NEUROCUTANEOUS NEUROCUTANEOUS MARKERSMARKERS

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 .ERYTHEMATOUS PAPULES ON THE

LOWER HALF OF FACE-CHEEKS,NASOLABIAL FOLDS,SIDES OF THE NOSE AND CHIN.

ADENOMA SEBACEUM

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. 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.