Battling a rarity: A case of kindler syndrome from a developing country
Kindler syndrome, a rare branching of inherited epidermolysis bullosa, is an autosomal recessive condition characterized by the eruption of painful blisters and hemorrhagic vesicles in infancy. With age, the eruption of blisters are seen to decline leaving behind fibrosed, scarred, and paper-like sk...
| Main Authors: | , , , |
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| Format: | Article |
| Language: | English |
| Published: |
SAGE Publishing
2024-02-01
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| Series: | SAGE Open Medical Case Reports |
| Online Access: | https://doi.org/10.1177/2050313X241231518 |
| _version_ | 1797304142601912320 |
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| author | Alina Ahmed Tasheen Zehra Alina Moin Shajie Ur Rehman Usmani |
| author_facet | Alina Ahmed Tasheen Zehra Alina Moin Shajie Ur Rehman Usmani |
| author_sort | Alina Ahmed |
| collection | DOAJ |
| description | Kindler syndrome, a rare branching of inherited epidermolysis bullosa, is an autosomal recessive condition characterized by the eruption of painful blisters and hemorrhagic vesicles in infancy. With age, the eruption of blisters are seen to decline leaving behind fibrosed, scarred, and paper-like skin, and poikilodermic features. To this date, about 400 cases have been reported worldwide for this disease only. This report aims to discuss the presence and diagnosis of Kindler Syndrome using limited resources in developing countries. It describes the presence of clinically diagnosed Kindler Syndrome in a young male of Pakistani descent that started in infancy and presented with a variety of clinical features over the years. Even though genetic analysis remains the gold standard diagnostic for Kindler syndrome, for third world countries, relying on Diagnostic clinical criteria remains helpful in establishing a diagnosis of Kindler syndrome for further management, as seen in our patient. |
| first_indexed | 2024-03-08T00:04:10Z |
| format | Article |
| id | doaj.art-76c47ca07d8540e8944007ccca117521 |
| institution | Directory Open Access Journal |
| issn | 2050-313X |
| language | English |
| last_indexed | 2024-03-08T00:04:10Z |
| publishDate | 2024-02-01 |
| publisher | SAGE Publishing |
| record_format | Article |
| series | SAGE Open Medical Case Reports |
| spelling | doaj.art-76c47ca07d8540e8944007ccca1175212024-02-17T11:03:27ZengSAGE PublishingSAGE Open Medical Case Reports2050-313X2024-02-011210.1177/2050313X241231518Battling a rarity: A case of kindler syndrome from a developing countryAlina Ahmed0Tasheen Zehra1Alina Moin2Shajie Ur Rehman Usmani3Department of Dermatology, Dr. Ruth K. M. Pfau Civil Hospital, Karachi, PakistanGeriatric Medicine, Sherwood Forest Hospitals NHS Foundation Trusts, Mansfield, UKDow University of Health Sciences, Karachi, PakistanDow University of Health Sciences, Karachi, PakistanKindler syndrome, a rare branching of inherited epidermolysis bullosa, is an autosomal recessive condition characterized by the eruption of painful blisters and hemorrhagic vesicles in infancy. With age, the eruption of blisters are seen to decline leaving behind fibrosed, scarred, and paper-like skin, and poikilodermic features. To this date, about 400 cases have been reported worldwide for this disease only. This report aims to discuss the presence and diagnosis of Kindler Syndrome using limited resources in developing countries. It describes the presence of clinically diagnosed Kindler Syndrome in a young male of Pakistani descent that started in infancy and presented with a variety of clinical features over the years. Even though genetic analysis remains the gold standard diagnostic for Kindler syndrome, for third world countries, relying on Diagnostic clinical criteria remains helpful in establishing a diagnosis of Kindler syndrome for further management, as seen in our patient.https://doi.org/10.1177/2050313X241231518 |
| spellingShingle | Alina Ahmed Tasheen Zehra Alina Moin Shajie Ur Rehman Usmani Battling a rarity: A case of kindler syndrome from a developing country SAGE Open Medical Case Reports |
| title | Battling a rarity: A case of kindler syndrome from a developing country |
| title_full | Battling a rarity: A case of kindler syndrome from a developing country |
| title_fullStr | Battling a rarity: A case of kindler syndrome from a developing country |
| title_full_unstemmed | Battling a rarity: A case of kindler syndrome from a developing country |
| title_short | Battling a rarity: A case of kindler syndrome from a developing country |
| title_sort | battling a rarity a case of kindler syndrome from a developing country |
| url | https://doi.org/10.1177/2050313X241231518 |
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