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Advances in dermatology and venereology Acta Dermato-Venereologica
Successful Multidisciplinary Treatment of Chronic Facial Wounds in Junctional Epidermolysis Bullosa
Antonia REIMER 1, 2, Roland LASZIG 3, Jens PFEIFFER 3, Philipp EBERWEIN 4, Hans MITTELVIEFHAUS 4, Leena BRUCKNER- TUDERMAN 1 and Cristina HAS 1
1
Department of Dermatology and Venereology, 3 Department of Otorhinolaryngology and 4 Department of Ophthalmology, Medical Center, Faculty of Medicine, University of Freiburg, and 2 Berta-Ottenstein-Programme, Faculty of Medicine, University of Freiburg, Freiburg, Germany. E-mail: cristina. has @ uniklinik-freiburg. de Accepted Mar 27, 2018; Epub ahead of print Mar 27, 2018
Junctional epidermolysis bullosa( JEB) is a hereditary blistering disease caused by reduced dermal – epidermal adhesion due to deficiencies in laminin 332, collagen XVII or integrin a6b4( 1). In JEB caused by laminin 332 deficiency, chronic wounds appearing in infancy can be extremely resistant to therapy, and may determine a severe course( 2) and lethal outcome( 3). We report here a successful multidisciplinary approach used to treat severe chronic hypergranulating facial wounds and scarring in 2 siblings with JEB generalized-intermediate due to a LAMB3 splice site mutation.
CASE REPORTS
The children were born to healthy consanguineous parents from Libya.
The girl( case 1) first presented to our centre at the age of 9 years 2 months. Mild skin blistering had started at birth, and her nails were missing. After the age of 8 years, she developed chronic wounds on her neck and nose, leading to progressively blocked nostrils( Fig. 1a). Oral blistering was reported, and her teeth showed mild enamel defects. Her weight( 23.7 kg) was in the low normal range. She had microcytic anaemia( haemoglobin 5.5 g / l, normal 12 – 16 g / dl) and vitamin D deficiency( 4.4 ng / ml, normal 20 – 70 ng / ml).
Her brother( case 2) was first seen at the age of 4 years 5 months. Blistering had also started at birth, nails were missing and he had amelogenesis imperfecta. The boy had had severe facial wounds since infancy. His nostrils were blocked by scarring, so that only oral breathing was possible and his sleep was disturbed. Shrinkage of the eyelid tissue had led to ectropion of both upper and lower lids with consecutive lagophthalmos and exposure keratoconjunctivitis( Fig. 1d). The boy experienced feeding difficulties due to obligate oral breathing and was underweight( 14.2 kg, just above the 3 rd percentile( 4)) with severe microcytic anaemia( haemoglobin 4.8 g / l).
Wound swabs revealed Streptococcus pyogenes( Group A), and methicillin-resistant Staphylococcus aureus( MRSA) was isolated repeatedly. Fungal superinfections and leishmaniosis were ruled out.
Immunofluorescence mapping( 5) showed junctional skin cleavage with almost complete depletion of laminin 332. Mutation analysis identified the homozygous splice-site mutation c. 2701 + 1G > A in exon 18 of LAMB3. Both parents were heterozygous for c. 2701 + 1G > A.
When the siblings had just moved to Germany, wound care was delivered by the parents, but was mainly refused by the boy. Olive oil was applied for skin care. Fusidic acid alone, or with betamethasone( Fucidine ® / Fucicort ®) had been used for more than one year up to
3 times daily with no effect; discontinuation lead to worsening of the wounds. Systemic antibiotics had been administered intermittently. Surgical interventions were avoided because of the severe inflammation and scarring around the designated operation sites.
Topical treatment with antiseptics( polyhexanide), steroids( prednicarbate, halometasone / triclosan cream( Infectocortisept ®)), as well as panthenol ointment, 1 % coriander oil in cold cream and soft zinc paste, was initiated. Streptococcus pyogenes infections were treated with oral penicillin V and MRSA colonisation with a standard regime.
Fig. 1. Case 1( upper panel) and case 2( lower panel) with chronic facial wounds in junctional epidermolysis bullosa generalized-intermediate. At initial presentation, mid-facial wounds, crusts and scarring were present in both siblings.( a, d) Note the completely obstructed nostril and the ectropion in the boy( d). During the course of treatment, wound size decreased and crusts reduced.( b, e) At last presentation, mostly post-inflammatory hyper- and hypo-pigmentation and few crusts were present.( c, f) Nasal placeholders were inserted to relieve nasal obstruction; they were removed after 1 month in the girl with a good cosmetic and functional result( c). In the boy, nasal tubes were replaced twice and are currently still in place( f). The boy’ s ectropion on the right eyelid was corrected using an autogenous skin graft from the upper arm for the upper eyelid and tarsorraphy was performed for the lower eyelid( e; 3 weeks after surgery). After postoperative swelling had resolved, the functional result is good and the cosmetic result satisfactory, but ectropion on the left eye shows progress( f). Age at photography is indicated in years( y) and months( m). Written permissions are given by the parents to publish these photos.
This is an open access article under the CC BY-NC license. www. medicaljournals. se / acta Journal Compilation © 2018 Acta Dermato-Venereologica. doi: 10.2340 / 00015555-2934 Acta Derm Venereol 2018; 98: 711 – 712