Dermatoly in neurology
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This document summarizes several neurocutaneous syndromes: neurofibromatosis (NF), tuberous sclerosis complex (TSC), xeroderma pigmentosum (XP), incontinentia pigmenti (IP), Sturge-Weber syndrome (SWS), and Ehlers-Danlos syndrome (EDS). It describes the genetic causes, typical ages of onset, key skin features, and other clinical manifestations of each condition. NF is caused by mutations in two genes and is characterized by cafe au lait spots and skin/plexiform neurofibromas. TSC results from mutations in two other genes and presents with adenoma sebaceum, shagreen patches, and hamartomas in
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Dermatoly in neurology
- 1. By: Ismah Haron DERMATOLOGY IN NEUROLOGY 1
- 2. • 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. 2
- 3. Café au lait spots & skin neurofibromas Axillary freckling http://dermatlas.med.jhmi.edu/ Plexiform neurofibromas Neurofibromatosis 1 2 3 3
- 4. 4 • 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
- 5. http://dermatlas.med.jhmi.edu/ Tuberous sclerosis complex Adenoma sebaceum 1 Periungual fibroma Shagreen patches 3 2 5
- 7. 7 • 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
- 8. 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 8
- 10. 10 • 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/336/7641/444 U.S. National Library of Medicine. Genetic Home Reference. http://ghr.nlm.nih.gov/
- 11. 11 http://dermatlas.med.jhmi.edu/ Incontinentia pigmenti Blistering rash Wart-like skin growths 1 2
- 12. 12 http://dermatlas.med.jhmi.edu/ Hyperpigmentation in a swirled pattern Hypopigmentation 3 4
- 13. 13 • 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/
- 15. 15 • 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
- 16. 16 http://dermatlas.med.jhmi.edu/ Ehlers-Danlos syndrome Scarring like tissue paper Piezogenic papulesHyperextensible Pseudotumor 1 3 2 4
- 17. 17 • 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
- 18. 18 NF TSC XP IP SWS EDS Genetic Autosomal dominant Autosomal recessive X linked Sporadic Various Onset Type 1: birth Type 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 hypopigmenta tion, forehead plaque Severe sunburn, freckling at face, arm, lips, dry skin, pigmentation Blistering rash, wart-like skin growths, hyperpigment ation in a swirled pattern, hypopigmenta tion Port wine stain Hyperextensi ble 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
- 19. THANK YOU Other reference: Kumar & Clark’s Clinical Medicine 19
Editor's Notes
- Dahan, D., Fenichel, G. M., & El-Said, R. (2002). Neurocutaneous syndromes.Adolescent medicine (Philadelphia, Pa.), 13(3), 495.
- 2 mm-4 cm hyperpigmented macules and 4-6 mm hyperpigmented nodules at back Multiple 2-3 mm hyperpigmented macules at axilla Fleshy lesion at arm Café: brown macules, >2.5cm in diameter, more than 5 lesions Neurofibroma: soft subcutaneous, sometimes pedunculated, lumps; benign tumor grows along nerve/nervous tissue Plexiform: plexus/network Plexiform neurofibromas: diffuse, deep growths along nerve plexuses or dorsal nerve roots, which often cause neuronal compression, appear on major nerves and proximal nerve roots ± spinal cord Freckling: spotting
- light brown smooth topped 2-3 mm papules pink smooth fibrotic multilobulated nodules 6 cm X 2.5 cm skin colored to slight pink-brown pebbly plaque with leathery texture and well demarcated border
- well demarcated irregularly shaped hypopigmented macule 1.5 cm pebbly brown well demarcated plaque
- The diseases are named after a tuber- or root-shaped growth in the brain TSC1 & 2 gene: tumor suppressor? + café & pitting dental enamel Diagnostic criteria: http://www.tsalliance.org/pages.aspx?content=54
- Definite TSC: Either 2 major features or 1 major feature with 2 minor features Probable TSC: One major feature and one minor feature Possible TSC: Either 1 major feature or 2 or more minor features a When cerebral cortical dysplasia and cerebral white matter migration tracts occur together, they should be counted as one rather than two features of TSC. b When both lymphangiomyomatosis and renal angiomyolipomas are present, other features of TSC should be present before a definitive diagnosis is assigned. c Histologic confirmation is suggested. d Radiographic confirmation is sufficient. e One panel member recommended three or more radial migration lines consitute a major feature.
- This 5-year-old girl developed generalized freckling with papules, crusts, and hypopigmentation in sun exposed areas. These lesions progressed and a year later she had developed crusted papules with erosions. The skin lesions and bulbar conjunctival pterygium were typical of xeroderma pigmentosum --generalized brown 2-4 mm dark brown macules with some hypopigmented macules and patches, brown papules, and scattered crusts
- abnormalities in the NER-related genes, POLH gene, XPC, ERCC2 gene
- Blanching red patch; a red–purple area of skin discolouration (port wine stain), usually over the ophthalmic division of the trigeminal nerve
- Underlying the skin lesion, the leptomeninges contain multiple angiomata (meningeal angioma) and over time the adjacent cortex becomes calcified and may cause seizures.
- Hyperextensible of elbow skin outpouching of fat through defects in the dermis on the sides of the feet. Scarring like tissue paper broad hyperpigmented atrophic fibrotic plaque; consisting mainly fat ± calcification