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Cerebrovascular Disease

Cutaneous Vascular Malformations in a 53-Year-Old Woman With Neurologic Symptoms

Educational Objective
Based on this clinical scenario and the accompanying image, understand how to arrive at a correct diagnosis.

1 Credit CME

JAMA Dermatology

Published Online: September 13, 2023

JAMA Dermatology Clinicopathological Challenge

Article Information and Disclosures

Jonas Rauterberg, MD¹;

Julia Schreml, MD²;

Iliana Tantcheva-Poór, MD¹

Author Affiliations

¹Department of Dermatology and Venereology, Faculty of Medicine and University Hospital, University of Cologne, Cologne, Germany
²Institute of Human Genetics, Faculty of Medicine and University Hospital, University of Cologne, Cologne, Germany

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A female patient in her early 50s presented with multiple (approximately 10) bluish, partially keratotic papules and nodules on the lower legs (Figure, A). Since the age of 24 years, the lesions had been growing very slowly in number and size and had been bleeding occasionally after a trauma. The patient used a wheelchair due to a right-sided hemiparesis and hemianopsia caused by an intracranial hemorrhage. At the age of 4 years, recurrent seizures had led to the diagnosis of cerebral venous malformations. Clinical examination also demonstrated a lipolymphedema of the lower legs that had been attributed to a functional venous insufficiency with insufficient venous pump activity. The patient had been wearing compression stockings for years. The family history was positive for cerebral venous malformations involving the patient’s father and aunt, the father having died of an intracranial hemorrhage in his early 70s.

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A female patient in her early 50s presented with multiple (approximately 10) bluish, partially keratotic papules and nodules on the lower legs (Figure, A). Since the age of 24 years, the lesions had been growing very slowly in number and size and had been bleeding occasionally after a trauma. The patient used a wheelchair due to a right-sided hemiparesis and hemianopsia caused by an intracranial hemorrhage. At the age of 4 years, recurrent seizures had led to the diagnosis of cerebral venous malformations. Clinical examination also demonstrated a lipolymphedema of the lower legs that had been attributed to a functional venous insufficiency with insufficient venous pump activity. The patient had been wearing compression stockings for years. The family history was positive for cerebral venous malformations involving the patient’s father and aunt, the father having died of an intracranial hemorrhage in his early 70s.

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Article Information

Corresponding Author: Jonas Rauterberg, MD, Department of Dermatology and Venereology, Faculty of Medicine and University Hospital Cologne, Kerpenerstr. 62, 50937 Cologne, Germany (jonas.rauterberg@uk-koeln.de).

Published Online: September 13, 2023. doi:10.1001/jamadermatol.2023.3216

Conflict of Interest Disclosures: None reported.

Additional Contributions: We thank the patient for granting permission to publish this information.

References

ISSVA classification of vascular anomalies. International Society for the Study of Vascular Anomalies. Accessed May 15, 2023. https://www.issva.org/classification

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Soblet J , Kangas J , Nätynki M , et al. Blue rubber bleb nevus (BRBN) syndrome is caused by somatic TEK (TIE2) mutations. J Invest Dermatol. 2017;137(1):207-216. doi:10.1016/j.jid.2016.07.034 PubMed Google Scholar Crossref

Couto JA , Vivero MP , Kozakewich HP , et al. A somatic MAP3K3 mutation is associated with verrucous venous malformation. Am J Hum Genet. 2015;96(3):480-486. doi:10.1016/j.ajhg.2015.01.007 PubMed Google Scholar Crossref

AMA CME Accreditation Information

Credit Designation Statement: The American Medical Association designates this Journal-based CME activity activity for a maximum of 1.00  AMA PRA Category 1 Credit(s)™. Physicians should claim only the credit commensurate with the extent of their participation in the activity.

Successful completion of this CME activity, which includes participation in the evaluation component, enables the participant to earn up to:

1.00 Medical Knowledge MOC points in the American Board of Internal Medicine's (ABIM) Maintenance of Certification (MOC) program;;
1.00 Self-Assessment points in the American Board of Otolaryngology – Head and Neck Surgery’s (ABOHNS) Continuing Certification program;
1.00 MOC points in the American Board of Pediatrics’ (ABP) Maintenance of Certification (MOC) program;
1.00 Lifelong Learning points in the American Board of Pathology’s (ABPath) Continuing Certification program; and
1.00 credit toward the CME [and Self-Assessment requirements] of the American Board of Surgery’s Continuous Certification program

It is the CME activity provider's responsibility to submit participant completion information to ACCME for the purpose of granting MOC credit.