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Proteus
syndrome is a rare complex condition, characterized
by a variety of cutaneous and subcutaneous lesions
including vascular malformations, lipomas,
hyperpigmentation, and several types of nevi. The
major clinical features of this rare vascular
anomaly include verrucous nevus, lipomas and/or
lipomatosis, macrocephaly, asymmetric limbs with
partial gigantism of the hands and feet, and
cerebriform plantar thickening. Partial
gigantism with limb or digital overgrowth is
pathognomonic. No racial or ethnic differences in
disease occurrence appear to exist. Males and
females are equally affected. Proteus syndrome may
not be suspected in many individuals until later
infancy or early childhood, depending on the degree
of overgrowth or rate of cutaneous lesion
appearance.
Associated Conditions
(*):
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Hemihyperplasia, asymmetric overgrowth of
limbs or digits, and megalospondylodysplasia
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Scoliosis with or without unusual habitus
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Macrocephaly, macroglossia, and cranial or
auditory canal hyperostosis
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Connective tissue nevi, epidermal nevi,
lipomas, or vascular malformations
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Clinically silent but locally invasive
internal lipomas or vascular malformations
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Pulmonary cystic malformations
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DVTs, PEs, or both
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Splenomegaly or thymic enlargement
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Ovarian cystadenomas or parotid adenoma
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Strabismus
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Dental
anomalies
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Learning disabilities or mental retardation
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| Findings
(*):
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When present at birth, asymmetric limb, digital, or
cranial overgrowth may be a major diagnostic
finding.
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Digital, limb, or cranial overgrowth usually involves
both soft tissue and bone.
Cranial or external auditory canal
hyperostosis may be seen. Scoliosis associated
with disproportionate vertebral growth is
common.
q
The combination of disproportionate overgrowth and
focal atrophy can lead to a unique habitus
characterized by wasting of upper arm muscles,
an elongated thorax, an extremely gracile
neck, and muscular hypertrophy of the thighs.
q
Cystic lung malformations leading to cystic pulmonary
emphysema and restrictive lung disease
secondary to severe scoliosis are relatively
common. Recurrent pneumonias, shortness of
breath, or reduced exercise tolerance may
point to significant respiratory compromise.
Organomegaly is less common but also can occur
with splenomegaly or occasional thymus
enlargement.
q
Connective tissue nevi are virtually pathognomonic
and typically have a cerebriform contour. They
often occur on the soles of the feet but can
also be found on other areas.
Epidermal nevi tend to be the flat, soft
variety.
q
Lipomas may be well demarcated or locally invasive
with large intra-abdominal or intrathoracic
lesions presenting serious medical concerns.
q
Vascular lesions may include capillaries, lymphatics,
venules, or combinations of these. They tend
to grow gradually over time and, unlike the
more common capillary hemangiomas seen in the
general population, rarely regress. Port wine
stains or patchy hyperpigmentation also may be
seen.
q
Facial features
that often coincide with poor mental
development include a prominent occiput,
ptosis with or without down-slanting palpebrae,
upturned nose, and a long, narrow face |
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Diagnostic
Studies:
A baseline skeletal survey is
recommended.
MRI and CT may be used to evaluate
possible head and intracranial abnormalities and
also to evaluate associated vascular anomalies and
lipomas. The
characteristic MRI finding is abundant fat
deposition in the malformation. MRA and MRV can
elucidate the composition of focal masses and the
underlying vascular anatomy. Pulmonary
function tests may help evaluate patients with
respiratory symptoms. An electroencephalogram is
indicated for any patient with a history or symptoms
suggesting seizures. Venograms, Doppler studies, or
ventilation/perfusion (V/Q) studies may be helpful
diagnostic tools in patients with symptoms
suggestive of DVT or PE.
Management:
Multidisciplinary approach is a must. Orthopedic
complications often pose the most challenging
medical problems, although vascular complications
also contribute to overall morbidity.
Role
of Interventional Radiology:
Vascular malformations should be evaluated and
managed by interventional radiologists.
Transcatheter interventions such as embolization and
sclerotherapy can be used in selected patients.
References: (*) eMedicine article by Dr.
Beth A Pletcher
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