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Blistering skin lesions
Question :
Ashwin Borade, Sandeep Kadam, Yashwant Tawade
Department of Neonatology, Inamdar Multispeciality Hospital, Pune` Department of Neonatology, KEM Hospital, Pune` Department of Dermatology, KEM Hospital, Pune

Address for Correspondence: Dr. Ashwin Borade , Inamdar Multispeciality Hospital, S.No.15, Fatima Nagar, Pune 411040, Maharashtra, India. E-mail: ashwinborade@yahoo.com

A one day old male newborn was referred to us with a history of skin sloughing and blistering of the skin since birth. He was born of non-consanguineous marriage vaginally at 38 weeks of gestation to a 2rd gravida mother. There was no significant antenatal or family history. He cried soon after birth. His birth weight was 2.75 Kg. Few blisters and skin sloughing of palm and foot was present {Fig 1, 2}. Nikolky’s sign was negative. There were minimal perioral lesions. Nails were dystrophic. Oral cavity, conjunctiva, cornea, scalp and genitalia were normal. Systemic examination was normal. On 3rd day of discharge, baby died due to infection
What is the diagnosis_?
 
Answer :
Epidermolysis bullosa dystrophica {EBD}. Epidermolysis bullosa {EB} is a group of inherited disorders characterized by blistering of the skin as a result of minor trauma. Diagnosis is based on clinical symptomatology, histopathology, electron microscopy and genetic studies. {1} Major types of Epidermolysis bullosa previously include epidermolysis bullosa simplex, hemidesmosomal epidermolysis bullosa, junctional epidermolysis bullosa, and dystrophic epidermolysis bullosa, on the basis of the level of tissue separation within the cutaneous basement membrane zone. {2} Epidermolysis bullosa dystrophica {EBD} is a rare inherited skin disease generally presenting in newborns. It is characterized by non-inflammatory bullous lesions which can involve the mucous membranes. The different types of EBD include dominant dystrophic which has onset at birth or early infancy, blistering predominates on dorsa of hands, elbows, knee and lower legs, milia with scarring is present. Nail dystrophy will be seen in 80 percent. Recessive form have widespread blistering, scarring, milia deformity like pseudosyndactayly or joint contracture, severe mucosal and nail involvement. Current treatment for epidermolysis bullosa consists of supportive care for skin and other organ systems and entails a combination of wound management, infection support for chronic wounds, surgical management as needed, nutritional support and prevention of complications. {3} Prognosis varies considerably and is based on both EB subtype and the overall health of the patient. {4} The skin should be protected from trauma, including tapes and adhesives. The blister should be punctured with a sterile needle or a blade by leaving the roof of the blister intact. The ideal dressing is yet to be developed, although there are now a variety of suitable dressings available {5}. The affected area should be dressed with white petrolatum–impregnated gauze help optimal healing. Non-adhesive dressing pads or Vaseline-impregnated gauze covered by soft, bulky dressings are ideal. Topical antibiotics, such as mupirocin, may be used prophylactically. {5,6}

References
1. Hon KL, Burd A, Choi PC, Luk NM. Epidermolysis bullosa in three Chinese neonates. J Dermatolog Treat. 2007` 18: 306-311
2. Pai S, Marinkovich MP. Epidermolysis bullosa: new and emerging trends. Am J Clin Dermatol. 2002` 3: 371-380
3. Denyer JE. Wound management for children with epidermolysis bullosa. Dermatol Clin. 2010` 28: 257-64, viii-ix.
4. Fine JD. Inherited epidermolysis bullosa. Orphanet J Rare Dis. 2010` 5: 12
5. Ramesh BY. Epidermolysis Bullosa Simplex. J Clin Diag Res {serial online} 2010 October {cited: 2011 Jun 9}` 4:3215-3216. Available from ww.jcdr.net, back_issues.asp_?issn=0973-709xandyear=2010andmonth=Octoberandvolume=4andissue=5andpage=3215-3216andid=955
6. Schober-Flores C. Epidermolysis bullosa: the challenges of wound care. Dermatol Nurs. 2003` 15: 135-138

E-published: November 2011 Vol 8 Issue 11 Art No. 74