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By: Ismah Haron

DERMATOLOGY IN NEUROLOGY

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• Neurofibromatosis (incidence; 1 in 4000 births)1

• Tuberous sclerosis complex (incidence; 1 in 6000 births)1

• Xeroderma pigmentosum (incidence; 1 in 250 000 live births)4

• Incontinentia pigmenti (incidence; 1 in 40 000)5

• Sturge-Weber syndrome (incidence; 1 in 50 000)2

• Ehlers-Danlos syndrome (combined prevalence of all types; 1 in 5000)3

OUTLINE

1. Robert Wood Johnson University Hospital. Neurocutaneous Syndrome. http://www.rwjuh.edu/health_information/adult_neuro_neurocut.html

2. Thomas-Sohl, K. A., Vaslow, D. F., & Maria, B. L. (2004). Sturge-Weber syndrome: a review. Pediatric neurology, 30(5), 303-310.

3. U.S. National Library of Medicine. Genetic Home Reference. http://ghr.nlm.nih.gov/4. http://www.bmj.com/content/336/7641/444

5. Joseph A. Joyce CRNA BS. Perianesthesia Patient Care for Uncommon Diseases, 1e.

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Café au lait spots & skin neurofibromas

Axillary freckling

http://dermatlas.med.jhmi.edu/

Plexiform neurofibromas

Neurofibromatosis 1 2

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• Autosomal dominant; type 1 and 2

• Type 1; onset at birth- Gene on chromosome 17 encode neurofibromin

(protein)- Diagnosis ≥ 2: Skin neurofibromas, café-au-lait

patches, axillary/inguinal freckling, lisch nodule, plexiform neurofibromas, optic glioma, osseous lesion

- Learning difficulty, skeletal dysplasia, seizure, visual disturbance

- Rarely associated with endocrine disorder e.g. phaechromocytoma, acromegaly

• Type 2; onset at adolescent- Gene on chromosome 22 produce cytoskeletal protein

i.e. Schwannomin- Neural tumor e.g. meningioma, acoustic neuroma- Less skin lesion

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http://dermatlas.med.jhmi.edu/

Tuberous sclerosis complex

Adenoma sebaceum

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Periungual fibroma

Shagreen patches

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2

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Forehead plaqueAsh-leaf hypopigmentation

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http://dermatlas.med.jhmi.edu/

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• Autosomal dominant

• Mutation TSC1 gene or TSC2 gene

• Onset: childhood

• Mental retardation, epilepsy, cutaneous abnormalities

• Diagnosed clinically, required 2 major features + 2 minor features

• Internal hamartomas in heart, kidney, lung, retina & CNS

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Major Features Minor Features

• Facial angiofibromas or forehead plaque

• Non-traumatic ungual or periungual fibroma

• Hypomelanotic macules (more than three)

• Shagreen patch• Multiple retinal nodular

hamartomas• Cortical tubera

• Subependymal nodule• Subependymal giant cell

astrocytoma• Cardiac rhabdomyoma, single

or multiple• Lymphangiomyomatosisb

• Renal angiomyolipomab

• Multiple randomly distributed pits in dental enamel

• Hamartomatous rectal polypsc

• Bone cystsd

• Cerebral white matter migration lines a,d,e

• Gingival fibromas• Non-renal hamartomac

• Retinal achromic patch• "Confetti" skin lesions• Multiple renal cystsc

Diagnostic criteria of TSC

Tuberous Sclerosis Alliance. http://www.tsalliance.org/pages.aspx?content=54

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http://dermatlas.med.jhmi.edu/

Xeroderma pigmentosum1 2

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• Autosomal recessive• Onset: infancy• Genetic inability to repair DNA damage that has been

induced by ultraviolet light

• Photosensitivity to skin• Sun exposure severe sunburn freckling at face,

arm, lips dry skin, pigmentation

• Higher risk for skin cancer• Eyes sensitive to UV• Progressive neurological abnormalities include

hearing loss, poor coordination, difficulty walking, movement problems, loss of intellectual function, difficulty swallowing and talking, and seizures

http://www.bmj.com/content/336/7641/444U.S. National Library of Medicine. Genetic Home Reference. http://ghr.nlm.nih.gov/

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http://dermatlas.med.jhmi.edu/

Incontinentia pigmenti

Blistering rash

Wart-like skin growths

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2

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http://dermatlas.med.jhmi.edu/

Hyperpigmentation in a swirled pattern

Hypopigmentation

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4

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• Inherited X linked, onset: at birth/infancy

• IKBKG gene mutation

• Skin:- Blistering rash Wart-like skin growths

Hyperpigmentation in a swirled pattern Hypopigmentation

• Other features:- Hair loss affecting the scalp and other parts of the body- Dental abnormalities (such as small teeth or few teeth)- Eye abnormalities that can lead to vision loss- Lined or pitted fingernails and toenails- Normal intelligence or may affect the brain - Delayed development or intellectual disability, seizures

U.S. National Library of Medicine. Genetic Home Reference. http://ghr.nlm.nih.gov/

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http://dermatlas.med.jhmi.edu/

Sturge-Weber syndrome

Port wine stain

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• Sporadic

• Onset: at birth

• Features: - Port wine stain (formation of too many tiny blood

vessels under the skin) - Seizure- Hemiplegia- Glaucoma- Learning disability

http://www.ncbi.nlm.nih.gov/pubmedhealth/PMH0002399/Robert Wood Johnson University Hospital. Neurocutaneous Syndrome.

http://www.rwjuh.edu/health_information/adult_neuro_neurocut.html

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http://dermatlas.med.jhmi.edu/

Ehlers-Danlos syndrome

Scarring like tissue paper

Piezogenic papulesHyperextensible

Pseudotumor

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3

2

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• The inheritance pattern varies by type

• 10 types

Type IV- Autosomal dominant- Arteries, bowel, uterus, skin- Mutation in COL3A1 gene abnormality in structure,

synthesis or secretion of type III collagen

• Hypermobile joint, fragile blood vessels, internal hemorrhage

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NF TSC XP IP SWS EDS

Genetic Autosomal dominant Autosomal recessive

X linked Sporadic Various

Onset Type 1: birthType 2: teen

Childhood Infancy Birth/infancy

Birth

Skin features

Skin neurofibromas, café-au-lait patches, axillary/inguinal freckling, plexiform neurofibroma

Adenoma sebaceum, periungual fibroma, shagreen patches, ash-leaf hypopigmentation, forehead plaque

Severe sunburn, freckling at face, arm, lips, dry skin, pigmentation

Blistering rash, wart-like skin growths, hyperpigmentation in a swirled pattern, hypopigmentation

Port wine stain

Hyperextensible skin, piezogenic papules, scarring like tissue paper, pseudotumor

Others Diagnosis required 2 major features + 2 minor features

Higher risk for skin cancer

Many types

SUMMARY

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THANK YOUOther reference: Kumar & Clark’s Clinical

Medicine