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Neurological manifestations of Ehlers-Danlos syndrome(s): A review.

Castori M, Voermans NC - Iran J Neurol (2014)

Bottom Line: The emerging picture defines a wide spectrum of neurological manifestations that are unexpectedly common and potentially disabling.Their evaluation and correct interpretation by the clinical neurologist is crucial for avoiding superfluous investigations, wrong therapies, and inappropriate referral.A set of basic tools for patient's recognition is offered for raising awareness among neurologists on this underdiagnosed group of hereditary disorders.

View Article: PubMed Central - PubMed

Affiliation: Department of Medical Genetics, San Camillo-Forlanini Hospital, Sapienza University of Rome and San Camillo - Forlanin, Rome, Italy.

ABSTRACT
The term "Ehlers-Danlos syndrome" (EDS) groups together an increasing number of heritable connective tissue disorders mainly featuring joint hypermobility and related complications, dermal dysplasia with abnormal skin texture and repair, and variable range of the hollow organ and vascular dysfunctions. Although the nervous system is not considered a primary target of the underlying molecular defect, recently, increasing attention has been posed on neurological manifestations of EDSs, such as musculoskeletal pain, fatigue, headache, muscle weakness and paresthesias. Here, a comprehensive overview of neurological findings of these conditions is presented primarily intended for the clinical neurologist. Features are organized under various subheadings, including pain, fatigue, headache, stroke and cerebrovascular disease, brain and spine structural anomalies, epilepsy, muscular findings, neuropathy and developmental features. The emerging picture defines a wide spectrum of neurological manifestations that are unexpectedly common and potentially disabling. Their evaluation and correct interpretation by the clinical neurologist is crucial for avoiding superfluous investigations, wrong therapies, and inappropriate referral. A set of basic tools for patient's recognition is offered for raising awareness among neurologists on this underdiagnosed group of hereditary disorders.

No MeSH data available.


Related in: MedlinePlus

Examples of cutaneous and articular manifestations of Ehlers-Danlos syndrome (EDS). Papyraceous scars at knees in a adult man (A) and woman (B) with classic EDS. Various degrees of skin hyperextensibility (C, D). Extensive easy bruising due to capillary fragility in a adult (E) and child (F). Joint hypermobility at fingers (G). Genu recurvatum (H)
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Figure 1: Examples of cutaneous and articular manifestations of Ehlers-Danlos syndrome (EDS). Papyraceous scars at knees in a adult man (A) and woman (B) with classic EDS. Various degrees of skin hyperextensibility (C, D). Extensive easy bruising due to capillary fragility in a adult (E) and child (F). Joint hypermobility at fingers (G). Genu recurvatum (H)

Mentions: Since the first description in the medical literature,1,2 the definition of Ehlers-Danlos syndrome (EDS) is significantly changed and actually refers to an expanding spectrum of heritable connective tissue disorders sharing the variable triad of (i) generalized joint hypermobility and related osteoarticular complications, (ii) dermal dysplasia extending from minor changes of skin texture to clinically relevant skin fragility and defective scarring, and (iii) vascular and internal organ fragility with proneness to traumatic injuries and spontaneous ruptures, dissections and prolapses (Figure 1). Nosology of EDS mirrors its heterogeneous clinical manifestations and, at present, comprises six major forms or variants (i.e., classic, hypermobility, vascular, kyphoscoliotic, arthrochalasis and dermatosparaxis types)3 (Table 1), as well as a growing list of apparently rarer subtypes (Table 2). At present, the clinical suspect of many EDS variants, can be confirmed by specific laboratory investigations, particularly molecular testing.4 Nevertheless, the EDS hypermobility type (EDS-HT), which is one of the most common variants, is still a clinical diagnosis based on subtle and likely unspecific features, and shows a nearly complete phenotypic overlap with the joint hypermobility syndrome (JHS) (Table 3), a heritable rheumatologic condition defined by the Brighton criteria.5-7 The question whether EDS-HT and JHS are also identical at the molecular level is still a matter of debate.8


Neurological manifestations of Ehlers-Danlos syndrome(s): A review.

Castori M, Voermans NC - Iran J Neurol (2014)

Examples of cutaneous and articular manifestations of Ehlers-Danlos syndrome (EDS). Papyraceous scars at knees in a adult man (A) and woman (B) with classic EDS. Various degrees of skin hyperextensibility (C, D). Extensive easy bruising due to capillary fragility in a adult (E) and child (F). Joint hypermobility at fingers (G). Genu recurvatum (H)
© Copyright Policy
Related In: Results  -  Collection

License
Show All Figures
getmorefigures.php?uid=PMC4300794&req=5

Figure 1: Examples of cutaneous and articular manifestations of Ehlers-Danlos syndrome (EDS). Papyraceous scars at knees in a adult man (A) and woman (B) with classic EDS. Various degrees of skin hyperextensibility (C, D). Extensive easy bruising due to capillary fragility in a adult (E) and child (F). Joint hypermobility at fingers (G). Genu recurvatum (H)
Mentions: Since the first description in the medical literature,1,2 the definition of Ehlers-Danlos syndrome (EDS) is significantly changed and actually refers to an expanding spectrum of heritable connective tissue disorders sharing the variable triad of (i) generalized joint hypermobility and related osteoarticular complications, (ii) dermal dysplasia extending from minor changes of skin texture to clinically relevant skin fragility and defective scarring, and (iii) vascular and internal organ fragility with proneness to traumatic injuries and spontaneous ruptures, dissections and prolapses (Figure 1). Nosology of EDS mirrors its heterogeneous clinical manifestations and, at present, comprises six major forms or variants (i.e., classic, hypermobility, vascular, kyphoscoliotic, arthrochalasis and dermatosparaxis types)3 (Table 1), as well as a growing list of apparently rarer subtypes (Table 2). At present, the clinical suspect of many EDS variants, can be confirmed by specific laboratory investigations, particularly molecular testing.4 Nevertheless, the EDS hypermobility type (EDS-HT), which is one of the most common variants, is still a clinical diagnosis based on subtle and likely unspecific features, and shows a nearly complete phenotypic overlap with the joint hypermobility syndrome (JHS) (Table 3), a heritable rheumatologic condition defined by the Brighton criteria.5-7 The question whether EDS-HT and JHS are also identical at the molecular level is still a matter of debate.8

Bottom Line: The emerging picture defines a wide spectrum of neurological manifestations that are unexpectedly common and potentially disabling.Their evaluation and correct interpretation by the clinical neurologist is crucial for avoiding superfluous investigations, wrong therapies, and inappropriate referral.A set of basic tools for patient's recognition is offered for raising awareness among neurologists on this underdiagnosed group of hereditary disorders.

View Article: PubMed Central - PubMed

Affiliation: Department of Medical Genetics, San Camillo-Forlanini Hospital, Sapienza University of Rome and San Camillo - Forlanin, Rome, Italy.

ABSTRACT
The term "Ehlers-Danlos syndrome" (EDS) groups together an increasing number of heritable connective tissue disorders mainly featuring joint hypermobility and related complications, dermal dysplasia with abnormal skin texture and repair, and variable range of the hollow organ and vascular dysfunctions. Although the nervous system is not considered a primary target of the underlying molecular defect, recently, increasing attention has been posed on neurological manifestations of EDSs, such as musculoskeletal pain, fatigue, headache, muscle weakness and paresthesias. Here, a comprehensive overview of neurological findings of these conditions is presented primarily intended for the clinical neurologist. Features are organized under various subheadings, including pain, fatigue, headache, stroke and cerebrovascular disease, brain and spine structural anomalies, epilepsy, muscular findings, neuropathy and developmental features. The emerging picture defines a wide spectrum of neurological manifestations that are unexpectedly common and potentially disabling. Their evaluation and correct interpretation by the clinical neurologist is crucial for avoiding superfluous investigations, wrong therapies, and inappropriate referral. A set of basic tools for patient's recognition is offered for raising awareness among neurologists on this underdiagnosed group of hereditary disorders.

No MeSH data available.


Related in: MedlinePlus