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A rare form of PTEN-MATCHS (phosphatase and tensin
homologue-macrocephaly, autosomal dominant, thyroid disease, cancer,
hamartomata, skin abnormalities) Syndrome. Close to Bannayan-Zonana Syndrome
and characterized by macrocephaly, pseudopapilledema, hemangiomata, and
multiple lipomas. Subcutaneous hemangioma may be present at birth or appear
later in childhood. Multiple signs can be associated (head, chest,
abdominal, and genital).
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Macrocephaly Multiple Lipomas and Hemangiomata Syndrome;
Macrocephaly, Pseudopapilledema and Multiple Hemangiomata Syndrome; Rovsing
Syndrome.
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First described in 1986 as a different disease. It has
been proposed recently that three medical conditions, i.e., the Bannayan-Zonana Syndrome,
the Riley-Smith Syndrome, and the Ruvalbaca-Myhre-Smith Syndrome are similar
entities and should be most appropriately represented as the Bannayan-Riley-Ruvalbaca
Syndrome.
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Not known. Male predominance. However, females can be
affected, although in a milder form which explains why it remains mostly
undiagnosed.
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Results from mutations in the phosphatase and
tensin homologue (PTEN) gene. Gene map location is 10q23.3. The homologies
displayed by the structure of PTEN suggested to the investigators that it
may suppress tumor cell growth by antagonizing protein tyrosine kinases and
that it may regulate tumor cell invasion and metastasis through interactions
at focal adhesions.
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Clinical. It is based on the association of macrocephaly,
multiple lipomas, intestinal hamartomatous polyps, vascular malformations,
and abnormal pigmentation of the penis. The definite diagnosis is determined
genetically.
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Multiple signs can be observed with relative
frequencies: head anomalies (macrocephaly, scaphocephaly, down-slanting palpebral
fissures, strabismus, amblyopia, prominent Schwalbe lines, hypertelorism,
exotropia, pseudopapilledema tongue, polyps, high-arched palate), chest anomalies (pectus
excavatum, supernumerary nipples), genital anomalies (enlarged penis, enlarged testis),
abdominal anomalies (ileal hamartomatous polyps, colonic hamartomatous polyps,
intussusceptions, rectal bleeding), neurological anomalies (hypotonia, seizures,
thick corpus callosum, intracranial hemangioma), orthopedic anomalies (scoliosis,
joint hyperextensibility, macrodactyly), and dermatological lesions (tan macules on
the glans and the shaft of the penis, acanthosis nigricans, angiokeratoma,
café-au-lait spots, lipomas, hemangiomas, cutis marmorata). The lipomas spontaneously
regress with age. Motor and speech development are delayed, mild mental retardation, and
incoordination are lifelong features. A myopathy caused by abnormal lipid storage can
occur with proved muscle carnitine deficiency. Patients may have an increased risk of
intracranial tumors. An increased incidence of Hashimoto thyroiditis has been suggested.
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The presence of brain edema and raised
intracranial pressure must be assumed until proven otherwise. Proper evaluation of the
neurological functions, including CT scan must be obtained before anesthesia. It is
essential to check the hemoglobin level and coagulation profile because of the risk of
bleeding from the hemangioma. The association with arteriovenous malformations may impact
the heart and lead to high output cardiac failure, even in the small infant, it is
imperative to assess carefully the cardiac function and obtain an ECG and echocardiogram
before induction of anesthesia. The severity of the muscle involvement (myopathy) must be
evaluated as well as the respiratory function. Because the thyroid gland can be involved
in this process, thyroid hormone level ...