Dermatologic manifestations and diagnostic assessments of the Ehlers-Danlos syndromes: A clinical review.
J Am Acad Dermatol
; 89(3): 551-559, 2023 09.
Article
en En
| MEDLINE
| ID: mdl-36764582
ABSTRACT
BACKGROUND:
The Ehlers-Danlos syndromes (EDSs) comprise a group of connective tissue disorders that manifest with skin hyperextensibility, easy bruising, joint hypermobility and fragility of skin, soft tissues, and some organs. A correct assessment of cutaneous features along with the use of adjunct technologies can improve diagnostic accuracy.OBJECTIVES:
To systematically review the cutaneous features and adjunct investigations of EDS.METHODS:
A search of PubMed and Web of Science for EDS-related cutaneous features and additional investigations was undertaken from publication of the 2017 International Classification of EDS until January 15, 2022.RESULTS:
One-hundred-and-forty studies involved 839 patients with EDS. The EDS female-to-male ratio was 1.361 (P < .001). A high prevalence of skin hyperextensibility, bruising, and soft skin were noted. Most patients with vascular Ehlers-Danlos syndrome showed venous visibility, skin fragility, and acrogeria. Classical EDS showed subcutaneous spheroids and molluscoid pseudotumours. In patients that underwent skin biopsies, only 30.3% and 71.4% showed features suggestive of EDS using light microscopy and transmission electron microscopy, respectively.LIMITATIONS:
Retrospective study and small cases numbers for some EDS-subtypes.CONCLUSIONS:
An accurate clinical diagnosis increases the chances of a molecular diagnosis, particularly for rarer EDS subtypes, whilst decreasing the need for genetic testing where there is a low clinical suspicion for a monogenic EDS-subtype.Palabras clave
Texto completo:
1
Colección:
01-internacional
Banco de datos:
MEDLINE
Asunto principal:
Enfermedades del Tejido Conjuntivo
/
Síndrome de Ehlers-Danlos
Tipo de estudio:
Diagnostic_studies
/
Observational_studies
/
Risk_factors_studies
Límite:
Female
/
Humans
/
Male
Idioma:
En
Revista:
J Am Acad Dermatol
Año:
2023
Tipo del documento:
Article