Call for Referral

CALL FOR REFERRAL

In previous and ongoing genetic investigations within the clinical genetics departments of the Amsterdam Medical Center (AMC) and the VU University Medical Center in Amsterdam, multiple members from a single family were identified having a rare X-linked disease: hereditary bullous dystrophy of the maculate type, described originally by Mendes da Costa.

Mendes da Costa syndrome is a rare X-linked recessive disease, which has been described until now in only one Dutch family and one Italian family. The first patients were documented in 1908. Since that time, a number of family members have undergone screening and/or treatment in both the AMC and VUMC. A possibility remains however that other family members have been examined elsewhere. Ongoing research conducted in cooperation between both medical centers intends to gain insight into the causative genetic defect of the disease. To accommodate these efforts the researchers are searching for more patients from the known or additional families. The patients might not have been recognized as having this particular syndrome, due to overlap of symptoms with other syndromes.

This disease affects men, while women can only be carriers. The following clinical symptoms characterize this syndrome:

- Appearance of bullae on the skin in the first months after birth until the 3rd year, followed by pigmentary changes leading to spotted skin (a form of poikiloderma)

- Hair loss, including the eyebrows and eyelashes from birth until the age of 3 months

- Delay in growth and psychomotor development

- Microcephaly

- A supravalvar aortic or pulmonary stenosis, maybe with left/right ventricular hypertrophy; possibly cerebral aneurysms

- Acrocyanosis and/or short conical-shaped fingers

- Delayed teeth development

- Small testes

1 Most documented patients have died before the age of 30. The cause of death in early generations was primarily infection-related (tuberculosis, pneumonia). In later generations, the cause of death was more often due to carcinomas (head-neck tumors, lymphoproliferative disorders) or vascular problems (cerebral aneurysms). The oldest living patient is currently in his early 40’s.

Although previous research efforts have led to progress at a genetic level, mapping the causative gene on the X chromosome, the relevant gene has not yet been identified. The objective of this call is to gather more patient data, increase insight into the origin of this disease which may lead to the development of preventive or therapeutic options in the future.

We ask doctors to put us in contact with or inform us about potential patients and their family members. In view of the clinical symptoms, we expect that patients may be known by pediatricians, dermatologists, cardiologists, and/or oncologists. Additionally, we are interested in receiving information, following appropriate family consent, regarding any deceased patients.

Contact information:

Mrs. Dr. D.Q.C.M. Barge-Schaapveld, Department of Clinical Genetics, AMC: D.Q.Barge- [email protected]

Dr. F.H. Menko, Department of Clinical Genetics, VUMC: [email protected]

Figures originate from an article by M.J. Woerdeman, Acta dermat.-venereol., Proc. 11th Internat. Congr. Dermat. 1957, vol III, p.678-686.