Malformations: Benign vascular malformations of the newborn
are difficult to classify because of their great variety and
overlap in clinical and histopathologic appearance. One method
of classification is based upon whether or not the lesion has
proliferative and regressive phases: hemangiomas do have such
phases, and are called cellularly dynamic; vascular ectasias,
such as port-wine stain and salmon patches, are called cellularly
adynamic because they lack proliferative/regressive phases.
and lymphangiomas are the most common benign tumors of the
skin and deeper tissues in the newborn. They represent sequestration
of fetal tissue, and may be present at birth or appear in
the first months after birth. Clinically classified, capillary
hemangiomas include port-wine stain, strawberry hemangioma
and salmon patch. Other clinical classifications of hemangiomas
are capillary/cavernous, cavernous, and verrucous, keratotic
Vascular malformations also include lymphangiomas, lymphangiohemangiomas,
arteriovenous malformations and vascular gigantism.
benign tumors of the skin range in size and appearance from
very small and negligibly disfiguring to very large and overwhelmingly
disfiguring. Some cellularly dynamic hemangiomas such as the
so-called strawberry lesion may regress and disappear during
the first weeks or months of the infant's life. Large, critically
located hemangiomas and lymphangiomas can be life-threatening
as well as substantially disfiguring. Multiple hemangiomas
of the newborn with diffuse involvement of the skin, liver,
and intestinal tract pose a significant mortality risk.
Arteriovenous malformations: Arteriovenous malformations are
defects of the circulatory system that are generally believed
to arise during embryonic or fetal development or soon after
birth. Although AVMs can develop in many different sites,
those located in the brain or spinal cord can have especially
widespread effects on the body. Most people with neurological
AVMs experience few, if any, significant symptoms. The malformations
tend to be discovered only incidentally, usually either at
autopsy or during treatment for an unrelated disorder. But
for about 12 percent of the affected population (about 36,000
of the estimated 300,000 Americans with AVMs), these abnormalities
cause symptoms that vary greatly in severity.
A hemangioma is an abnormal buildup of blood vessels in the
skin or internal organs. The hemangioma may occur in the top
skin layers (capillary hemangioma), deeper in the skin (cavernous
hemangioma), a combination of both. Hemangiomas of infancy
are benign (non-cancerous) vascular tumors composed of cells
that normally line the blood vessels (endothelial cells).
They are the most common tumor of childhood, occurring in
up to 10% of infants. Hemangiomas are seen in all racial groups
but are more common in Caucasians. They also occur more frequently
in girls and low-birth-weight (less than 1,000 grams) premature
Hemangiomas of infancy may be visible at birth or may not
be recognized until the first few weeks or even months of
life. In general, however, most hemangiomas become evident
by 2 to 3 weeks of age. Although they commonly occur on the
head or neck (60%), they can occur in any region of the body.
Some lesions are small and hardly visible, whereas others
are large and readily observable. Most hemangiomas appear
as single tumors, though 15% present with more than one lesion.
Hemangiomas are classified as superficial, deep, or combined,
depending upon the involvement of the skin and other soft
tissues. If the lesion is near the skin surface, it is referred
to as a superficial hemangioma. If it grows in the lower layers
of the skin or in muscle, it is called a deep lesion. When
it has components of both superficial and deep lesions, we
refer to it as a combined lesion. Superficial lesions appear
as bright red, raised or flat patches on the skin or a textured
area that resembles the appearance of a strawberry. Veins
radiating from the lesion also may be visible beneath the
skin. Deep hemangiomas have a gray to blue hue, but due to
their depth they may not be noticed for many weeks or months
after birth, although they are growing. This type of lesion
is firmer and more rubbery to touch, and its color does not
completely disappear when you press on the area. Combined
lesions may have a layered combination of red on top and blue
below. As hemangiomas involute, they undergo a change in consistency
and color, becoming softer and grayer. Eventually, the lesion
is replaced internally by fatty tissue. The more visible involved
skin is replaced by thin skin that appears more normal.
The cause of hemangiomas is not yet understood, but it is
known that they are not related to drugs or medications that
may have been taken during pregnancy, nor are they related
to any known environmental exposures that may have occurred
during that time. Although no specific gene abnormality has
been identified, in some families multiple family members
over several generations have been affected.
Klippel-Trenaunay Syndrome: Varied in its presentation but
is classically described as an enlarged extremity on one side
of the body with an overlying port-wine stain. Classically
there is an underlying vascular tumor comprised of veins or
lymphatic vessels. Excessive bone growth in the involved limbs
may occur as well.
Lymphangiomas (lymphatic malformations) are skin bumps caused
by a collection of enlarged lymph vessels-the channels that
carry lymph (a clear fluid related to blood) throughout the
body. Lymphangiomas are uncommon but usually appear between
birth and age 2. They may be tiny bumps or large, deforming
growths. Lymphangiomas do not itch or hurt and are not a form
of cancer. Most lymphangiomas are yellowish tan, but a few
are reddish. When injured or punctured, they release a colorless
fluid. Treatment is not usually needed. Removal by surgery
is usually not successful since lymphangiomas grow deep and
wide beneath the surface.
Stain: A capillary malformation (commonly referred to
as a port-wine stain), is a flat, sharply defined vascular
stain of the skin. It may cover a large surface area or it
may be scattered and appear as little islands of color. It
can be anywhere on the body and in more than one place on
the body, but is most commonly seen in the head/neck region.
The exact cause of this lesion is not known, but it is thought
that it arises because of abnormal formation of the tiny blood
vessels of the skin early in the life of the embryo, after
the larger blood vessels are in place. Capillary malformations
are unrelated to drugs or medications that may have been taken
during pregnancy or to environmental exposures that may have
occurred at that time.
Although the number of blood vessels in a capillary malformation
is normal, the diameter of the affected vessels is much larger
than that in normal vessels; this enlargement results in increased
blood flow. Because the vessels are close to the surface,
this increased flow gives the skin its pink to purple appearance.
As your child grows, the affected blood vessels will continue
to enlarge and thicken, causing the color of the lesion to
darken. Over time, the clusters of tiny, dilated venules (small
vessels that collect blood from the capillary junctions and
join to form veins) give a lumpy appearance to the skin. The
period of time over which this progression occurs varies greatly
from person to person, and may even be delayed until ages
40, 50, or 60.
malformations on the forehead and upper eyelid can be associated
with lesions of the brain and eye (Sturge-Weber syndrome).Capillary
malformations also can overlie other vascular lesions such
as lymphatic malformations, venous malformations, or arteriovenous
seen birthmarks in fair-skinned infants are capillary malformations.
When these birthmarks appear on the forehead, eyelids, nose,
or upper lip, they are often referred to as "angel kisses."
When located on the base of the neck, they are often referred
to as "stork bites."
syndrome: Sturge-Weber syndrome is a rare congenital (present
at birth) condition of unknown origin. A portwine stain (capillary
malformation) on the face and often the eyelids may signal
the presence of this syndrome; however, not all infants with
a facial capillary malformation have this syndrome. Variation
in the size of the facial lesion is common, and one or both
sides of the face may be involved.
The mucous membranes (lining of the mouth and nose) and the
meninges (covering of the brain) also can be affected.Because
brain involvement is variable, symptoms differ from person
to person. Some patients have no symptoms, whereas others
may develop visual problems, seizures, or weakness or paralysis
on one side. Learning disabilities ranging from mild to severe,
as well as mental retardation, also are seen.
When a child has an extensive capillary malformation (portwine
stain) that involves the skin on the eyelids, diagnostic tests
should be performed. An MRI determines if there is brain involvement.
An eye examination determines if glaucoma (increased pressure
of the fluid within the eye) is present.
Venous malformations: Venous malformations comprise either
superficial or deep veins that are abnormally formed and dilated.
The walls of these vessels are thin because they lack smooth
muscle. They are the most common type of vascular malformation.
Although they usually are present at birth, they may not be
seen until years later. The natural history of a venous malformation
is slow, steady enlargement. However, events such as surgery,
trauma, infection, or hormonal changes associated with puberty,
pregnancy, or menopause may cause rapid expansion. These lesions
may be present in the skin, mucous membrane or in any organ
system including the brain, bowel, liver, or spleen.
Although the exact cause of these lesions has not yet been
determined, a deficiency of smooth muscle cells in the vein
walls is known to be a critical factor. Neither drugs nor
medications that may have been taken during pregnancy nor
environmental exposures that may have occurred during that
time could have caused a venous malformation. There have been
some families identified with multiple venous malformations
that have alterations in the genes responsible for the communication
of endothelial cells and smooth muscle.
Venous malformations can be superficial or deep or can have
both superficial and deep components. They can also be localized
or diffuse and can occur in more than one site. Their color
depends upon the depth and amount of expansion in the affected
vessels. The closer these vessels are to the surface, the
deeper the color. A superficial lesion thus tends to be maroonish-red,
whereas a deep lesion may show a bluish hue. A very deep lesion
may have no color, but just reveal itself as a protruding
mass. Venous malformations are soft to touch. When they are
compressed, the color changes as the blood empties out. When
your child cries or is lying down, the lesion expands, the
blood vessels fill, and the color becomes more intense.
other conditions Share
A Smile TM
® has provided treatment for:
Deformational brachycephaly is present when the entire back
of the baby's head is flat (central flattening) and the head
is very wide. The forehead is often bossed or prominent on
both sides, and the height of the head is excessively high.
In our experience, deformational brachycephaly without asymmetry
accounts for about 1 in 10 of the children referred for treatment.
Often babies with this problem have a history of excessive
time in carriers, possibly due to gastric reflux or other
medical condition or circumstance that does not allow the
baby to be placed on the tummy during daytime hours while
awake and supervised.
Craniosynostosis is a birth defect of the brain characterized
by the premature closure of one or more of the fibrous joints
between the bones of the skull (called the cranial sutures)
before brain growth is complete. Closure of a single suture
is most common. In contrast to normal skull growth, in which
the skull expands uniformly to accommodate the growth of the
brain, premature closure of a single suture restricts the
growth in that part of the skull and promotes growth in other
parts of the skull where sutures remain open. This results
in an abnormal shape of the skull, but does not prevent the
brain from expanding to a normal volume. However, when many
sutures close prematurely, the skull cannot expand to accommodate
the growing brain, which leads to increased pressure within
the skull and impaired development of the brain. Craniosynostosis
can be gene-linked, or caused by metabolic diseases, such
as rickets or an overactive thyroid. Some cases are associated
with other disorders such as microcephaly (abnormally small
head) and hydrocephalus (excessive accumulation of cerebrospinal
fluid in the brain). The first sign of craniosynostosis is
an abnormally shaped skull. Other features can include signs
of increased intracranial pressure, developmental delays,
or mental retardation, which are caused by constriction of
the growing brain. Seizures and blindness may also occur.
Deformational Plagiocephaly (also commonly referred to as
"flat head syndrome") is the abnormal shape of a
baby's head caused by external forces. It is estimated that
1 in 5 babies have some degree of head shape asymmetry, or
plagiocephaly. Plagiocephaly can be the result of a baby's
in utero positioning, torticollis (tightening of the neck
muscle), or even prolonged periods of time spent on their
backs while sleeping and in carriers. The baby's head may
appear to be misshapen or asymmetrical immediately after birth,
or the abnormal shape may become noticeable in the first few
months of life. Parents, grandparents, and caregivers are
often the first ones to notice the unusual shape of the head,
and they bring it to the pediatrician's attention.
Deformational scaphocephaly is characterized by a long and
narrow head shape, sometimes caused by consistent positioning
of the baby on its side. Like brachycephaly, scaphocephaly
is a deformity of proportion. Premature babies are particularly
prone to this deformity since their skulls are so fragile,
and a side-lying position is often used in the Neonatal Intensive
Care Unit (NICU) for easy access to monitors and other equipment.
Torticollis is usually caused by an imbalance in the sternocleidomastoid
and other neck muscles, which prevents full range of motion
in the neck. It is estimated that about 85% of the babies
with deformational plagiocephaly also have some level of torticollis.
Typically, the head of a baby with torticollis is slightly
tipped to one side and rotated to the opposite shoulder, causing
the head to consistently rest in the same position. The constant
positioning of the head to the same side causes it to become
flat in the back. Torticollis can also pull abnormally on
the base of the skull and cause the ear on the same side as
the posterior flattening to be pushed more forward than the
opposite ear. In severe cases, the forehead can also be pushed
forward on the same side, and the facial features including
the eyes, cheeks, and jaw may not be symmetrical.