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CASE REPORT
Year : 2021  |  Volume : 26  |  Issue : 4  |  Page : 256-258
 

Congenital pyloric atresia and epidermolysis bullosa: Report of a rare association


Pediatric Surgery Unit, Ashish Hospital and Research Centre, Jabalpur, Madhya Pradesh, India

Date of Submission30-Apr-2020
Date of Decision19-Jul-2020
Date of Acceptance24-Jan-2021
Date of Web Publication12-Jul-2021

Correspondence Address:
Dr. Pradyumna Pan
Pediatric Surgery Unit, Ashish Hospital and Research Centre, Jabalpur - 482 001, Madhya Pradesh
India
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Source of Support: None, Conflict of Interest: None


DOI: 10.4103/jiaps.JIAPS_125_20

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   Abstract 


Pyloric atresia (PA) is an unusual congenital disorder that accounts for about 1% of all intestinal atresia, with an incidence around 1 in 100,000 live births. PA may occur as an isolated disorder or may be associated with epidermolysis bullosa (EB). EB comprises a heterogeneous group of cutaneous genetic diseases of inherited blistering and skin fragility disorders. Wound management in EB is complex and influenced by several comorbidities and the fragility of the skin. The prognosis of children with EB depends on the type of mutation inherited. Some types are mild and even improve with age, while others are so severe it is not likely that a child to survive into adulthood. We present three cases of PA in this article and one in conjunction with junctional EB.


Keywords: Epidermolysis bullosa, management, pyloric atresia


How to cite this article:
Pan P. Congenital pyloric atresia and epidermolysis bullosa: Report of a rare association. J Indian Assoc Pediatr Surg 2021;26:256-8

How to cite this URL:
Pan P. Congenital pyloric atresia and epidermolysis bullosa: Report of a rare association. J Indian Assoc Pediatr Surg [serial online] 2021 [cited 2021 Jul 30];26:256-8. Available from: https://www.jiaps.com/text.asp?2021/26/4/256/321084





   Introduction Top


Pyloric atresia (PA) is a rare congenital condition that typically arises as a single gastrointestinal lesion but may be associated with other intestinal atresia and a rare skin disorder – epidermolysis bullosa (EB). We report three cases of PA and an associated anomaly of EB in one.


   Case Report Top


Three cases with the diagnosis of PA were treated; two were males. The age at diagnosis was 3.3 ± 0.5 days, and weight was 2.38 ± 0.2 kg. Nonbilious vomiting and upper abdominal distension were the main presenting symptoms. The diagnosis was made on an abdominal X-ray [Figure 1]a preoperatively in all cases, showing a single large air bubble reflecting the dilated stomach with no distal gas. The contrast study of the abdomen revealed a distended stomach and nonpassage of contrast beyond pylorus [Figure 1]b. All patients underwent surgery. Two patients diagnosed with pyloric diaphragms (type I) had Heineke–Mikulicz pyloroplasty and diaphragm excision. Another had PA without a gap (type 2), for which Heineke–Mikulicz pyloroplasty was performed. Postoperative recovery was uneventful.
Figure 1: (a) Scout film abdominal showing the dilated stomach without any bowel gas distally. (b) Upper gastrointestinal contrast study demonstrating the pyloric obstruction with a distended stomach and no dye distally

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EB was seen in one female child presented with a blistering vesicular lesion on the dorsum of the left hand on 24th day of life [Figure 2]. The lesions slowly spread toward the left upper extremity. Oral blisters were not seen, and difficulty in feedings was not present. The patient did not have any family history of similar lesions. At the time of visceral handling during surgical procedure, there were no unusual findings noted. Physical examination showed vesicles and bullae of several variable sizes on the extremity. A medium level of serosanguineous exudate was present. Adherent crust and minimal hemorrhagic erosion were seen. A partial detachment of the dead tissue was done in some area. The lesions were confined to left upper limb. Few lesions showed erosions, and patches were crusted. Initially, daily inspection of wound and dressing was done. As the exudate and hemorrhagic oozing reduced by 5 days, the dressing was done in alternate days. A gradual improvement of the lesions was observed in 11 days. There were epithelialized areas and decreased depth of the lesions. The child was discharged on 13th day when significant epithelialization in 90% of the lesions has occurred. The caregivers were adequately trained and were able to perform all the necessary care that EB demands upon hospital discharge.
Figure 2: Clinical photo showing blister and erosion on the dorsal aspect of the hand and forearm

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Wound management

  1. It was done with maximum sterility
  2. All blisters were sucked with a hypodermic needle, leaving the blister roof in situ
  3. The open wounds were covered with hydrocolloids (Duoderm thin)
  4. The entire limb was covered with overlap dressing and secure by taping to itself. Adhesive tape was not used
  5. All methods adopted to reduce friction and use of measures to keep the ambient temperature cool
  6. To protect the intact skin, moisturizer was used.


A biopsy taken from a bulla showed separation of the epidermis from the dermis at the level of the dermoepidermal junction without the infiltration of inflammatory cells [Figure 3].
Figure 3: Histopathologic findings showing the (A) epidermis, (B) separation, and (C) dermis at the level of the dermo-epidermal junction with minimal inflammatory infiltrate within the dermis (H and E, × 100)

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Follow-up at age 6 months revealed that she had remained asymptomatic with few eruptions.


   Discussion Top


PA is a very rare condition with an occurrence of about 1 in 100,000 newborns and constitutes about 1% of all intestinal atresia.[1] Calder reported the first case of CPA in 1749 and Touroff performed the first successful operation in 1940. It is suspected to be the result of developmental arrest between the 5th and 12th weeks of intrauterine life,[2] but definite etiology of the PA has not been established. Nonetheless, the literature indicates possibilities such as genetic predisposition, familial inheritance, and potential intrauterine incidents such as failure of canalization or a vascular event.[3]

PA is divided anatomically into three types:[4]

  • Type 1 – Pyloric membrane or web
  • Type 2 – Pyloric tissue replaced by solid cord/tissue
  • Type 3 – PA with a gap between stomach and duodenum.


Because of their excessive oral secretions, neonates with PA often suffer apnea, vomiting, or respiratory distress. Early nasogastric tube insertion and aspiration potentially decrease the risk of respiratory complications in these children. PA diagnosis is based on the appearance on plain abdominal X-ray of a single large gastric air bubble, with no gas distally.

The PA can be suspected on antenatal scan with sonographic features of polyhydramnios with a dilated stomach but without a double bubble.

Related abnormalities such as junctional EB, ureteral, and renal anomalies (dysplastic/multicystic kidney, hydroureteronephrosis, ureterocele, duplicated renal collecting system, and absent bladder), congenital absence of skin, nail dystrophy, and multiple colonic atresia have been identified and occur in 40%–55% of the cases.[4]

The association of EB and congenital PA is known as Carmi Syndrome. Epidermal bullosa is a category of inherited skin disorders with a characteristic appearance of blistering vesicular lesions at or shortly after birth. The incidence of Carmi Syndrome is 1: 300,000 and is associated with a high mortality rate, but good long-term survival is also reported in the literature.

EB with PA (EB-PA) is a genetic condition inherited in an autosomal recessive pattern that affects the skin and digestive tract.[5] Affected infants are often born with widespread blistering and areas of missing skin. Blisters continue to appear in response to minor injury or friction.[5] Mutations in the genes ITGA6, ITGB4, and PLEC cause Carmi Syndrome. The most common cause is ITGB4 gene mutations (80%).[5] These genes produce proteins known as α6 β4 integrin which provide instructions with essential roles in the skin and digestive tract. This protein plays a vital role in protecting and stabilizing the surface by helping to bind to the underlying layers. A lack of functional α6 β4 integrin induces weak and easily damaged cells. Friction or other minor trauma can cause separation of the layers of the skin, leading to blister formation. About 15% of all EB-PA cases result from PLEC gene mutations which provide instructions for making a protein called plectin.[5]

With the correction of the fluid and electrolyte imbalance before surgery, one must ensure that the stomach is fully decompressed. Different types of PA require specific surgical procedures. Type 1 defect requires an excision of the web, whereas for a Type 2 PA, the standard treatment is a Finney or Heineke–Mikulicz pyloroplasty. A Type 3 lesion necessitates a gastroduodenostomy. Intraoperatively, testing the patency of the remaining intestines is of paramount importance.

Isolated CPA has a good prognosis. The overall high mortality above 50% is due to the high incidence of associated serious and sometimes fatal anomalies. There are no specific modalities for treating EB. Proper dressing, infection prevention, and nutritional supplements are included in the management. Local inflammation can be treated with topical steroids.

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 initial s 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.
Muller M, Morger R, Engert J. Pyloric atresia: Report of two cases and review of literature. Pediatr Surg Int 1990;5:276-9.  Back to cited text no. 1
    
2.
Puri P, Fulimoto T. New observation of pathogenesis of multiple atresia. J Pediatr Surg 1988;23:221-5.  Back to cited text no. 2
    
3.
Ashcraft KW, Holder TM. Pediatric Surgery. 2nd ed. Philadelphia, PA: WB Saunders; 2000. p. 295.  Back to cited text no. 3
    
4.
Gupta R, Soni V, Mathur P, Goyal RB. Congenital pyloric atresia and associated anomalies: A case series. J Neonatal Surg 2013;2:40-3.  Back to cited text no. 4
    
5.
Epidermolysis Bullosa with Pyloric Atresia. Genetics Home Reference. Available from: www.htpps://ghr.nlm.nih.gov/condition/epidermolysis-bullosa-pyloric-atresia. [Last accessed on 20 Jan 2020].  Back to cited text no. 5
    


    Figures

  [Figure 1], [Figure 2], [Figure 3]



 

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