Saturday, March 19, 2016

Bullae and Erosions in a Newborn

Presented by Dr. Henry Foong
Ipoh, Malaysia

This 20-day-old baby presented with multiple blisters on the hands and feet.  The mother first noticed them on Day 2 after a normal delivery when there were blisters on the hands.  Subsequently, she noticed blisters on the feet as well.  These blisters ruptured easily on friction or minimal rubbing. Recently he has difficulty in swallowing as well. There was no fever.  No family history of similar problems and no history of consanguinity in the family.

He has seen paediatricians and dermatologists but his condition did not improve.

The child looks fretful.  Superficial erosions with crusts were mainly noted on his hands and feet.  A superficial bulla 0.5 x 0.5 cm was present on the left index finger.  Mucosa of the lips appeared eroded.  These was no nail involvement.

Do you see this condition? How do you manage this in your institution? I guess this will be a tough management problem for the child and the family.

 Diagnosis:  This child most likely has epidermolysis bullosa, probably recessive dystrophic EB, although the Hurlitz type needs to be considered as well. 

Our pediatric dermatologists can help with management suggestions. 

Definitive diagnosis can be obtained with biopsy.  In the past, electron microscopy was utilized, but there may be simpler studies.

Note:  At an appropriate time, if the diagnosis is more certain, the parents might want to visit the DEBRA site. There is a resources in Malaysian, in addition: DebraMalaysia.

1. Recessive Dystrophic Epidermolysis Bullosa
A Review of Disease Pathogenesis and Update on Future Therapies
Luis Soro, DO et. al  J Clin Aesthet Dermatol. 2015. 8(5): 41–46.
Abstract: Objective: Review the pathogenesis of recessive dystrophic epidermolysis bullosa and provide an update on research currently underway that is aimed at treating and potentially curing this severe skin disorder. Design: Review article. Setting: Private practice and large teaching hospital. Participants: None. Measurements: N/A. Results: Currently, patients with recessive dystrophic epidermolysis bullosa are managed with only supportive care. However, there are several promising new treatment avenues that may help patients in the future. These include gene therapy, cell therapy, and protein-based therapy. Each approach offers distinct advantages and disadvantages. Conclusions: The advances in understanding the molecular basis for epidermolysis bullosa over the last few decades has led to significant progress in devising new treatment options. Though many of these approaches remain several years away from regular implementation, it is an exciting time for research in the field.  Free Full Text.

2. Recessive Dystrophic Epidermolysis Bullosa: Advances in the Laboratory Leading to New Therapies. Woodley DT, Chen M. J Invest Dermatol. 2015;135(7):1705-7.  Free Full Text.


  1. This is an extremely challenging condition to manage, requiring frequent office visits and plenty of time devoted to support the child and parents. The DEBRA website is very helpful, as is the Stanford EB website which has videos of bandaging techniques.

    Assuming there is no family history of EB, then junctional EB or recessive dystrophic EB are the most likely. Most of the newborns that I have seen with extensive skin blistering in the first 8 weeks of life have ended up having junctional EB (JEB), which is inherited in an autosomal recessive pattern. There is unfortunately no way to clinically diagnose a specific subtype, but involvement of the pinnae of the ears and the buttocks are typical in JEB, as is a hoarse cry. I find one of the most difficult things about caring for newborns with this diagnosis is that the degree of cutaneous involvement in infancy does not correlate with the likelihood of mortality. In other words, an infant with JEB who has severe skin involvement in the first year of life may survive into childhood, while another infant with JEB who has mild skin manifestations may die in infancy. I always do an induced blister skin biopsy and send for electron microscopy and immunohistochemistry to help identify subtype.

    Failure to thrive due to increased metabolic demands is almost universal in these children, so early involvement of a nutritionist is key. Most infants with severe forms of EB need additional zinc, calcium, vitamin D, and iron supplementation in their diet. If there is oral involvement, special bottle nipples (e.g. Haberman feeder) can be very helpful to minimize oral blistering and increase caloric intake.

  2. From Yoon Cohen, Phoenix, Arizona: agree with David that this infant probably has Epidermolysis Bullosa. I think it can be either Junctional or Dystrophic type considering the thickness of the erosion.
    Because an accurate diagnosis of the type (subtype) of EB is often challenging in the neonatal period, a skin biopsy should be obtained at least. I think additional biopsies for immunofluorescence microscopy or transmission electron microscopy can be helpful to identify the EB type and subtype. However, at my hospital, most patients who we suspect for EB goes through the genetic testing, as a confirmatory test.

    As for the biopsy, it is important to obtain a biopsy from a freshly induced blister. Here are the steps how to induce a blister in EB pts (this is a from Neonatal/Infant Dermatology Textbook)

    1. Choose an area of unaffected skin, preferably where it is day to stabilize the baby. The upper arm, upper leg, or flank work well
    2. Mark the area that will be biopsies by drawing a small (6 mm) circle on the skin
    3. After anesthetizing the area, using form pressure, twist a clean pencil eraser firmly back and forth within the marked area for at least 10-15 seconds. If a pencil is not available, rub the marked area firmly with a gloved finger for at least 15seconds. Erythema should be visible, but a blister probably will not be apparent to the naked eye
    4. Then, obtain a biopsy. aiming for approximately one-third of the induced blister ( the skin within the marked area) and two-thirds normal skin

    These steps will help with reaching the correct diagnosis as it is important to see the separation accurately.

    The management can be very challenging as this is a long-long skin (more than skin) condition, and currently not curable. The goal of treatments is to maintain the healthy of the pt and support the family.
    Taking care of wound healing, preventing and treating skin infection, helping with pain, and providing adequate nutrition would be important for these kids.

    For the more detailed information on the management of neonate EB pts, I put together in a word document from the textbook.
    Here are some more helpful resources.

    This is a tough diagnosis to make and to live with.
    Please feel free to reach me anytime with any questions. I think Julianne or other peds derm on the list may have great pearls too.
    I look forward to hearing from them

  3. From Valencia Long, Singapore: Usually when faced with an infant with blisters, would probably be good to rule out intrauterine infections such as HSV, neonatal varicella etc. Incontinenia pigmenti can present with vesicles but I doubt these blisters which appear quite huge fit. Even diffuse cutaneous mastocytosis may present with extensive blistering.

    However my main consideration would probably be epidermolysis bullosa. As to which subtype I am not able to accurately tell clinically - but some guesses:

    EB simplex (localized) - fits his baby with predominantly hands and feet involvement with mild Oral involvement

    EBS dowling meara type - usually severe, with nail dystrophy but this child doesn't have. Also interestingly this type is most classically described as presenting with blisters in annular configuration (not in this child - just thought it was interesting to bring up). Oral blistering may cause swallowing problems though.

    There is both JEB and EB with pyloric atresia but those usually present with GI obstruction (vomitting etc) with polyhydraminos on ultrasound. Unlikely.

    ?recessive DEB - usually very severe phenotype with atrophic scarring and commonly has extra cutaneous involvement. Oral ulcers are very common with dysphagia.

    There is one variant of DEB I am considering - that is transient bullous dermolysis of the newborn - usually happens quite near Birth and may improve or remit dramatically within first year of life. Usually benign.

  4. from Aimee Smidt, University of New Mexico:
    Supportive/wound care; reference material at and/or is helpful
    Biopsy for immunostaining (we send to Stanford) for diagnosis


We welcome your comments. We endeavor to serve your patients and you. If you want us to respond, please add your name and email address. Some people have trouble uploading comments. In that case, please send comments directly to Thank you.