DiagnosisHow to Take Skin Biopsies for Epidermolysis Bullosa
Section snippets
Basic Materials
Rubber eraser or pencil with rubber eraser (to induce a new blister)
Suture set containing tissue forceps, needle holder, and scissors
Biopsy punches (2 mm, 3 mm)
Suture material (4-0 or 5-0 nonabsorbable or absorbable sutures)
Antiseptic, nonstick dressings.
IF mapping
Normal saline (0.9% sodium chloride) solution or liquid nitrogen (for storage <24 hours) is ideal6
Michel medium (for storage from 24 hours to 6 weeks ).6, 7
Electron microscopy
2.5% glutaraldehyde or appropriate fixative.
Preparing the patient
As in all surgical procedures, before any biopsy, informed consent must be taken from the patients or from parents in case the patient is a minor.
Choose an area of skin that seems clinically unaffected but preferably adjacent to the site where the patient usually gets blisters (ie, on the arms or legs). In neonates with more extensive forms of EB, a nonblistered site that has been freshly rubbed, such as the lower abdomen or the upper inner arm just above the elbow, is usually suitable. Skin
The skin biopsy procedure
Clean the selected area of skin with an antiseptic or alcohol and drape it. Anesthetize with 1% lignocaine (and adrenaline to minimize bleeding) to raise a bleb (Fig. 3). When this procedure is preplanned in a child, a cream of a eutectic mixture of local anesthetics may be applied under occlusion to the site for 2 hours beforehand to minimize the discomfort.10
Perform a 3-mm punch biopsy using a twisting movement from the rubbed area (Fig. 4) and place it in Michel's solution (the same
Instructions for patients postprocedure
As with any skin biopsy procedure, advise the patient to keep the area dry for the first 24 hours. The biopsy site may be dressed daily with an antibiotic ointment and nonstick dressing. The sutures are to be removed in a week's time if nonabsorbable sutures were used. Arrange to see the patients again when the results are available, usually in 1 or 2 weeks postprocedure.
References (10)
Laboratory tests for epidermolysis bullosa
Dermatol Clin
(1994)- et al.
Immunofluorescence mapping of antigenic determinants within the dermal-epidermal junction in the mechanobullous diseases
J Invest Dermatol
(1981) - et al.
Immunopathological techniques in the diagnosis of bullous disorders
Acta Derm Venereol Suppl (Stockh)
(1989) - et al.
Electron microscopy and morphometry enhances differentiation of epidermolysis bullosa subtypes. With normal values for 24 parameters in skin
Arch Dermatol Res
(1997) - et al.
A comparative study between the transmission electron microscopy and immunofluorescence mapping in the diagnosis of epidermolysis bullosa
Am J Dermatopathol
(2006)
Cited by (30)
Where and how to make a skin biopsy
2018, PielApplication of whole exome sequencing in elucidating the phenotype and genotype spectrum of junctional epidermolysis bullosa: A preliminary experience of a tertiary care centre in India
2017, Journal of Dermatological ScienceCitation Excerpt :The Institutional Ethics Committee approved the study (IEC No: IESC/T-147/04.04.2014). A 3 mm punch biopsy was taken from normal appearing skin, mostly on the thigh, in all the affected patients [11] and was subjected to IFM with a panel of commercially available mouse monoclonal antibodies that included keratin 14 [NCL-LL002 (1:50), Novocastra, Newcastle, UK]; type IV collagen [CIV-22 (1:100), Dako, Carpentaria, CA], type VII collagen [NCL-COLL-VII (1:50), Novocastra, Newcastle, UK] and laminin-332 (formerly laminin-5) [P3H9-2 (1:50), AbCam, UK]. Unfortunately, antibodies for integrin’s α6, β4 and type XVII collagen could not be procured due to administrative reasons.
Ocular manifestations of genetic skin disorders
2016, Clinics in DermatologyCitation Excerpt :In general, EB simplex has the mildest presentation (Figure 5), whereas dystrophic EB has the most severe. Several comprehensive reviews are available discussing the cutaneous findings,27 extracutaneous findings,28,29 diagnosis,30–35 and management36–54 of EB, so only the ocular complications and management are discussed here. Of 3280 patients enrolled in the National Epidermolysis Bullosa Registry, corneal erosions and blisters were the most common ocular manifestations.
Assays to Study Consequences of Cytoplasmic Intermediate Filament Mutations: The Case of Epidermal Keratins
2016, Methods in EnzymologyCitation Excerpt :In milder cases, the blister can take longer to appear and may need additional mechanical stress. If any skin damage or tearing is seen immediately, mechanical stress is stopped and the biopsy taken (Intong & Murrell, 2010). For optimum discrimination of immunohistochemistry, samples should be snap-frozen as soon as possible after excision.
Evaluation and treatment of the newborn with epidermolysis bullosa
2013, Seminars in PerinatologyCitation Excerpt :Ideally, a fresh blister should be induced by firmly applying a pencil eraser to an area of skin nearby the blistered skin, and rotating it laterally back and forth until mild erythema appears.13 It is recommended to wait at least 5 min for a blister to develop microscopically before taking the biopsy.13 As described above, many different subtypes of EB, including mild and severe variants, can present with blistering at birth.