Shown is a thoracic nevus anemicus manifesting as a pale sharply bordered macule.
Sachs C, Lipsker D. Nevus Anemicus and Bier Spots in Tuberous Sclerosis Complex. JAMA Dermatol. 2016;152(2):217-218. doi:10.1001/jamadermatol.2015.3999
Vascular lesions, such as nevus anemicus and Bier spots, are benign functional abnormalities.1- 3 Four patients described herein with tuberous sclerosis complex (TSC) had nevus anemicus or Bier spots.
A retrospective descriptive analysis was performed of skin signs in 29 sequential patients with TSC who were examined by the same dermatologist (D.L.) over 10 years. All patients had a definite diagnosis of TSC according to criteria from the 2012 International Tuberous Sclerosis Complex Consensus Statements.4 A detailed and complete dermatological examination was performed at least once in all patients. This type of study that does not involve invasive investigation but relies on a clinical examination performed during a regular consultation does not need the approval of an institutional review board under French law.
Classic dermatological findings of TSC were observed in 29 patients (Table). The following 4 patients had nevus anemicus of Bier spots.
A woman in her 30s with renal cysts had angiofibromas, shagreen patches, and ungual fibromas. In addition, she manifested 2 subependymal nodules, cortical dysplasia, and renal angiomyolipomas, and she was found to have a TSC1 (OMIM 605284) mutation. Dermatological examination also revealed a nevus anemicus on the thorax.
As a young girl, this patient was thought to have TSC because she had epilepsy, cortical dysplasia, and hypomelanic macules. She was first examined in the Clinique Dermatologique, Hôpitaux Universitaires de Strasbourg, when she was in her early 20s. Angiofibromas, 2 ungual fibromas, hypomelanic macules, 2 shagreen patches, and dental enamel pits were noted, as was a left thoracic nevus anemicus (Figure). She also had subependymal nodules, renal cysts, and renal angiomyolipomas.
A 5-month-old boy with a history of cardiac rhabdomyolipomas found on antenatal ultrasonography and West syndrome had multiple retinal hamartomas, cortical dysplasia, a subependymal giant cell astrocytoma, and renal angiomyolipomas. He was found to have a TSC2 (OMIM 191092) mutation. On dermatological examination, he had angiofibromas, 2 ungual fibromas, 2 shagreen patches, multiple hypomelanic macules of the limbs and trunk, and dental enamel pits. Bier spots were noted on the upper limbs.
A young patient having TSC with angiofibromas and epilepsy had cortical dysplasia and renal angiomyolipomas. On dermatological examination at age 18 years, he manifested angiofibromas, dental enamel pits, and hypomelanic macules, as well as pale macules of the limbs, especially on the forearms, which were noted to be Bier spots.
In this series, 4 of 29 patients with TSC (14%) had nevus anemicus or Bier spots. Nevus anemicus has been reported in patients with type 1 neurofibromatosis,5 phakomatosis pigmentovascularis,6 and port-wine stains.7 Bier spots are a common insignificant finding. These vascular manifestations could be minor cutaneous markers of TSC, occurring in a subgroup of patients with the disease. Compared with the aesthetically disfiguring facial angiofibromas, these minor skin signs may go unnoticed and are usually of no concern to the patient. Future research is needed to determine if these signs are significant within the context of TSC.
Accepted for Publication: August 29, 2015.
Corresponding Author: Dan Lipsker, MD, PhD, Clinique Dermatologique, Hôpitaux Universitaires de Strasbourg, 1 Place de l’Hôpital, F-67091 Strasbourg CEDEX, France (firstname.lastname@example.org).
Published Online: November 18, 2015. doi:10.1001/jamadermatol.2015.3999.
Author Contributions: Both authors had full access to all the data in the study and take responsibility for the integrity of the data and the accuracy of the data analysis.
Study concept and design: Lipsker.
Acquisition, analysis, or interpretation of data: Both authors.
Drafting of the manuscript: Both authors.
Critical revision of the manuscript for important intellectual content: Lipsker.
Administrative, technical, or material support: Lipsker.
Study supervision: Lipsker.
Conflict of Interest Disclosures: None reported.