Brief presentation of how to identify neurocutaneous syndromes

1. Neurocutaneous markers
Dr. SHIV KUMAR SAINI
DM Neurology
Dr RML Hospital,New Delhi

2.  Neurocutaneous disorders are congenital or hereditary conditions that feature
lesions of both the skin and nervous system.
 Although each condition, or phakomatosis, is distinct and characterized by a
unique pathophysiology, the concept of neurocutaneous disorders unifies those
neurological disorders whose identification depends primarily on simple visual
diagnosis.

3. Neurocutaneous Syndromes
 NEUROFIBROMATOSIS
 TUBEROUS SCLEROSIS (TS)
 STURGE-WEBER SYNDROME
 ATAXIA-TELANGIECTASIA
 HEREDITARY HEMORRHAGIC TELANGIECTASIA
 HYPOMELANOSIS OF ITO
 INCONTINENTIA PIGMENTI

4.  EPIDERMAL NEVUS SYNDROME
 NEUROCUTANEOUS MELANOSIS
 CEREBROTENDINOUS XANTHOMATOSIS
 PROGRESSIVE FACIAL HEMIATROPHY
 KINKY HAIR SYNDROME (MENKES DISEASE)
 XERODERMA PIGMENTOSUM
OTHER NEUROLOGICAL CONDITIONS WITH CUTANEOUS MANIFESTATIONS
(Fabry disease, pseudoxanthoma elasticum)

5. Neurofibromatosis
 Typical café-au-lait spots are flat, light to medium brown areas that vary in shape
and size. They typically are present at birth but increase in size and number
during the first few years of life
 skin freckling,1 to 3 mm in diameter, often occurs symmetrically in the axillae
(Crowe sign) and other intertriginous regions.

6.  Soft, pea-sized bumps on or under the skin (neurofibromas). These benign
tumors usually develop in or under the skin, but can also grow inside the body.
Sometimes, a growth will involve multiple nerves (plexiform neurofibroma)

7.  Lisch nodules are pigmented iris hamartomas

8. Tuberous Sclerosis
 Facial angiofibromas (adenoma sebaceum) -The lesions typically become apparent
during the preschool years as a few small red macules on the malar region; they
gradually become papular, larger, and more numerous, sometimes extending down
the nasolabial folds or onto the chin.

9.  Hypomelanotic macules (ash leaf spots)

10.  ungual fibromas are nodular or fleshy lesions that arise adjacent to (periungual) or
underneath (subungual) the nails.

11.  The shagreen patch most often is found on the back or flank area; it is an
irregularly shaped, slightly raised, or textured skin lesion.

14. Sturge-Weber syndrome
 facial cutaneous angioma (port-wine nevus)-The nevus typically involves the
forehead and upper eyelid but also may involve both sides of the face and extend
onto the trunk and limbs.
 Sometimes nevus can developed a nodular texture.
 Episcleral or conjunctival angiomas can occur on the affected side.

15. HEREDITARY HEMORRHAGIC
TELANGIECTASIA(Osler-Weber-Rendu syndrome)
 Cutaneous telangiectasias most often occur on the face, lips, and hands and are
less common on the trunk and nasal mucosa.

16. HYPOMELANOSIS OF ITO
 include streaks or whorls of hypomelanosis on the trunk, limbs, or head,
interspersed with areas of normal skin.

17. INCONTINENTIA PIGMENTI
 Erythematous vesicular rash following a linear pattern on the leg of a neonate

18.  Hyperpigmented lesions in a linear and whorled pattern

19. EPIDERMAL NEVUS SYNDROME
 Epidermal nevi are linear or patchy slightly raised lesions that typically present at
birth but may appear first in early childhood.
 The most common location is on the head or neck.
 Most nevi contain more than one tissue type, the nevus name typically reflects
the predominant tissue.
 Verrucous nevi are the most common type.

20.  Nevus sebaceous on the scalp

21. NEUROCUTANEOUS MELANOSIS
 The characteristic lesions are dark to light brown hairy nevi present at birth .
 Multiple small nevi (satellite nevi) usually are present around one giant nevus that most
commonly appears on the lower trunk and perineal area(swimming trunk nevus).
 Large, dark, hairy nevus covering most of the back of an infant

22. CEREBROTENDINOUS XANTHOMATOSIS
 The Achilles tendon is the most common site of tendon xanthomas, but the
quadriceps, triceps, and finger extensor tendons also show xanthomatous
involvement.

23. PROGRESSIVE FACIAL HEMIATROPHY(Parry-
Romberg syndrome)
 Progressive facial hemiatrophy is characterized by unilateral atrophy of the skin,
subcutaneous tissue, and adjacent bone
 The atrophic area is characteristically oblong or linear and sometimes begins as
a raised erythematous lesion.

24. Kinky hair syndrome(Menkes disease or
trichopoliodystrophy)
 Major feature of kinky hair syndrome include loose skin, hyperextensible joints.
 The hair is light colored and brittle and on microscopic examination appears as pili
torti (twisted hair) and trichorrhexis nodosa (complete or incomplete fractures of
the hair shafts at regular intervals)

25. Xeroderma Pigmentosum
 Cutaneous symptoms in XP is typically freckling or erythema and bullae formation
after sun exposure in early life .
 Telangiectasias and epidermal and dermal atrophy develop in later years, and the
skin becomes dry.

27. Fabry disease
 Angiokeratomas are benign vascular skin lesions
 visible on the lips, hands and toes
 They may be isolated or clustered and appear as small red-to-black papules, with a
smooth epidermal surface

28. Pseudoxanthoma elasticum
 Small (1 to 5 millimetres), asymptomatic, yellowish or skin-colored papules,
presenting in a reticular pattern, that progressively coalesce into larger plaques.
 They are initially located on the lateral and posterior regions of the neck. Flexural
areas, including axillae, inguinal region, antecubital and popliteal fossae, and
periumbilical area

29. references
 Common Neurocutaneous Syndromes.Heather Little, DO; Deepak Kamat, MD,
PhD; Lalitha Sivaswamy, MD Pediatric Annals. 2015;44(11):496-498
 Harrison’s principles of internal medicine,20th ed
 Bradley’s Neurology in Clinical Practice, 7th ed

30. THANK YOU