NEUROCUTANEOUS MARKERS Dr.Ashok.R.Wadhwani

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 .

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

ADENOMA SEBACEUM:MULTIPLE ANGIFIBROMAS OF THE FACE ADENOMA SEBACEUM:MULTIPLE ANGIFIBROMAS OF THE FACE .ERYTHEMATOUS PAPULES ON THE LOWER HALF OF FACE-CHEEKS,NASOLABIAL FOLDS,SIDES OF THE NOSE AND CHIN.

ADENOMA SEBACEUM

ASH LEAF SPOTS. Hypopigmented macules 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.

Ash leaf spots. "confetti" macules Ash leaf spots. "confetti" macules. Multiple, discrete, small, confetti-like, hypopigmented macules of variable size on the leg.

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.

SUBUNGUAL FIBROMA.

SUBUNGUAL FIBROMA.

GINGIVAL FIBROMA.

SHAGREEN PATCH- Leathery plaques of subepidermal fibrosis,usually situated on the trunk.

SHAGREEN PATCH.

VON RECKLING-HAUSEN’S DISEASE (NF-1) CAFÉ AU LAIT SPOTS. AXILLARY FRECKLING.

CAFÉ AU LAIT SPOTS. PIGMENTED MACULES(>1 CM) ON THE TRUNK. PLEMIFORM NEUROMA SEEN.

Several larger (>1.0 cm) cafe-au-lait macules on the upper chest and multiple small macules in the axillae (axillary "freckling")

STURGE WEBER SYNDROME CAPILLARY HAEMANGIOMA.

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