|Year : 2022 | Volume
| Issue : 1 | Page : 87-89
Severe epidermolysis bullosa simplex: Series of three cases
Kakali Roy1, Mizanul Haque2, Bidisha Roy3, Birendranath Roy1
1 Department of Pediatrics, Nilratan Sircar Medical College and Hospital, Kolkata, West Bengal, India
2 Department of Pediatrics, Special Newborn Care Unit (SNCU), Burdwan Medical College and Hospital, Bardhaman, West Bengal, India
3 Department of Dermatology, North Bengal Medical College and Hospital, Siliguri, West Bengal, India
|Date of Submission||01-Oct-2021|
|Date of Acceptance||10-Nov-2021|
|Date of Web Publication||31-Dec-2021|
Department of Pediatrics, Nilratan Sircar Medical College and Hospital, Kolkata - 700 012, West Bengal
Source of Support: None, Conflict of Interest: None
Introduction: Epidermolysis bullosa (EB) is a group of genetically determined rare disorders characterized by bullae, vesicles, and erosion of skin and mucous membrane, which can be spontaneous or following friction, minimal trauma, or heat. It has a complex genotype–phenotype correlation with different modes of inheritance and various degrees of presentation and severity. EB can also have extracutaneous manifestations involving oral mucosa, nail, hair, teeth, eye, gastrointestinal tract, and genitourinary system. Depending on the level of skin cleavage, EB is classified into four groups, among which EB simplex (EBS) is most common and further subclassified based on a phenotypical expression. Case Report: We present three cases of severe EBS manifested during the neonatal period with generalized extensive blister and erosion of skin, dystrophic nails, and healing with minimal scar and hypopigmentation. Discussion: Newborn presents with excessive fragile skin with widespread life-threatening blisters making the treatment and nursing care challenging. Proper wound care, prevention of infection, and other complications are the mainstay of treatment.
Keywords: Epidermolysis bullosa simplex, hypopigmented scar, neonatal presentation, nursing care
|How to cite this article:|
Roy K, Haque M, Roy B, Roy B. Severe epidermolysis bullosa simplex: Series of three cases. Indian J Paediatr Dermatol 2022;23:87-9
|How to cite this URL:|
Roy K, Haque M, Roy B, Roy B. Severe epidermolysis bullosa simplex: Series of three cases. Indian J Paediatr Dermatol [serial online] 2022 [cited 2022 Jan 16];23:87-9. Available from: https://www.ijpd.in/text.asp?2022/23/1/87/334667
| Introduction|| |
Epidermolysis bullosa (EB) is a rare group of clinically and genetically heterogeneous inherited disorders characterized by marked mechanical fragility of skin and mucous membrane caused by mutation of structural protein of skin that results out of proportion blister and erosion following minimal frictional trauma. Depending on tissue cleavage of skin at the ultrastructural level, EB is of four major types: EB simplex (EBS), junctional EB, dystrophic EB, and Kindler EB. Prognosis is variable in each group and clinical spectrum is wide from minimal skin affection having a normal life span to death in the neonatal period with severe skin involvement, based on type/subtype and inheritance pattern. According to recent data, the estimated prevalence of EB is eight to ten per million live births. We present three neonates of severe EBS from three tertiary care hospitals of West Bengal, India.
| Case Reports|| |
A day-3 firstborn female baby presented with multiple blisters and erosion of various sizes with well-defined irregular margins at pressure points involving palm, sole, extremities, joints, and trunk. Dystrophic changes were noted in the nails of the hand [Figure 1]. No obvious oral mucosal lesion was noticed. The baby was crying more and was apparently in pain. On handling, the skin was being peeled off, leaving moist erosions with adding up of new lesions. There was no foul smell from the lesions.
A day-11 baby presented with extensive, disseminated large arcuate, grouped blisters and erosion developed spontaneously following minor friction since birth. Normal hygiene procedures such as the use of diapers were a big challenge that caused extensive blistering over the buttock and inner thigh. The baby had large nevi on the right buttock [Figure 2].
A day-8 baby with recurrent widespread large vesiculobullous lesions all over the body managed at neonatal intensive care unit (NICU) and was discharged in stable condition. On follow-up at 9 months of age, the lesions healed with minimal scarring with loss of nails and had generalized postinflammatory erythema and hypopigmentation [Figure 3].
Clinical presentation of the babies was consistent with the diagnosis of EB. Full-thickness skin biopsy for immunofluorescence mapping (IFM) was taken from the freshly induced blister on the leg, which subsequently confirmed EBS. Based on phenotypical features of widespread extensive skin involvement, they were diagnosed as severe EBS, formerly known as EBS. All three babies were born of a nonconsanguineous marriage, uncomplicated pregnancy, and did not have any similar history in the family.
Sepsis was ruled out in babies and was kept separate with the proper precaution to prevent nosocomial infection. Irritability/pain was decreased partially with paracetamol. They were put on oral and topical antibiotics for the prevention of secondary infection at NICU along with nutritional support and micronutrients supplements. Beside a brief period of breastfeeding, fortified expressed breast milk, energy-dense formula feed, and medium-chain triglyceride oil were given orally by the bottle; katori spoon was avoided to prevent trauma. Daily nursing care was a real challenge as even minimal pressure or friction was inducing blisters and erosion. Mothers were encouraged for active involvement and were trained in feeding, wound dressing, diaper change, and handling. We were very careful in preventing trauma during the feed and maintained body temperature without a warmer as heat can induce blisters. Genetic study could not be done because of financial constraints, and parents were advised for the same before planning their next pregnancy along with counseling about the course of disease.
| Discussion|| |
In neonates, subtypes of EB cannot be differentiated clinically as all present with severe life-threatening blisters with or without extracutaneous manifestations. EBS is the most common subtype, mostly with autosomal dominant inheritance, and rarely has autosomal recessive inheritance also. Majority cases have a mutation in keratin genes such as KRT5 and KRT14, resulting in cleavage plane at basal keratinocyte, i.e., intraepidermal. EBS erosions mostly heal without scarring or milia but can have postinflammatory hypo- or hyperpigmentation. Involvement of oral mucosa is a common extracutaneous manifestation, the rest being the involvement of nail, hair, teeth, eye, gastrointestinal tract, and genitourinary system. Our babies did not have apparent extracutaneous manifestations except involvement of the nail. The prognosis of EBS is good, and life expectancy is normal if it survives initial 12–24 months.
Skin biopsy should be of full thickness and from freshly induced blister as a suboptimal specimen with no epithelium or re-epithelialization will cause no yield. Palm and sole are avoided for taking biopsy specimens. Topical anesthesia should not be used as it might induce blisters. IFM is the diagnostic investigation of choice and has high sensitivity and specificity., Genetic heterogeneity (at least 27 known different genes) and complex genotype–phenotype correlation make genetic testing as a second-line investigation and mainly advised in subtype Kindler EB and severe form of EB for pre- and peri-implantation genetic diagnosis in a subsequent pregnancy.
Management is mainly supportive of wound care, prevention and treatment of complications such as infection, nutritional deficiency resulting from a combined effect of feeding difficulties, malabsorption from recurrent mucosal lesions, transcutaneous loss of nutrients, hypercatabolic state from chronic inflammation and infection, accelerated skin turnover, and wound healing. Breastfeed or regular feed should be complemented with nutrient-dense formula and supplement of micronutrients including iron, zinc, selenium, calcium, and Vitamin D. Nutrition should target optimum growth, immunity, and wound healing. Soft stool must be ensured. Pain and itch should be managed appropriately.
Wounds are cleaned with warm sterile normal saline. Padding cover over nonadherent silicone dressing is done. Foam dressing that absorbs exudates is ideal. Diluted bleach bath, topical antiseptic, and antibiotic are used to reduce bacterial colonization of wounds. Antibiotics should be rotated 2–6 weekly with a different agent if prolonged use is required. Systemic antibiotic is needed for frank infection. For neonates, bathing should be delayed till existing lesions heal. Bathing with isotonic salt water decreases pain and removes debris and smell. Physiological saline can be made at home by adding 1 kg pool salt in a full tub of water of 160 L. After a diluted bleach bath (can be prepared by diluting 100 ml bleach in an adult size bathtub), the patient should be rinsed with lukewarm water., To prevent erosion over the diaper area, a thick layer of an equal amount of white and liquid paraffin can be applied and nonelastic diaper should be used.
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
Conflicts of interest
There are no conflicts of interest.
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[Figure 1], [Figure 2], [Figure 3]