct obstruction and most of these features also are associated with EEC syndrome. The affected sweat gland may result in heat intolerance and fever due to hypohydrosis. In association with EEC syndrome, various manifestations of oral ED are found, such as, multiple congenitally missing teeth, taurodontism affecting single or multiple teeth, defect in tooth enamel and alveolar ridge, malformed crowns, and severe decay of multiple teeth.,,
In ectrodactyly, one or more fingers or toes can be malformed or completely absent. The term ectrodactyly came from the Greek word “ektroma” (abortion) and “daktylos” (finger). The presence of median cleft in upper and lower limbs makes the appearance of a lobster claw, and hence, the other name of this syndrome is lobster claw hand/foot. Involvement of all four limbs is very rare which is found in this case and this could be due to the apical ectoderm of the limb buds having a wedge-shaped defect. Along with this in some cases of EEC, fusion (syndactyly) or webbing of the fingers and/or toes is observed and in the present case, it is present in the toes. In few cases, syndactyly can be the single limb deformity to be observed. In majority cases, mild abnormality in the limb is found and in very rare cases, it may remain unaffected also.
Clinically in patients with EEC syndrome, cleft lip can be seen with or without cleft palate. In this patient, complete bilateral cleft lip with palate was observed. Other additional facial features that can be present with this syndrome are midfacial hypoplasia, abnormally long philtrum, broad nasal tip, and choanal atresia. Mental retardation also has been found with this syndrome, but it is an infrequent feature. In a review of 230 cases, main features seen in EEC syndrome include ectrodactyly (84%), ED (77%), cleft lip and/or palate (68%), abnormalities of lacrimal tract (59%), urogenital abnormalities (23%), and conductive hearing loss (14%). Furthermore, in these 230 cases, 114 were identified as sporadic and 116 were identified as familial.
On the basis of the clinical features that were present in this child patient – ectrodactyly (median cleft in all four extremities, the absence of second and third digits, and syndactyly in toes), ED (sparse hair, eyebrows, eyelashes, less sweating, heat intolerance, frequent fever, and dystrophic nails), and complete bilateral cleft lip and palate, a provisional diagnosis of EEC syndrome was made. For confirmatory diagnosis, molecular genetic testing for chromosomal abnormalities should be done. Antenatal testing using molecular genetic testing is also feasible. For managing this condition, a multidisciplinary approach should be taken starting with presurgical nasoalveolar molding at an earlier age and detailed evaluation and imaging of the affected limbs, hearing assessment, opthalmological evaluation, echocardiography, renal ultrasound, and skin biopsy. Treatment is mainly supportive, involving a team of health-care personals including pediatrician, pediatric surgeon, orthopedic surgeon, orthopedists, plastic surgeon, speech therapist, dentist, and other health-care professionals. After patients grow to a certain age, artificial dentures should be made to replace the missing teeth, orthopedic management for the limbs to prevent functional disability, and surgery for cleft lip and palate should be included in the management. Patients with hyposalivation can be prescribed artificial saliva for the maintenance of proper oral hygiene.
| Conclusion|| |
EEC is a rare syndrome presenting with various clinical manifestations, involving various systems. Early diagnosis and management of all the clinical manifestations that affect the quality of the patient's life need a multidisciplinary team of professionals from different clinical specialties. Dentists play an utmost important role in the management of patients with EEC syndrome as it is presented with different oral manifestations such as missing teeth, cleft lip, and palate. Here, we have presented a case of EEC syndrome in a 3-month-old child. Their principal concern was the presence of cleft and difficulty in eating. Prenatal counseling, genetic screening, detection, and early management should be done.
Declaration of patient consent
The authors certify that they have obtained all appropriate patient consent forms. In the form, the patient's parents have given their consent for their images and other clinical information to be reported in the journal. The patient's parents understand that their his 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.
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