JICDRO is a UGC approved journal (Journal no. 63927)

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CASE REPORT
Year : 2022  |  Volume : 14  |  Issue : 2  |  Page : 156-160

EEC syndrome: A rare case management


1 Department of Health and Family Welfare, Govt. of West Bengal, Kolkata, West Bengal, India
2 Department of Pediatric and Preventive Dentistry, Guru Nanak Institute of Dental Sciences and Research, Kolkata, West Bengal, India

Date of Submission18-Nov-2021
Date of Decision13-Aug-2022
Date of Acceptance09-Sep-2022
Date of Web Publication29-Dec-2022

Correspondence Address:
Dr. Payel Agarwala
397, Dumdum Road, Kolkata - 700 074, West Bengal
India
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Source of Support: None, Conflict of Interest: None


DOI: 10.4103/jicdro.jicdro_81_21

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   Abstract 


Ectrodactyly–ectodermal dysplasia–cleft lip/palate (EEC) syndrome is a rare congenital anomaly. Infants affected with this syndrome experience feeding difficulties due to the presence of orofacial clefts, which in turn impedes nutrition and affects overall health. Due to the presence of oronasal communication in such infants, there is a lack of negative pressure necessary for suckling. Due to the cleft lip, these infants face trouble closing their mouths around the nipple of the mother or bottle and due to the cleft palate, the infants suffer from choking and nasal regurgitation during feeding due to the inability of the palate to separate the oral and nasal cavities. A feeding appliance is a crucial aid because it obturates the cleft and creates a platform against which the infant can press the nipple and extract milk until the cleft is surgically repaired. However, conventional feeding plates may be potentially dangerous due to the risk of accidental swallowing. Furthermore, the wire component of certain feeding appliances may cause tissue injury. KRIPA's feeding appliance incorporates an adjustable head strap and Polyvinyl chloride (PVC) tube-enclosed retentive hooks which render it safer and more acceptable. This case report represents the fabrication of KRIPA's feeding appliance for a 3.5-month-old infant with EEC syndrome.

Keywords: Cleft lip/palate, ectrodactyly–ectodermal dysplasia–clefting syndrome, feeding appliance, head-strap, KRIPA'S appliance


How to cite this article:
Agarwala P, Samaddar K, Chakraborty C, Kar S, Zahir S. EEC syndrome: A rare case management. J Int Clin Dent Res Organ 2022;14:156-60

How to cite this URL:
Agarwala P, Samaddar K, Chakraborty C, Kar S, Zahir S. EEC syndrome: A rare case management. J Int Clin Dent Res Organ [serial online] 2022 [cited 2023 Feb 3];14:156-60. Available from: https://www.jicdro.org/text.asp?2022/14/2/156/365845




   Introduction Top


Ectrodactyly–ectodermal dysplasia–clefting (EEC) syndrome is a rare entity comprising a triad of ectrodactyly, ectodermal dysplasia, and cleft lip with or without cleft palate.[1] The occurrence of all three disorders in one (ectrodactyly, ectodermal dysplasia, and cleft lip/palate) is very rare with a frequency of approximately 1.5/100 million.[1] Mostly, EEC cases are caused by mutations of the TP63 gene and can be either familial (autosomal dominant inheritance) or sporadic (spontaneous mutations).[2]

The feeding difficulties in infants with clefts are well documented in the literature.[3] A feeding appliance basically acts as a “false palate” that restores the separation between the oral and nasal cavities and therefore eases feeding.[4]

However, a feeding plate can be accidentally swallowed, due to which, it is conventionally provided with a thread-like component.[5],[6],[7] The caregivers need to be constantly alert to pull the thread for retrieval of the feeding plate in case of accidental swallowing. The thread also has to be discarded after each use to prevent contamination which is especially relevant in the ongoing pandemic situation since the oral cavity can be an entry portal of severe acute respiratory syndrome-coronavirus-2 (SARS-CoV-2).[8] Moreover, certain feeding appliances are provided with retentive hooks; wire components which may cause soft-tissue injury if not handled properly. All of these increase the caregivers' apprehension and reduce patient acceptability.

KRIPA's feeding appliance with its head strap tube-enclosed retentive hook complex may ensure enhanced safety and acceptability. The head strap can also be reused multiple times with easy decontamination.

Herewith, we present a case report that describes the fabrication of KRIPA's feeding appliance for a 3.5-month-old infant affected with EEC syndrome.


   Case Report Top


A 3.5-month-old male infant was referred to our outpatient department with the chief complaint of feeding difficulty. Intraoral examination revealed a unilateral complete cleft lip and palate on the left side [Figure 1]. Extraoral examination revealed ectrodactyly on all limbs. The left foot and part of the left lower leg were absent [Figure 2]. The right foot showed syndactyly between the first, second, third, and fourth toes [Figure 3]. The left hand showed an absence of phalange of the fourth digit and malformed second and fifth digits [Figure 4]. The right hand showed an absence of phalanges of the third digit [Figure 5]. The infant also had sparse brittle hair with persisting hair loss and sparse eyebrows [Figure 6]. After discussion with the child's despondent parents, it was found that the mother was never able to breastfeed the infant and is facing difficulty to feed him even with a long feeding spoon due to nasal regurgitation. Due to the SARS-CoV-2 pandemic, the parents were hesitant in seeking treatment; also the infant did not have optimum body weight for the cleft surgery. Therefore, an immediate decision to fabricate a feeding appliance was made.
Figure 1: preoperative photograph showing the cleft deformity

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Figure 2: left limb shows absent foot and lower leg

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Figure 3: right leg shows syndactyly

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Figure 4: left hand shows malformed digits and absent phalange

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Figure 5: right hand shows absent phalanges

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Figure 6: sparse eyebrows

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Procedure

An impression of the maxillary arch was made with silicone putty impression material (Dentsply Aquasil Soft Putty) [Figure 7] using a custom-made impression tray [Figure 8] by holding the infant in an upright position. The constant crying of the infant during impression making ensured a patent airway. The impression was poured with dental stone (BNStone, BN Chemicals) [Figure 9]. A 21 gauze orthodontic wire (Jaypee SS Wire) was bent in the shape of two retentive hooks; those hooks were covered with PVC tubes to prevent any soft-tissue trauma. The hooks were attached to the wax spacer over the master cast [Figure 10]. Flexible elastics were tied to the wire hooks by passing them through the eyelets of the hooks. The feeding plate was acrylized with cold cure acrylic resin (DPI) [Figure 11]. The acrylized plate was trimmed, borders were rounded, and polished to avoid trauma to the surrounding tissue. A head strap was made using elastic strap material, buttons, and an adjustable slider in accordance with the infant's head circumference [Figure 12]. The complete feeding appliance was constructed and checked for fit and retention by placing the feeding plate inside the infant's mouth followed by attaching it to the adjustable head strap [Figure 13]. A suckling response was observed by placing a finger inside the infant's mouth. The infant was able to suck and create negative pressure on the finger [Figure 14].
Figure 7: impression

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Figure 8: custom-made impression tray

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Figure 9: cast

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Figure 10: wax spacer with two plastic tube-enclosed retentive hooks

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Figure 11: acrylized feeding plate

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Figure 12: adjustable head strap

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Figure 13: head strap incorporated feeding appliance fitted inside the infant's mouth

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Figure 14: suckling response observed

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The mother was able to successfully breastfeed the child with the appliance in place. Necessary instructions related to appliance use were given to the parents.


   Discussion Top


Ectrodactyly–ectodermal dysplasia–clefting (EEC syndrome is a rare, complex, pleiotropic multiple congenital anomaly/dysplasia syndrome that requires a multidisciplinary approach for management.[9],[10]

The infant's parents complained of difficulty in feeding the infant. A conventional feeding plate is usually provided with dental floss to prevent gagging or accidental swallowing, but such floss needs to be reused for subsequent feeding approaches.[5],[6],[7] This costs an additional financial burden as well as the fact that the caregivers need to be vigilant enough to pull the floss anytime the plate causes discomfort. Assessing such drawbacks associated with conventional feeding appliances, it was decided to incorporate an adjustable head strap to hold the feeding plate for enhanced protection against accidental swallowing and for a reduction in expenses because the head strap is reusable. The retentive hooks were enclosed with PVC tubes to prevent tissue trauma. As the patient did not undergo presurgical nasoalveolar molding and has surpassed the age for the same at present, utmost precautions were taken during the entire procedure to prevent any injury to the soft-tissue structures. A lubricated gauze piece was inserted into the cleft undercuts to prevent the unnecessary flow of the impression material. Kripa's appliance would aid in proper nutrition resulting in optimal weight gain for the patient to undergo further corrective surgeries. The patient was referred to the multidisciplinary team for further management of the patient's condition. At present, the patient has reported to us stating that her cleft lip repair is done and is awaiting further surgeries and prosthetic rehabilitations as advised by the multidisciplinary team.


   Conclusion Top


The management of clinical manifestations associated with EEC syndrome presents a unique challenge. The affected patients suffer physical, psychological, and social distress. KRIPA's feeding appliance is intended to provide a safer yet effective modification to conventional feeding appliances. The term “KRIPA” suggests blessing. KRIPA's feeding appliance aims to improve the quality of life of both the patient and his parents. We look forward to more innovative additions to our humble concept to increase acceptability and awareness about this rare syndrome and its treatment modalities.

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.



 
   References Top

1.
Sabhlok S, Mishra S, Tripathy R, Mony D. Ectrodactyly-ectodermal dysplasia-cleft lip/palate syndrome: A rare entity. Plast Aesthet Res 2015;2:290-3.  Back to cited text no. 1
    
2.
Barrow LL, van Bokhoven H, Daack-Hirsch S, Andersen T, van Beersum SE, Gorlin R, et al. Analysis of the p63 gene in classical EEC syndrome, related syndromes, and non-syndromic orofacial clefts. J Med Genet 2002;39:559-66.  Back to cited text no. 2
    
3.
Devi ES, Sai Sankar AJ, Manoj Kumar MG, Sujatha B. Maiden morsel- feeding in cleft lip and palate infants. J Int Soc Prev Community Dent 2012;2:31-7.  Back to cited text no. 3
    
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Radhakrishnan J, Sharma A. Feeding plate for a neonate with Pierre Robin sequence. J Indian Soc Pedod Prev Dent 2011;29:239-43.  Back to cited text no. 4
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5.
Agarwal A, Rana V, Shafi S. A feeding appliance for a newborn baby with cleft lip and palate. Natl J Maxillofac Surg 2010;1:91-3.  Back to cited text no. 5
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Masih S, Chacko RA, Thomas AM, Singh N, Thomas R, Abraham D. Simplified feeding appliance for an infant with cleft palate. J Indian Soc Pedod Prev Dent 2014;32:338-41.  Back to cited text no. 6
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Gupta R, Singhal P, Mahajan K, Singhal A. Fabricating feeding plate in CLP infants with two different material: A series of case report. J Indian Soc Pedod Prev Dent 2012;30:352-5.  Back to cited text no. 7
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Sakaguchi W, Kubota N, Shimizu T, Saruta J, Fuchida S, Kawata A, et al. Existence of SARS-CoV-2 entry molecules in the oral cavity. Int J Mol Sci 2020;21:6000.  Back to cited text no. 8
    
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Batra P, Duggal R, Parkash H. EEC syndrome – A case report. J Indian Soc Pedod Prev Dent 2003;21:75-8.  Back to cited text no. 9
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Bharati A, Navit S, Khan SA, Jabeen S, Grover N, Upadhyay M. Ectrodactyly-ectodermal dysplasia clefting syndrome: A case report of its dental management with 2 years follow-up. Case Rep Dent 2020;2020:8418725.  Back to cited text no. 10
    


    Figures

  [Figure 1], [Figure 2], [Figure 3], [Figure 4], [Figure 5], [Figure 6], [Figure 7], [Figure 8], [Figure 9], [Figure 10], [Figure 11], [Figure 12], [Figure 13], [Figure 14]



 

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