|Year : 2020 | Volume
| Issue : 4 | Page : 316-318
The use of immunofluorescence antigen mapping in the diagnosis of junctional epidermolysis bullosa in a 15-year-old female
Ankita Choudhary, Deval Mistry, Rima Joshi, Bela Shah
Department of Dermatology, Civil Hospital, B.J. Medical College, Ahmedabad, Gujarat, India
|Date of Submission||23-May-2020|
|Date of Decision||27-May-2020|
|Date of Acceptance||14-Jun-2020|
|Date of Web Publication||30-Sep-2020|
Dr. Deval Mistry
C/11 Murdhanya Apartment, Opp. Torrent Zonal Office, B/H Bhoomi Party Plot, Naranpura, Ahmedabad - 380 013, Gujarat
Source of Support: None, Conflict of Interest: None
Epidermolysis bullosa (EB) comprises a group of genetically determined skin fragility disorders, characterized by blistering of the skin and mucosae following mechanical trauma, which includes four major forms (EB simplex, junctional EB [JEB], dystrophic EB, and Kindler syndrome) with various distinctive clinical phenotypes. We report a rare case of a 15-year-old female diagnosed as JEB (generalized intermediate), with the help of immunofluorescence antigen mapping.
Keywords: Immunofluorescence antigen mapping, junctional epidermolysis bullosa, laminin 332
|How to cite this article:|
Choudhary A, Mistry D, Joshi R, Shah B. The use of immunofluorescence antigen mapping in the diagnosis of junctional epidermolysis bullosa in a 15-year-old female. Indian J Paediatr Dermatol 2020;21:316-8
|How to cite this URL:|
Choudhary A, Mistry D, Joshi R, Shah B. The use of immunofluorescence antigen mapping in the diagnosis of junctional epidermolysis bullosa in a 15-year-old female. Indian J Paediatr Dermatol [serial online] 2020 [cited 2020 Oct 28];21:316-8. Available from: https://www.ijpd.in/text.asp?2020/21/4/316/296865
| Introduction|| |
Epidermolysis bullosa (EB) is an inherited mechanobullous disorder, caused by mutations within genes encoding structural proteins residing within the epidermis (EB simplex), dermoepidermal junction (junctional EB [JEB]), or uppermost papillary dermis (dystrophic EB). Current diagnostic techniques such as immunofluorescence antigen mapping help in the subclassification of EB, as well as enable a clinician to counsel patients and parents regarding prognosis of the disease.
We describe a rare sporadic case of a 15-year-old female who presented with complaints of recurrent blistering over sites of trauma, since infancy, who was diagnosed as JEB (generalized intermediate) with the help of antigen mapping.
| Case Report|| |
A 15-year-old female born out of nonconsanguineous parentage presented to the dermatology department with complaints of recurrent fluid-filled lesions at sites of trauma that healed with scarring, since 6 months of age. The patient gave a history of gradual reduction in the severity of blistering with age. Family history was negative, and the patient had no history of dysphagia, hoarseness of voice, respiratory difficulty, photoaggravation, koebnerization, and ocular or genitourinary complaints. Birth history and developmental history were unremarkable.
The patient was of average built and nourishment, with height measuring 151 cm and weight measuring 52 kg. Local examination revealed few flaccid bullae, multiple painful erosions with reddish granulation tissue, and atrophic scars present over the buttocks, back, and bilateral upper and lower limbs, with predominance over the bony prominences of the elbows and knees [Figure 1] and [Figure 2]. Multiple focal yellowish hyperkeratotic plaques interspersed with atrophic scarring were present on the palms and soles [Figure 3]. All fingers and toes showed anonychia along with resorption of great toes [Figure 4]. Postinflammatory hyperpigmentation was present predominantly over thighs, legs, back, buttocks, and around elbows. Dental examination revealed enamel hypoplasia along with yellowish discoloration of the teeth and pitting. The systemic examination was normal. Clinical differential diagnoses in this patient included JEB (generalized intermediate), JEB (generalized severe) followed by dystrophic EB and EB simplex [Table 1].
|Figure 1: Few flaccid bullae along with erosions and granulation tissue present over the bilateral legs with predominance over the knees and atrophic scarring over the bilateral elbows|
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|Figure 2: Few erosions with reddish granulation tissue over the bilateral buttocks along with postinflammatory hyperpigmentation|
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|Figure 3: Multiple focal yellowish hyperkeratotic plaques along with atrophic scarring over the bilateral palms and soles|
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|Figure 4: Anonychia of all fingers and toes along with few atrophic scars over the dorsa of the bilateral hands and resorption of great toes|
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|Table 1: Differential diagnosis with salient clinical features and findings of immunofluorescence antigen mapping|
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Routine blood investigations were normal. Urine for porphyrins was negative. A 3-mm shave biopsy was taken from an artificially induced blister over the lower back, produced by gentle rubbing of the skin, until mild erythema was noted. The biopsy specimen was then placed in Michel's medium and transported to the laboratory for antigen mapping. Immunofluorescence antigen mapping revealed a subepidermal split with marked reduction in staining with laminin 332 [Figure 5]. There was normal K14 staining. Staining with Type IV and Type VII collagen was seen on the floor.
|Figure 5: Immunofluorescence antigen mapping showing subepidermal split, marked reduction in staining with laminin 332 along with normal staining of K14, Type VII collagen, and Type IV collagen (localized to blister floor), which was consistent with the diagnosis of junctional epidermolysis bullosa|
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Based on the above clinical and investigatory findings, a diagnosis of JEB (generalized intermediate) was made. An intensive preventive program including wound care, avoidance of trauma, oral hygiene, and genetic counseling was instituted. The patient is under regular follow-up.
| Discussion|| |
Inherited EB is the prototypic mechanobullous disease characterized by blistering of the skin and mucosae, following mild mechanical trauma. EB encompasses four major forms (EB simplex, JEB, dystrophic EB, and Kindler syndrome) based on the modes of inheritance and level of split.
Generalized JEB is subdivided into severe-, intermediate-, and late-onset variants, as well as subtypes associated with either pyloric atresia or respiratory and renal involvement. The mode of inheritance is predominantly autosomal recessive. However, in our patient, the pedigree analysis was found to be normal.
Generalized intermediate JEB (previously known as JEB–non-Herlitz), caused by mutations within the genes for either a subunit of laminin 332 or Type XVII collagen, is a less severe variant of JEB characterized by gradual reduction in the severity of skin fragility and blistering, with the patients usually surviving to adulthood. Other findings include dental anomalies, mucous membrane involvement of lesser severity, formation of granulation tissue, atrophic scarring, dystrophic or missing nails, alopecia, postinflammatory hypopigmentation or depigmentation, and usual absence of milia formation. Most of the findings were consistent with our case.
Antigen mapping is a modified immunofluorescence technique employed to distinguish various major types of hereditary EB. Shave biopsy is the preferred technique as the traction of the punch may dislodge the epidermis, especially in severe variants of EB. Frozen sections of the patient's skin are stained with commercially available monoclonal antibodies directed against different antigenic components of basement membrane zone/epidermis, such as keratin 5/14 (K5/14), laminin 332, Type VII collagen, and Type IV collagen. Normal healthy skin is used as a control for comparing the staining pattern of patient's skin. Subclassification of EB is possible by determining the staining pattern of monoclonal antibodies with respect to the cleft seen in the frozen section. Antigen mapping in our case showed subepidermal split, marked reduction in staining with laminin 332 along with normal staining of K14, Type VII collagen, and Type IV collagen (localized to the blister floor), which was consistent with the diagnosis of JEB.
Even though transmission electron microscopy (TEM) is considered the gold standard laboratory test for differentiation between various forms of EB, the diagnostic precision of immunofluorescence antigen mapping is similar to that of TEM with the advantage that it is simpler and faster to perform and interpret as well as less expensive. The treatment of EB is mainly palliative with the ultimate aim of providing an improved quality of life through a multidisciplinary approach of various specialties.
Apart from the study by Hiremagalore et al., there have not been any reports of JEB diagnosed on the basis of antigen mapping in the Indian setup. We report this rare sporadic case of a 15-year-old female with JEB (generalized intermediate), which we confirmed with the help of immunofluorescence antigen mapping.
Declaration of patient consent
The authors certify that they have obtained all appropriate patient consent forms. In the form, the patient's father has given his consent for the patient's images and other clinical information to be reported in the journal. The patient's father understands that the patient's name and initials will not be published and due efforts will be made to conceal their identity, but anonymity cannot be guaranteed.
We acknowledge Dr. Raghavendra Rao (Department of Dermatology, Kasturba Medical College, Manipal) for antigen mapping analysis.
Financial support and sponsorship
Conflicts of interest
There are no conflicts of interest.
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[Figure 1], [Figure 2], [Figure 3], [Figure 4], [Figure 5]