NEUROCUTANEOUS MARKERS

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NEUROCUTANEOUS MARKERS

• Dr.Ashok.R.Wadhwani

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NEUROCUTANEOUS SYNDROMES
This is a group of genetic disorders, also known
as the phakomatoses,which produces a variety of
developmental abnormalities that frequently
involve skin, along with an increased risk of
nervous system tumors. These disorders are
inherited as autosomal dominant conditions .
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Tuberous sclerosis

• Adenoma sebaceum.
• Ash leaf spots.
• Subungual and gingival fibromas.
• Shagreen patches.
• Fibrous plaques on the forehead.

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ADENOMA SEBACEUMMULTIPLE ANGIFIBROMAS OF THE
FACE .ERYTHEMATOUS PAPULES ON THE LOWER HALF OF
FACE-CHEEKS,NASOLABIAL FOLDS,SIDES OF THE NOSE
AND CHIN.
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ADENOMA SEBACEUM
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ASH LEAF SPOTS. Hypopigmented macules. The
average size is 1 to 3 cm, and the common shapes
are oval, polygonal, and lance-ovate, whereas the
less common shapes are dermatomal and
confettilike.
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Ash leaf spots. "confetti" macules. Multiple,
discrete, small, confetti-like, hypopigmented
macules of variable size on the leg.
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Detection of ash leaf spots may require Wood's
lamp examination(UVA), especially in fair-skinned
individuals. An ash leaf spot on the scalp will
result in poliosis, which is a circumscribed
patch of gray-white hair.
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SUBUNGUAL FIBROMA.
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SUBUNGUAL FIBROMA.
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GINGIVAL FIBROMA.
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SHAGREEN PATCH- Leathery plaques of subepidermal
fibrosis,usually situated on the trunk.
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SHAGREEN PATCH.
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VON RECKLING-HAUSENS DISEASE (NF-1)

• CAFÉ AU LAIT SPOTS.
• AXILLARY FRECKLING.

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CAFÉ AU LAIT SPOTS. PIGMENTED MACULES(gt1 CM) ON
THE TRUNK. PLEMIFORM NEUROMA SEEN.
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Several larger (gt1.0 cm) cafe-au-lait macules on
the upper chest and multiple small macules in the
axillae (axillary "freckling")
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STURGE WEBER SYNDROME

• CAPILLARY HAEMANGIOMA.

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THANK YOU