Neurocutaneous markers
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Café-au-lait spots, neurofibromas, Lisch nodules, and axillary freckling are characteristic of neurofibromatosis type 1. Plexiform neurofibromas appear as subcutaneous elastic tumors over the face, scalp, neck and chest. Adenoma sebaceum presents as numerous discrete smooth papules over the butterfly area of the face and nasolabial folds. Shagreen patches are irregular cobblestone-like plaques in the lumbosacral area, a characteristic of tuberous sclerosis. Ocular and cutaneous telangiectasias occur in Ataxia telangiectasia, appearing as dilated blood vessels over
Neurocutaneous markers
- 1. NEURO CUTANEOUS MARKERS by Dr. Kurian Joseph 1. Café- au- lait spots - Dark brown hypermelanotic macules with smooth or irregular borders, commonly seen in back, buttocks and trunk. - Seen in neurofibromatosis. Also seen in Albright's synd, Fanconi anemia, Bloom syndrome. - Axillary Freckling - similar small round spots in axilla and inguinal areas are pathognomonic in NF. 2. Neurofibromas - Two types. These are multiple subcutaneous papules and nodules in NF. - Fusiform neurofibromas – Firm discrete subcutaneous nodules attached to a nerve. - Plexiform neurofibromas – Subcutaneous elastic tumors, feel like a bag of worms over face, scalp, neck and chest. 3. Lisch nodules - Slightly raised well circumscribed melanotic iris nodules seen by slit lamp in 90% of NF pts. 4. Adenoma sebaceum (Facial angiofibroma) - Numerous discrete smooth glistening round rubbery papules pinhead to pea size, over butterfly area in the face and nasolabial folds, cheeks, nose, chin. - These are slow growing angiofibroma. Seen in 90% of pts in Tuberous Sclerosis (TS) by 4 yrs of age. DD – Acne vulgaris. 5. Shagreen patch – These are Connective tissue naevi. Skin colored irregular lumpy cobblestone- like plaques in lumbosacral areas which grow to the size of a palm. - Satellite papules grow around a central plaque with orange peel like indentation. - Seen in 70% of pts in TS. Also seen in MEN1, Cowden syndrome and Hunter's syndrome. 6. Subungual & Periungual Fibromas - Firm pink to skin colored papules, nodules from under the nail bed in toe & finger nails. Seen in 90% of pts in TS. 7. Ash leaf macules - Hypomelanotic polygonal macules grow upto 5 cm over trunk and buttocks. - >3 lesions are seen in 90% of TS patients. Also seen in MEN1, vitiligo, nevus anemicus, koyanagi syndrome. 8. Port Wine Stain (Facial nevus flemmens) – Congenital macular lesions light pink initially, can progress to red purple nodules over the skin, choroidal and leptomeningeal vessels and other body areas. - Seen in Sturge Weber syndrome. 9. Ocular telangiectasia – Dilated blood vessels over sclera. - Seen after development of ataxia, around 3 – 6 yrs of age in patients with Ataxia Telangiectasia.. 10. Cutaneous telangiectasia - Venous angiomas over the bridge of nose, butterfly area of the face, ante cubital area, neck, popliteal fossa - Seen in 90% of pts by 5-6 yrs in AT (louis- Bar disease) and also in Von Hippel Lindau disease. Cafe au lait spots Fusiform Neurofibroma Plexiform Neurofibroma Freckling Lisch nodules Adenoma sebaceum
- 2. . Shagreen patch Subungual fibroma Ash leaf macules Port wine stain Ocular telangiectasia Cutaneous telangiectasia Neuro cutaneous syndromes: 1. Neurofibromatosis: Two clinical types. Chromosome 17 defect NF1 (von Recklinghausen’s diseas e/ Peripheral NF ) - Diagnostic criteria are presence of ≥2 of the foll. ① ≥6 cafe au lait spots each >15mm dia.m in adults. ② ≥2 Neurofibroma or one Plexiform NF. ③ Axillary / Inguinal Freckles. ④ ≥2 Lisch nodules. ⑤ Bone lesions e.g. Sphenoidal Dysplasia, Tibial pseudoarthrosis. ⑥ 1st degree rel. with NF1. NF 2 – (central NF) - Few or no skin lesions, B/L Acoustic Neuroma, Cerebral & optic nerve gliomas, Meningiomas, Spinal neurofibromas. 2. Tuberous Sclerosis: (Bournville’s disease) Classic Triad of Mental Retardation + Epilepsy + Skin lesions (Ash leaf macules, Adenoma sebaceum, Sub & Periungual fibromas, Shagreen patches). Other features – Hyperplastic gums, retinal phakomas, renal lung & heart tumors, cerebral gliomas, calcification of basal ganglia. 3. Von Hippel–Lindau Disease: Characterized by the combination of retinal, cerebellar & spinal hemangioblastomas. Chr 3 defect 4. Sturge Weber Syndrome: Characterized by facial nevus flemmens (Port wine stain-usually along distribution of ophthalmic br. of 5th nerve), contra lateral focal seizures, calcification of cortical & sub cortical structures, glaucoma on the same side of skin lesions. 5. Ataxia Telangiectasia: Progressive cerebellar ataxia, oculo-cutaneous telangiectasia, pulmonary & sinus infections, immunodeficiency, choreo-athetosis, lymphoreticular malignancy. All the Neuro cutaneous syndromes are inherited except SWS. And all these are inherited as Autosomal Dominant except Ataxia Telangiectasia which is autosomal recessive.