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Year : 2014  |  Volume : 15  |  Issue : 1  |  Page : 52

An infant with inherited epidermolysis bullosa simplex


Department of Pediatrics, Chaitanya Hospital, Chandigarh, India

Date of Web Publication2-May-2014

Correspondence Address:
Suresh Kumar
Department of Pediatrics, Chaitanya Hospital, Sector 44, Chandigarh
India
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Source of Support: None, Conflict of Interest: None


DOI: 10.4103/2319-7250.131845

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How to cite this article:
Kumar S, Walia V, Kumar N. An infant with inherited epidermolysis bullosa simplex. Indian J Paediatr Dermatol 2014;15:52

How to cite this URL:
Kumar S, Walia V, Kumar N. An infant with inherited epidermolysis bullosa simplex. Indian J Paediatr Dermatol [serial online] 2014 [cited 2020 Nov 28];15:52. Available from: https://www.ijpd.in/text.asp?2014/15/1/52/131845

Sir,

A 2-month male presented with formations of blisters from day 2 of life onwards, started over buttocks and progressed to involve hands, legs, lower back, [Figure 1]a and face. Blisters were spontaneous in onset but some of them were started at sites of trauma or pressure [Figure 1]b. Some of these blisters ruptured and started to have purulent discharge. The nails were dystrophic with loss of few nails [Figure 1]c, d]. He was treated with intravenous antibiotics for superadded Pseudomonas aeruginosa infection and skin care. Later he succumbed to severe sepsis and multiple organ failure. Epidermolysis bullosa (EB) is a rare hereditary, chronic, non-inflammatory disease of skin and mucous membranes characterized by the development of blisters spontaneously and as a result of minimal trauma or pressure (Nikolsky's sign), friction, and heat. These blisters break easily causing ulcerative lesions and predispose to dehydration, fluid and electrolyte imbalance, malnutrition, and infection. EB is of three types: epidermolysis bullosa simplex (EBS), dystrophic EB, and junctional EB. EBS is of three types: Dowling-Meara EBS, Weber-Cockayne EBS, and Kφbner EBS. Our patient probably has Dowling-Meara EBS which is characterized by onset in newborn period or infancy in form of extreme blistering of the skin, involvement of mucus membranes, nail dystrophy, milia formation, and mild pigmentary changes, without scarring. Hyperkeratosis and hyperhidrosis of palms and soles may develop, but generally, the condition improves with age. Diagnosis is usually clinical but may require genetic testing; and prenatal diagnosis is possible. EBS is caused by mutation in gene encoding keratin 5 or 14. Histopathologically, it is characterized by formation of intradermal bullae resulting from cytolysis of basal cells or rarely acantholysis. There may be tonofilament (TF) clumping which is found in lesional, perilesional, and some non-lesional skin, suggesting that the TF abnormality may be of primary etiological significance in Dowling-Meara EBS. The treatment is supportive and preventive including wound management, nutritional support, infection control, patient education and periodic follow up.
Figure 1: Clinical photographs showing (a) erosions and crusted lesions over buttock, lower back and leg, (b) blister formation over forearm after minimal trauma (Nikolsky's sign), (c and d) dystrophic nails

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