Dermatosparaxis type of Ehlers-Danlos syndrome: case report
Background. The dermatosparaxial type of Ehlers-Danlos syndrome (EDSDERMS, VIIC, dEDS) is an extremely rare disorder. To date, 15 patients with this type of Ehlers-Danlos syndrome are known worldwide. The purpose was to improve knowledge and spread data about the orphan connective tissue disease —...
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| Format: | Article |
| Language: | English |
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Zaslavsky O.Yu.
2023-09-01
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| Series: | Bolʹ, Sustavy, Pozvonočnik |
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| Online Access: | https://pjs.zaslavsky.com.ua/index.php/journal/article/view/385 |
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| author | N.I. Balatska O.A. Stroi I.V. Grynevych P.V. Husynin O.P. Medvedieva K.Yu. Kyrylchuk |
| author_facet | N.I. Balatska O.A. Stroi I.V. Grynevych P.V. Husynin O.P. Medvedieva K.Yu. Kyrylchuk |
| author_sort | N.I. Balatska |
| collection | DOAJ |
| description | Background. The dermatosparaxial type of Ehlers-Danlos syndrome (EDSDERMS, VIIC, dEDS) is an extremely rare disorder. To date, 15 patients with this type of Ehlers-Danlos syndrome are known worldwide. The purpose was to improve knowledge and spread data about the orphan connective tissue disease — dEDS — on the example of a patient from a family in which the father and two sons have the same type of lesions. Materials and methods. We report a 6-year-old patient as well as his father and sibling with clinical symptoms of the dEDS, which we diagnosed based on the main diagnostic criteria: extreme skin fragility, craniofacial features, superficial skin trauma, wrinkling of the palms, especially when they are exposed to water for a long time, and a tendency to ecchymosis with a risk of subcutaneous hematomas and bleeding. Secondary diagnostic criteria were represented by atrophic scars, refractive errors (myopia), gingival marginal dysplasia, hypermobility of the finger and knee joints. The informed consent of the patient’s parents was obtained for the examination and publication of information, and the parents agreed to the publication of clinical photographs. Results. After laboratory and instrumental studies and consultations with related specialists (hematologist, geneticist, cardiologist, pediatrician, orthopedist, dermatologist), we excluded such diseases as Marfan syndrome, MASS-phenotype, congenital coagulopathies and thrombocytopathies, hemophilia, isolated vascular pathologies, as well as other types of Ehlers-Danlos syndrome and identified dEDS in the patient only clinically. Genetic testing did not reveal any pathological mutations or exonic deletions/duplications. The negative result of genetic testing in dEDS is due to the fact that certain types of mutations (e.g., deep intronic mutations) cannot always be detected by standard diagnostic genetic methods. Conclusions. It is possible to establish a diagnosis based on clinical symptoms, but an extended mutation search is mandatory for the entire family. |
| first_indexed | 2024-03-08T09:37:49Z |
| format | Article |
| id | doaj.art-69817b9abb8b4b4ebe773f5847c4028f |
| institution | Directory Open Access Journal |
| issn | 2224-1507 2307-1133 |
| language | English |
| last_indexed | 2024-03-08T09:37:49Z |
| publishDate | 2023-09-01 |
| publisher | Zaslavsky O.Yu. |
| record_format | Article |
| series | Bolʹ, Sustavy, Pozvonočnik |
| spelling | doaj.art-69817b9abb8b4b4ebe773f5847c4028f2024-01-30T07:10:46ZengZaslavsky O.Yu.Bolʹ, Sustavy, Pozvonočnik2224-15072307-11332023-09-0113319520010.22141/pjs.13.3.2023.385385Dermatosparaxis type of Ehlers-Danlos syndrome: case reportN.I. Balatska0https://orcid.org/0000-0002-5084-1268O.A. Stroi1https://orcid.org/0000-0002-6987-9178I.V. Grynevych2https://orcid.org/0000-0002-6535-7356P.V. Husynin3O.P. Medvedieva4K.Yu. Kyrylchuk5Bogomolets National Medical University, Kyiv, UkraineBogomolets National Medical University, Kyiv, UkraineKyiv Medical University, Kyiv, UkraineAmosov National Institute of Cardio-Vascular Surgery National Academy of Medical Sciences of Ukraine, Kyiv, UkraineConsultative and Diagnostic Clinic of National Specialized Children’s Hospital “Ohmatdyt” Health Ministry of Ukraine, Kyiv, UkraineConsultative and Diagnostic Clinic of National Specialized Children’s Hospital “Ohmatdyt” Health Ministry of Ukraine, Kyiv, UkraineBackground. The dermatosparaxial type of Ehlers-Danlos syndrome (EDSDERMS, VIIC, dEDS) is an extremely rare disorder. To date, 15 patients with this type of Ehlers-Danlos syndrome are known worldwide. The purpose was to improve knowledge and spread data about the orphan connective tissue disease — dEDS — on the example of a patient from a family in which the father and two sons have the same type of lesions. Materials and methods. We report a 6-year-old patient as well as his father and sibling with clinical symptoms of the dEDS, which we diagnosed based on the main diagnostic criteria: extreme skin fragility, craniofacial features, superficial skin trauma, wrinkling of the palms, especially when they are exposed to water for a long time, and a tendency to ecchymosis with a risk of subcutaneous hematomas and bleeding. Secondary diagnostic criteria were represented by atrophic scars, refractive errors (myopia), gingival marginal dysplasia, hypermobility of the finger and knee joints. The informed consent of the patient’s parents was obtained for the examination and publication of information, and the parents agreed to the publication of clinical photographs. Results. After laboratory and instrumental studies and consultations with related specialists (hematologist, geneticist, cardiologist, pediatrician, orthopedist, dermatologist), we excluded such diseases as Marfan syndrome, MASS-phenotype, congenital coagulopathies and thrombocytopathies, hemophilia, isolated vascular pathologies, as well as other types of Ehlers-Danlos syndrome and identified dEDS in the patient only clinically. Genetic testing did not reveal any pathological mutations or exonic deletions/duplications. The negative result of genetic testing in dEDS is due to the fact that certain types of mutations (e.g., deep intronic mutations) cannot always be detected by standard diagnostic genetic methods. Conclusions. It is possible to establish a diagnosis based on clinical symptoms, but an extended mutation search is mandatory for the entire family.https://pjs.zaslavsky.com.ua/index.php/journal/article/view/385orphan diseaseehlers-danlos syndromedermatosparaxis typehemorrhagic syndromecase report |
| spellingShingle | N.I. Balatska O.A. Stroi I.V. Grynevych P.V. Husynin O.P. Medvedieva K.Yu. Kyrylchuk Dermatosparaxis type of Ehlers-Danlos syndrome: case report Bolʹ, Sustavy, Pozvonočnik orphan disease ehlers-danlos syndrome dermatosparaxis type hemorrhagic syndrome case report |
| title | Dermatosparaxis type of Ehlers-Danlos syndrome: case report |
| title_full | Dermatosparaxis type of Ehlers-Danlos syndrome: case report |
| title_fullStr | Dermatosparaxis type of Ehlers-Danlos syndrome: case report |
| title_full_unstemmed | Dermatosparaxis type of Ehlers-Danlos syndrome: case report |
| title_short | Dermatosparaxis type of Ehlers-Danlos syndrome: case report |
| title_sort | dermatosparaxis type of ehlers danlos syndrome case report |
| topic | orphan disease ehlers-danlos syndrome dermatosparaxis type hemorrhagic syndrome case report |
| url | https://pjs.zaslavsky.com.ua/index.php/journal/article/view/385 |
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