An unusual case of dominant dystrophic epidermolysis bullosa (Cockayne-Touraine disease) associated with juvenile idiopathic arthritis
We report a rare case of co-existence of dominant dystrophic epidermolysis bullosa (EB) and juvenile idiopathic arthritis (JIA) in an 18-year-old male patient, who is born out of consanguineous marriage. He presented with blistering skin lesions all over the body since the 2nd day after his birth, a...
| Main Authors: | , , , , , , , |
|---|---|
| Format: | Article |
| Language: | English |
| Published: |
Wolters Kluwer Medknow Publications
2020-01-01
|
| Series: | Journal of Clinical and Scientific Research |
| Subjects: | |
| Online Access: | http://www.jcsr.co.in/article.asp?issn=2277-5706;year=2020;volume=9;issue=2;spage=120;epage=123;aulast=Raja |
| _version_ | 1811294480830038016 |
|---|---|
| author | V Arun Raja K M Bhargav P Sumanth Reddy T Neeharika R Suryudu Suhrith Bhattaram B Siddhartha Kumar N Rukmangadha |
| author_facet | V Arun Raja K M Bhargav P Sumanth Reddy T Neeharika R Suryudu Suhrith Bhattaram B Siddhartha Kumar N Rukmangadha |
| author_sort | V Arun Raja |
| collection | DOAJ |
| description | We report a rare case of co-existence of dominant dystrophic epidermolysis bullosa (EB) and juvenile idiopathic arthritis (JIA) in an 18-year-old male patient, who is born out of consanguineous marriage. He presented with blistering skin lesions all over the body since the 2nd day after his birth, anonychia of all the toes from childhood and symmetric polyarticular inflammatory arthritis for 4 years. Erythrocyte sedimentation rate and C-reactive protein were elevated. Skin biopsy of induced vesicle was done, and histopathology showed epidermis with basket-weave hyperkeratosis, basal pigmented layer and sub-epidermal free bulla, while dermis revealed a few thin-walled proliferating capillaries with sparse lymphocytes surrounding them. Immunofluorescence showed immunoglobulin G along the basement membrane confirming the diagnosis of EB. He was diagnosed to have polyarticular rheumatoid factor-negative JIA. Treatment with oral methylprednisolone, disease-modifying anti-rheumatic drugs and intra-articular triamcinolone injections resulted in symptomatic relief of the joint pains. |
| first_indexed | 2024-04-13T05:18:15Z |
| format | Article |
| id | doaj.art-34d1a289f500499bb88cb2a043de88e9 |
| institution | Directory Open Access Journal |
| issn | 2277-5706 2277-8357 |
| language | English |
| last_indexed | 2024-04-13T05:18:15Z |
| publishDate | 2020-01-01 |
| publisher | Wolters Kluwer Medknow Publications |
| record_format | Article |
| series | Journal of Clinical and Scientific Research |
| spelling | doaj.art-34d1a289f500499bb88cb2a043de88e92022-12-22T03:00:50ZengWolters Kluwer Medknow PublicationsJournal of Clinical and Scientific Research2277-57062277-83572020-01-019212012310.4103/JCSR.JCSR_14_20An unusual case of dominant dystrophic epidermolysis bullosa (Cockayne-Touraine disease) associated with juvenile idiopathic arthritisV Arun RajaK M BhargavP Sumanth ReddyT NeeharikaR SuryuduSuhrith BhattaramB Siddhartha KumarN RukmangadhaWe report a rare case of co-existence of dominant dystrophic epidermolysis bullosa (EB) and juvenile idiopathic arthritis (JIA) in an 18-year-old male patient, who is born out of consanguineous marriage. He presented with blistering skin lesions all over the body since the 2nd day after his birth, anonychia of all the toes from childhood and symmetric polyarticular inflammatory arthritis for 4 years. Erythrocyte sedimentation rate and C-reactive protein were elevated. Skin biopsy of induced vesicle was done, and histopathology showed epidermis with basket-weave hyperkeratosis, basal pigmented layer and sub-epidermal free bulla, while dermis revealed a few thin-walled proliferating capillaries with sparse lymphocytes surrounding them. Immunofluorescence showed immunoglobulin G along the basement membrane confirming the diagnosis of EB. He was diagnosed to have polyarticular rheumatoid factor-negative JIA. Treatment with oral methylprednisolone, disease-modifying anti-rheumatic drugs and intra-articular triamcinolone injections resulted in symptomatic relief of the joint pains.http://www.jcsr.co.in/article.asp?issn=2277-5706;year=2020;volume=9;issue=2;spage=120;epage=123;aulast=Rajaepidermolysis bullosadominant dystrophicjuvenile idiopathic arthritis |
| spellingShingle | V Arun Raja K M Bhargav P Sumanth Reddy T Neeharika R Suryudu Suhrith Bhattaram B Siddhartha Kumar N Rukmangadha An unusual case of dominant dystrophic epidermolysis bullosa (Cockayne-Touraine disease) associated with juvenile idiopathic arthritis Journal of Clinical and Scientific Research epidermolysis bullosa dominant dystrophic juvenile idiopathic arthritis |
| title | An unusual case of dominant dystrophic epidermolysis bullosa (Cockayne-Touraine disease) associated with juvenile idiopathic arthritis |
| title_full | An unusual case of dominant dystrophic epidermolysis bullosa (Cockayne-Touraine disease) associated with juvenile idiopathic arthritis |
| title_fullStr | An unusual case of dominant dystrophic epidermolysis bullosa (Cockayne-Touraine disease) associated with juvenile idiopathic arthritis |
| title_full_unstemmed | An unusual case of dominant dystrophic epidermolysis bullosa (Cockayne-Touraine disease) associated with juvenile idiopathic arthritis |
| title_short | An unusual case of dominant dystrophic epidermolysis bullosa (Cockayne-Touraine disease) associated with juvenile idiopathic arthritis |
| title_sort | unusual case of dominant dystrophic epidermolysis bullosa cockayne touraine disease associated with juvenile idiopathic arthritis |
| topic | epidermolysis bullosa dominant dystrophic juvenile idiopathic arthritis |
| url | http://www.jcsr.co.in/article.asp?issn=2277-5706;year=2020;volume=9;issue=2;spage=120;epage=123;aulast=Raja |
| work_keys_str_mv | AT varunraja anunusualcaseofdominantdystrophicepidermolysisbullosacockaynetourainediseaseassociatedwithjuvenileidiopathicarthritis AT kmbhargav anunusualcaseofdominantdystrophicepidermolysisbullosacockaynetourainediseaseassociatedwithjuvenileidiopathicarthritis AT psumanthreddy anunusualcaseofdominantdystrophicepidermolysisbullosacockaynetourainediseaseassociatedwithjuvenileidiopathicarthritis AT tneeharika anunusualcaseofdominantdystrophicepidermolysisbullosacockaynetourainediseaseassociatedwithjuvenileidiopathicarthritis AT rsuryudu anunusualcaseofdominantdystrophicepidermolysisbullosacockaynetourainediseaseassociatedwithjuvenileidiopathicarthritis AT suhrithbhattaram anunusualcaseofdominantdystrophicepidermolysisbullosacockaynetourainediseaseassociatedwithjuvenileidiopathicarthritis AT bsiddharthakumar anunusualcaseofdominantdystrophicepidermolysisbullosacockaynetourainediseaseassociatedwithjuvenileidiopathicarthritis AT nrukmangadha anunusualcaseofdominantdystrophicepidermolysisbullosacockaynetourainediseaseassociatedwithjuvenileidiopathicarthritis AT varunraja unusualcaseofdominantdystrophicepidermolysisbullosacockaynetourainediseaseassociatedwithjuvenileidiopathicarthritis AT kmbhargav unusualcaseofdominantdystrophicepidermolysisbullosacockaynetourainediseaseassociatedwithjuvenileidiopathicarthritis AT psumanthreddy unusualcaseofdominantdystrophicepidermolysisbullosacockaynetourainediseaseassociatedwithjuvenileidiopathicarthritis AT tneeharika unusualcaseofdominantdystrophicepidermolysisbullosacockaynetourainediseaseassociatedwithjuvenileidiopathicarthritis AT rsuryudu unusualcaseofdominantdystrophicepidermolysisbullosacockaynetourainediseaseassociatedwithjuvenileidiopathicarthritis AT suhrithbhattaram unusualcaseofdominantdystrophicepidermolysisbullosacockaynetourainediseaseassociatedwithjuvenileidiopathicarthritis AT bsiddharthakumar unusualcaseofdominantdystrophicepidermolysisbullosacockaynetourainediseaseassociatedwithjuvenileidiopathicarthritis AT nrukmangadha unusualcaseofdominantdystrophicepidermolysisbullosacockaynetourainediseaseassociatedwithjuvenileidiopathicarthritis |