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
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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.BargeSchaapveld@amc.uva.nl
Dr. F.H. Menko, Department of Clinical Genetics, VUMC: FH.Menko@vumc.nl
Figures originate from an article by M.J. Woerdeman, Acta dermat.-venereol., Proc. 11th
Internat. Congr. Dermat. 1957, vol III, p.678-686.
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