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 Table of Contents  
CASE REPORT
Year : 2016  |  Volume : 17  |  Issue : 1  |  Page : 29-31

Peeling skin in newborn with abdominal distension


1 Department of Paediatric Surgery, Medical College and Hospital, Kolkata, West Bengal, India
2 Department of Dermatology, Medical College and Hospital, Kolkata, West Bengal, India

Date of Web Publication4-Jan-2016

Correspondence Address:
Niharika Ranjan Lal
32, Prince Rahimuddin Lane, Tollygunge, Kolkata - 33, West Bengal
India
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Source of Support: None, Conflict of Interest: None


DOI: 10.4103/2319-7250.173145

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  Abstract 

Epidermolysis bullosa (EB) is a rare hereditary disorder characterized by the formation of blisters following minor trauma. It has been traditionally categorized by the level of basement membrane zone separation into EB simplex, junctional EB, and dystrophic EB. Recently, hemidesmosomal EB has been proposed as a fourth category, which includes EB with muscular dystrophy and EB with pyloric atresia (PA). Among the subtypes, EB with PA is a rare form of EB. We report here a neonate with EB-PA, who, unfortunately, died on the 2nd day of life.

Keywords: Epidermolysis bullosa, peeling skin, pyloric atresia


How to cite this article:
Maitra SK, Das NK, Lal NR. Peeling skin in newborn with abdominal distension. Indian J Paediatr Dermatol 2016;17:29-31

How to cite this URL:
Maitra SK, Das NK, Lal NR. Peeling skin in newborn with abdominal distension. Indian J Paediatr Dermatol [serial online] 2016 [cited 2019 Oct 19];17:29-31. Available from: http://www.ijpd.in/text.asp?2016/17/1/29/173145


  Introduction Top


Epidermolysis bullosa (EB) is an inherited mechanobullous disorder of the skin and is divided into three major categories: EB simplex, dystrophic EB, and junctional EB. Recently, a fourth type, the hemidesmosomal type has been proposed with two subtypes. Mutations in the plectin gene cause EB associated with muscular dystrophy, whereas EB associated with pyloric atresia (PA) results from mutations in the alpha 6 and beta 4 integrin genes.[1] EB-PA is usually lethal, but nonlethal variants have also been reported. The affected individuals with the lethal forms usually die within the 1st weeks or months after birth, whereas, in the nonlethal variants, the clinical severity tends to improve with age.[2]


  Case Report Top


A 1.6 kg male newborn presented with generalized exfoliative skin lesions and nonbilious vomiting since birth [Figure 1]. He was born of a normal vaginal delivery with no evidence of collodion membrane. There was no history of consanguinity, and there was no family history of the similar disorder. The mother was venereal disease research laboratory (VDRL) negative and her skin examination findings were noncontributory. Examination of the skin of the baby revealed the presence of focal areas of erosion over the elbows, near the wrist, and on the chest. Rest of the skin showed no evidence of erythema or inflammation. There was the absence of ectropion/eclabium, but Nikolsky's sign was present. There was sparing of palms and soles though dystrophy of nails was present. Gastrointestinal examination revealed mild epigastric fullness. Rest of the abdomen was scaphoid, and no palpable lump could be felt. Bowel sound was absent. Ten French rubber catheters could be passed per orally and per anum smoothly, as per protocol. The presence of blisters on the skin prompted us to think of staphylococcal scalded skin syndrome, neonatal pemphigus, congenital syphilis and EB and bullous ichthyosiform erythroderma. Keeping these differentials in mind further workup was done. Laboratory examination revealed leukocytosis, hyponatremia, and hypokalemia. Blood culture was negative. Straight X-ray of the abdomen of the baby revealed single gas shadow in upper abdomen with a single bubble appearance [Figure 2]. Ryle's tube aspiration (of nonbilious content), intravenous fluid, and broad spectrum antibiotic was administered. Skin biopsy from the blister area and further evaluation for comorbidities could not be done as the child died on the 2nd day of life due to dyselectrolytemia. Based on clinical and radiological findings, a diagnosis of EB with PA (EB-PA) was made.
Figure 1: Peeling of skin over elbows, knuckles, and chest with underlying erosions

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Figure 2: X-ray of chest and abdomen showing gas shadow in upper abdomen having single bubble appearance

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  Discussion Top


The earliest description of PA is credited to Caleder in 1733, and Swinbure and Kohler first described the association of PA and EB in 1968. This association was then extensively described by Teran.[3] EB-PA is a rare autosomal recessively inherited form of a hemidesmosomal variety of EB [4] which presents at birth with severe mucocutaneous fragility and gastric outlet obstruction.[5] It is caused by genetic mutation in either the alpha 6 or beta 4 integrin genes [5] and the level of separation while being intraepidermal are localized at the inferior aspect of the basal keratinocytes.[4] The lesions are usually widespread over the areas of trauma and can result in atrophic scarring. Most affected children succumb as neonates, as in our case. Those who survive may have severe blistering with the formation of granulation tissue on the skin around the mouth, nose, fingers, toes, and internally around the trachea. However, there are also reports of some affected individuals having little or no blistering later in life.[6] Additional cutaneous features include the congenital localized absence of skin (aplasia cutis congenita), milia, nail dystrophy, scarring alopecia, hypotrichosis, and contractures.[6] Early attempts at feeding result in vomiting which is not bile-stained.[3] The condition is sometimes complicated by the presence of ureteral and renal anomalies, including hydronephrosis, ureterocele, absent bladder, dysplastic kidneys, urinary collecting system/kidney duplication, obstructive uropathy, and glomerulosclerosis.[6] These comorbidities could not be excluded in our case since the baby died on the 2nd day of life. The diagnosis of EB was considered in the neonate because of blistering and erosions since birth which was mainly localized to the trauma-prone areas of the body. A negative VDRL in mother and absence of collodion membrane excluded congenital syphilis and bullous ichthyosiform erythroderma, respectively. SSSS was excluded because of the absence of blisters around oral mucosa, nose, umbilicus, and other flexures and negative blood culture. Nonbilious vomiting, epigastric fullness, and single bubble appearance on X-ray were points in favor of PA. PA should be differentiated from the pyloric membrane, hypertrophic pyloric stenosis, duodenal atresia, annular pancreas, and malrotation with midgut volvulus. Because the clinical features of all subtypes of EB overlap significantly, examination of a skin biopsy is usually required to establish the diagnosis of EB-PA, especially in infants. Examination of a skin biopsy by (1) transmission electron microscopy and/or (2) immunofluorescent antibody/antigen mapping are the best ways to reliably establish the diagnosis of EB-PA.[6] Management for the cutaneous condition is essentially supportive and consists of prevention of infection, avoidance of trauma, and eye care. Management of gastrointestinal complication can vary from excision of the membrane in pyloric membrane variety; gastroduodenostomy (best if feasible); and Roux-en-Y gastrojejunostomy (second best option to restore gastrointestinal continuity). Whereas the surgical management for PA is straightforward, septicemia, electrolyte imbalance, protein loss and failure to thrive complicates the severe exudative skin lesions, often leading to death, and it has led to the recommendation that surgical treatment be withheld in patients with PA-EB.[3] In our case, we had planned for exploration and Roux-en-Y gastrojejunostomy (favored for its technical simplicity and rapidity of the procedure) once the baby was stable, but could not be performed since the baby did not survive in spite of the preoperative supportive care. Prognosis of isolated PA is found to be excellent but the cases associated with EB has a dismal prognosis, as in our case, the baby did not survive until operation could be undertaken.[7]

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.
Kim JH, Park HY, Lee HJ, Eom M, Choi EH. Case of epidermolysis bullosa with pyloric atresia. Ann Dermatol 2011;23 Suppl 1:S41-4.  Back to cited text no. 1
    
2.
Nakamura H, Sawamura D, Goto M, Nakamura H, McMillan JR, Park S, et al. Epidermolysis bullosa simplex associated with pyloric atresia is a novel clinical subtype caused by mutations in the plectin gene (PLEC1). J Mol Diagn 2005;7:28-35.  Back to cited text no. 2
[PUBMED]    
3.
Alam-Sahebpoor A, Ghaffari V, Shokoohi L. Pyloric atresia associated with epidermolysis bullosa: A report of 4 survivals in 5 case. Iran J Pediatr 2007;17:372.  Back to cited text no. 3
    
4.
Marinkovich MP, Bauer EA. Inherited epidermolysis bullosa. In: Wolff K, Goldsmith LA, Katz SI, Gilchrist BA, Paller AS, Lefell DJ, editors. Fitzpatrick's Dermatology in General Medicine. 7th ed. New York: McGraw-Hill; 2008. p. 507-9.  Back to cited text no. 4
    
5.
James WD, Berger TG, Elston MD. Genodermatoses and congenital anomalies. In: Andrews' Diseases of the Skin: Clinical Dermatology. 11th ed. New Delhi: Elsevier Inc.; 2011. p. 548.  Back to cited text no. 5
    
6.
Pfendner EG, Lucky AW. Epidermolysis bullosa with pyloric atresia. In: Adam MP, Ardinger HH, Bird TD, Dolan CR, Wallace SE, Amemiya A, et al., editors. GeneReviews™. Seattle, Washington; 1993. Available from: http://www.ncbi.nlm.nih.gov/books/NBK1157. [Last accessed on 2012 Nov 06].  Back to cited text no. 6
    
7.
Al-Salem AH. Congenital pyloric atresia and associated anomalies. Pediatr Surg Int 2007;23:559-63.  Back to cited text no. 7
    


    Figures

  [Figure 1], [Figure 2]



 

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