A case-control study of cutaneous signs in adult patients with Marfan disease: Diagnostic value of striae

Ledoux, M; Beauchet, Alain; Fermanian, Christophe; Boileau, Cathérine; Jondeau, Guillaume; Saïag, Philippe

doi:10.1016/j.jaad.2010.01.032

Cited by 26 publications

(20 citation statements)

References 32 publications

Supporting

Mentioning

Contrasting

Unclassified

Order By: Relevance

“…However, the presence of striae distensae has been reported repeatedly in MFS and is considered a characteristic systemic feature. 4 Additional reported findings include hernias 9 and paucity of muscle and fat tissue stores despite adequate caloric intake, as was observed in our patient. Fibrillin is the major constitutive element of extracellular microfibrils and has widespread distribution in elastic and nonelastic connective tissue throughout the body.…”

Section: Discussionsupporting

confidence: 76%

“…2,3 The most common skin findings in MFS are striae, especially at unusual sites. 4 Histologic findings support the view that striae distensae are scars. …”

supporting

confidence: 55%

“…The most common skin manifestation of MFS and the MASS phenotype are striae. 4,6 Striae distensae consist of bands of thin, wrinkled skin that are red, then purple, and finally white. The histopathological features of striae associated with MFS and other conditions are similar: the epidermis is thin and flattened, and the upper dermis is decreased in thickness and characterized by straight thin collagen bundles arranged parallel to the skin along with elastic fibers that are arranged similarly.…”

Section: Discussionmentioning

confidence: 99%

See 2 more Smart Citations

Atrophic Skin Patches With Abnormal Elastic Fibers as a Presenting Sign of the MASS Phenotype Associated With Mutation in the Fibrillin 1 Gene

et al. 2014

View full text Add to dashboard Cite

Although the clinical suspicion and diagnosis of MFS and related disorders are usually established by its main associated clinical features, including ophthalmologic, skeletal, and vascular involvement, clinicians should be aware of the associated skin manifestations, including unusual atrophic patches with abnormal elastic fibers that can sometimes be the first noted sign of the genetic disorder.

show abstract

Section: Discussionsupporting

confidence: 76%

“…2,3 The most common skin findings in MFS are striae, especially at unusual sites. 4 Histologic findings support the view that striae distensae are scars. …”

supporting

confidence: 55%

Section: Discussionmentioning

confidence: 99%

See 1 more Smart Citation

Atrophic Skin Patches With Abnormal Elastic Fibers as a Presenting Sign of the MASS Phenotype Associated With Mutation in the Fibrillin 1 Gene

et al. 2014

View full text Add to dashboard Cite

show abstract

“…The key skin features noted in Marfan syndrome are striae and atrophic scars. As outlined above systematic documentation of skin and cutaneous manifestations by Grahame and Pyeritz [294] and Ledoux et al [295] provide data on the prevalence of cutaneous manifestations in contrast to single case reports. Although association with other dermal features has been noted, further systematic reviews are needed to study the prevalence of these features in Marfan syndrome versus controls.…”

Section: Resultsmentioning

confidence: 99%

“…Another key paper that documents skin features is the study undertaken by Ledoux et al [295], which is a systematic review of skin and cutaneous features in 61 consecutive patients with age, sex and height matched controls. Sixty-six percent of individuals with Marfan syndrome had striae when compared to 16% of controls.…”

Section: Dermatological Features By Leema Robertmentioning

confidence: 99%

Features of Marfan syndrome not listed in the Ghent nosology – the dark side of the disease

Kodolitsch

Demolder

Girdauskas

et al. 2019

Expert Review of Cardiovascular Therapy

View full text Add to dashboard Cite

Introduction: The revised Ghent nosology presents the classical features of Marfan syndrome. However, behind its familiar face, Marfan syndrome hides less well-known features. Areas covered: The German Marfan Organization listed unusual symptoms and clinical experts reviewed the literature on clinical features of Marfan syndrome not listed in the Ghent nosology. Thereby we identified the following features: (1) bicuspid aortic valve, mitral valve prolapse, pulmonary valve prolapse, tricuspid valve prolapse, (2) heart failure and cardiomyopathy, (3) supraventricular arrhythmia, ventricular arrhythmia, and abnormal repolarization, (4) spontaneous coronary artery dissection, anomalous coronary arteries, and atherosclerotic coronary artery disease, tortuosity-, aneurysm-, and dissection of large and medium-sized arteries, (5) restrictive lung disease, parenchymal lung disease, and airway disorders, (6) obstructive-and central sleep apnea, (7) liver and kidney cysts, biliary tract disease, diaphragmatic hernia, and adiposity, (8) premature labor, and urinary incontinence, (9) myopathy, reduced bone mineral density, and craniofacial manifestations, (10) atrophic scars, (11) caries, and craniomandibular dysfunction, (12) headache from migraine and spontaneous cerebrospinal fluid leakage, (13) cognitive dysfunction, schizophrenia, depression, fatigue, and pain, (14) and activated fibrinolysis, thrombin, platelets, acquired von Willebrand disease, and platelet dysfunction. Expert commentary: Future research, nosologies, and guidelines may consider less well-known features of Marfan syndrome. ARTICLE HISTORY

show abstract

Buschke–Ollendorff Syndrome, Marfan Syndrome and Osteogenesis Imperfecta

Lacour¹

2019

Harper's Textbook of Pediatric Dermatology

View full text Add to dashboard Cite

A case-control study of cutaneous signs in adult patients with Marfan disease: Diagnostic value of striae

Cited by 26 publications

References 32 publications

Atrophic Skin Patches With Abnormal Elastic Fibers as a Presenting Sign of the MASS Phenotype Associated With Mutation in the Fibrillin 1 Gene

Atrophic Skin Patches With Abnormal Elastic Fibers as a Presenting Sign of the MASS Phenotype Associated With Mutation in the Fibrillin 1 Gene

Features of Marfan syndrome not listed in the Ghent nosology – the dark side of the disease

Buschke–Ollendorff Syndrome, Marfan Syndrome and Osteogenesis Imperfecta

Contact Info

Product

Resources

About