NEUROCUTANEOUS           SYNDROME            DR. PANKAJ BAJAJ            1ST YEAR DNB PEDIATRIC            J.L.N.Hospital ...
TOPICS TO BE            COVERED………. DEFINITION CLASSIFICATION DETAILS OF EACH NEURO  CUTANEOUS SYNDROME5/30/2012       ...
DEFINITION   The neurocutaneous syndromes include a   Heterogeneous     group      of     disorders   Characterized by abn...
CLASSIFICATION   Disorders classified as neurocutaneous syndromes    Include    Neurofibromatosis    Tuberous Sclerosis...
NEUROFIBROMATOSIS Neurofibromatosis are autosomal dominant  Disorders that cause tumors to grow on  Nerves and result in ...
NEUROFIBROMATOSIS 1            (NF-1)   Most prevalent type   Incidence of 1/3,000   Autosomal dominant disorder   Ove...
    It is diagnosed when any 2 of the following 7 features Are    present:    (1) Six or more Cafe-au-lait macules    (2)...
Cafe-au-lait macules• Over 5 mm in greatest diameter in prepubertal individuals.• Over 15 mm in greatest diameter in postp...
Axillary or inguinal freckling• Multiple hyperpigmented areas 2-3 mm in diameter.• Skinfold freckling usually appears betw...
Two or more iris Lisch nodules• Hamartomas.• located within the iris .• Best identified by a slit-lamp examination.• They ...
Two or more neurofibromas or 1 plexiform                                       neurofibroma• SITES involve the skin, perip...
Distinctive Osseous lesion            Sphenoid Dysplasia5/30/2012   JLNH & RC                        12
•    Scoliosis is Most Common Orthopedic manifestation- Not specific for      diagnostic criterion •    Cortical thining o...
Optic Gliomas                                represent mostly low-grade Astrocytomas• it is recommended that all children ...
•The MRI findings of an optic glioma include diffuse thickening, localized enlargement, or a              distinct focal m...
•A first-degree relative with NF-1 whose diagnosis was based on the aforementioned                                      cr...
Complications Seizures Hydrocephalus learning  disabilities, ADHD, Speech  disorder Macrocephaly Moya-moya Disease P...
NEUROFIBROMATOSIS 2            (NF-2) Rarer condition Incidence of 1/25,000 The NF2 gene (also known as merlin or  Schw...
 May be diagnosed when 1 of the following  4 Features is present: (1) bilateral vestibular schwannomas (2) a parent, si...
   (3) unilateral vestibular schwannoma and    any          2      of      the following:    meningioma, schwannoma, Glio...
Bilateral Acoustic Neuromas                      •Hearing loss                      •Unsteadiness                      •He...
• Ependymomas –most                      (80%)in spinal cord.                    • Spinal Schwannomas                     ...
Treatment and Management of        NF-I and NF-II• Genetic counseling        • Tests should be• Half result from          ...
Tuberous Sclerosis   TSC is an extremely heterogeneous disease    With a wide clinical spectrum varying from    Severe   ...
 Autosomal dominant trait with variable  Expression. Prevalence of 1/6,000 newborns. Spontaneous genetic mutations occu...
   The TSC1 and TSC2 genes are tumor    suppressor Genes.   Both are involved in a key pathway in the cell    that Regul...
 MAJOR FEATURES OF TUBEROUS SCLEROSIS  COMPLEX  Cortical tuber   Subependymal nodule   Subependymal giant cell astrocyto...
   MINOR FEATURES OF TUBEROUS    SCLEROSIS COMPLEX    Cerebral white matter migration lines     Multiple dental pits    ...
Ash leaf skin lesions   at least 3 hypomelanotic macules must be    present      • Hypopigmented in 90% of patients      ...
Retinal lesions                       • Mulberry Tumors                       • Retina Nerve fiber                        ...
Tuberous Sclerosis     Sebaceous adenomas –Facial Angiofibroma– 8-10 .     by adolescence fully developed Forehead Plaque....
Shagreen patch     • Roughened, raised lesion with an       Orange-peel        consistency    located       Primarily in t...
Ungual or periungual fibroma5/30/2012     JLNH & RC       33
Confetti skin lesions5/30/2012           JLNH & RC                                    34
Characteristic Tubers• -Candle Dripping appearance.• -subependymal/decreased neurons/proliferation of astrocytes.• 5/30/20...
Cardiac Rhabdomyoma.5/30/2012           JLNH & RC                                   36
Infantile Spasm            Hypsarrhythmias5/30/2012        JLNH & RC                               37
Treatment• Renal Ultrasound         • Seizure control-• Echo                         ACTH for infantile• CT/MRI brain     ...
kidneys angiomyolipomas   The current recommendation is to follow    Them by yearly imaging, and when the    lesion Becom...
ROUTINE FOLLOW-UP  Physical examination: Brain MRI every 1-3 yr, Renal imaging (ultrasound, CT, or MRI)  every 1-3 yr ...
Sturge-Weber Syndrome   Sturge-Weber syndrome (SWS) is a    sporadic Vascular disorder and consists of a    Constellation...
 1 per 50,000 live births have SWS. Etiology remains unclear. ??Anomalous        development     of  the  embryonic vas...
Clinical Manifestations   The facial port-wine stain.     Overall incidence be 8-33% The capillary malformation. Buphth...
Unilateral, and always involves the upper face                 And eyelid, in a distribution consistent with the          ...
Buphthalmos5/30/2012      JLNH & RC                           45
   Epilepsy    75-90%,1st yr of life.    Focal tonic-clonic and Contralateral to the    side Of the facial capillary Malf...
Diagnosis   Based on the involvement of the brain and the    Face, there are 3 types according to the Roach    Scale:   ...
Rail-Road Track Calcification      • Gyriform Pattern of the Cortical5/30/2012                JLNH & RC          Calcifica...
Unilateral cortical atrophy5/30/2012         JLNH & RC                                     49
Treatment Symptomatic and multidisciplinary. It is aimed at Controlling seizures Treating headaches Preventing stroke...
   laser therapy for the cutaneous capillary    Malformations. If      the seizures are refractory to    anticonvulsant ...
Von Hippel–Lindau Disease   Von Hippel–Lindau (VHL) disease affects    many Organs, including the    cerebellum, spinal  ...
 Include cerebellar hemangioblastomas and  Retinal angiomas. Cystic lesions of the  kidneys, pancreas, liver, And epidid...
Cerebellar Hemangioblastoma                                     Raised Intra Cranial                                     ...
Retinal Angioma                                       Peripheral-Initially vision is                                     ...
PHACE/S SyndromePosterior fossa malformationsHemangiomasArterial anomaliesCoaractation of the aortaEye abnormalities+Stern...
Ataxia Telangiectasia Ataxia telangiectasia (A-T) is a Progressive  Degenerative disease involving many major  body Syste...
Characterised    by telangiectasia of Conjunctiva,    nose, ears and skin creases.About 70% of children with A-T also ha...
 Currently, there is no cure for A-T and no  way To stop its progression. But treatment  can help Kids manage symptoms. ...
linear Nevus Syndrome This sporadic condition is characterized by  a Facial nevus and neurodevelopmental  Abnormalities....
 84%-Face             50%-Scalp, Neck and face             Scalp lesions devoid of hair                Seizures in 75%...
Hypomelanosis of Ito.5/30/2012           JLNH & RC                                    62
 Mosaicism-Family history is rare Neurological Association      ›     Mental retardation (70%)      ›     Seizures (40%)...
Incontinentia Pigmenti This heritable, multisystem ectodermal  disorder features dermatologic, dental, and  ocular abnorm...
Stage I                   • Erythematous linear                       streaks and plaques                       of vescicl...
Stage II                    • Verrucous plaques                    • Dry and                      hyperkeratotic          ...
Stage III                     Hyperpigmentation                     Hallmark                     Macular whorls, linear...
Stage IV                    •     Hypopigmented                    •     Hairless                    •     Anhydrotic     ...
Other ManifestationsCNS (33%)                    Dental(80%)                                   ›   Late dentition   › Mo...
THANK YOU5/30/2012      JLNH & RC   70
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  1. 1. NEUROCUTANEOUS SYNDROME DR. PANKAJ BAJAJ 1ST YEAR DNB PEDIATRIC J.L.N.Hospital & Research Centre, Bhilai Steel Plant5/30/2012 JLNH & RC 1
  2. 2. TOPICS TO BE COVERED………. DEFINITION CLASSIFICATION DETAILS OF EACH NEURO CUTANEOUS SYNDROME5/30/2012 JLNH & RC 2
  3. 3. DEFINITION The neurocutaneous syndromes include a Heterogeneous group of disorders Characterized by abnormalities of both the Integument and central nervous system (CNS). Most disorders are familial and believed to Arise from a defect in differentiation of the Primitive ectoderm.5/30/2012 JLNH & RC 3
  4. 4. CLASSIFICATION Disorders classified as neurocutaneous syndromes Include Neurofibromatosis Tuberous Sclerosis Sturge-Weber Syndrome Von Hippel–Lindau Disease PHACE Syndrome Ataxia Telangiectasia linear Nevus Syndrome Hypomelanosis of Ito NST LP Incontinentia Pigmenti HINT 5/30/2012 JLNH & RC 4
  5. 5. NEUROFIBROMATOSIS Neurofibromatosis are autosomal dominant Disorders that cause tumors to grow on Nerves and result in other abnormalities such As skin changes and bone deformities Neurofibromatosis 1 (NF-1) Neurofibromatosis 2 (NF-2)5/30/2012 JLNH & RC 5
  6. 6. NEUROFIBROMATOSIS 1 (NF-1) Most prevalent type Incidence of 1/3,000 Autosomal dominant disorder Over half the cases are sporadic,representing De novo mutations. Chromosome region 17q11.2 Encodes a protein also known as Neurofibromin.5/30/2012 JLNH & RC 6
  7. 7.  It is diagnosed when any 2 of the following 7 features Are present: (1) Six or more Cafe-au-lait macules (2) Axillary or inguinal freckling . (3) Two or more iris Lisch nodules (4) Two or more neurofibromas or 1 plexiform neurofibroma. (5) A distinctive osseous lesion such as Sphenoid dysplasia. (6) Optic gliomas low-grade astrocytomas. (7) A first-degree relative with NF-1.5/30/2012 JLNH & RC 7
  8. 8. Cafe-au-lait macules• Over 5 mm in greatest diameter in prepubertal individuals.• Over 15 mm in greatest diameter in postpubertal individuals.• Hallmark of neurofibromatosis almost 100% of patients.• Present at birth but increase in size, number, and pigmentation, especially duringThe first few yrs of life. 5/30/2012 JLNH & RC 8• Predilection for the trunk and extremities but sparing the face.
  9. 9. Axillary or inguinal freckling• Multiple hyperpigmented areas 2-3 mm in diameter.• Skinfold freckling usually appears between 3 and 5 yr of age.• Frequency greater than 80% by 6 yr of age. 5/30/2012 JLNH & RC 9
  10. 10. Two or more iris Lisch nodules• Hamartomas.• located within the iris .• Best identified by a slit-lamp examination.• They are present in >74% of patients with NF-1 but are not a component of NF-2.• The prevalence increases with age.• Only 5% of children <3 yr of age.• 42% among children 3-4 yr of age. JLNH & RC 5/30/2012 10• 100% of adults ≥21 yr of age.
  11. 11. Two or more neurofibromas or 1 plexiform neurofibroma• SITES involve the skin, peripheral nerves and blood vessels, viscera .• Hormonal influence.• They are usually small, rubbery lesions with a slight purplish discoloration of theoverlying skin.• Plexiform neurofibromas are usually evident at birth and result from diffusethickening of nerve trunks that are frequently located in the orbital or temporal regionof the face.• The skin overlying a plexiform neurofibroma may be hyperpigmented to a greaterdegree than a Cafe-au-lait spot.• Plexiform neurofibromas may produce overgrowth of an extremity and a deformity ofthe 5/30/2012 corresponding bone. JLNH & RC 11
  12. 12. Distinctive Osseous lesion Sphenoid Dysplasia5/30/2012 JLNH & RC 12
  13. 13. • Scoliosis is Most Common Orthopedic manifestation- Not specific for diagnostic criterion • Cortical thining of long bones with or without pseudoarthrosis.5/30/2012 JLNH & RC 13
  14. 14. Optic Gliomas represent mostly low-grade Astrocytomas• it is recommended that all children age 10 yr or younger with NF-1 undergo annualophthalmologic examinations.•When they enlarge and put pressure on the optic nerves and chiasm resulting inimpaired visual acuity and visual fields.• Extension into the hypothalamus can lead to endocrine deficiencies or failure to thrive. 5/30/2012 JLNH & RC 14
  15. 15. •The MRI findings of an optic glioma include diffuse thickening, localized enlargement, or a distinct focal mass originating from the optic nerve or chiasm 5/30/2012 JLNH & RC 15
  16. 16. •A first-degree relative with NF-1 whose diagnosis was based on the aforementioned criteria. 5/30/2012 JLNH & RC 16
  17. 17. Complications Seizures Hydrocephalus learning disabilities, ADHD, Speech disorder Macrocephaly Moya-moya Disease Precocious puberty Hypertension.  Fibromuscular dysplasia  Pheochromocytoma Malignancy › Neurofibrosarcoma › Malignant Schwanoma 5/30/2012 JLNH & RC 17
  18. 18. NEUROFIBROMATOSIS 2 (NF-2) Rarer condition Incidence of 1/25,000 The NF2 gene (also known as merlin or Schwannomin) located on chromosome 22q1.11 Cafe-au-lait spots and skin neurofibromas are less common in NF-2 Posterior subcapsular lens opacities are identified In about 50% of patients with NF-25/30/2012 JLNH & RC 18
  19. 19.  May be diagnosed when 1 of the following 4 Features is present: (1) bilateral vestibular schwannomas (2) a parent, sibling, or child with NF-2 and Either unilateral vestibular schwannoma or Any 2 of the following: meningioma, Schwannoma, glioma, neurofi broma, or Posterior subcapsular lenticular opacities.5/30/2012 JLNH & RC 19
  20. 20.  (3) unilateral vestibular schwannoma and any 2 of the following: meningioma, schwannoma, Glioma, neurofi broma, or posterior Subcapsular lenticular opacities. (4) multiple meningiomas (2 or more) and Unilateral vestibular schwannoma or any 2 of The following: schwannoma, glioma, Neurofibroma or5/30/2012 JLNH & RC 20
  21. 21. Bilateral Acoustic Neuromas •Hearing loss •Unsteadiness •Headache •Facial weakness •More commonly in 2nd and 3rd decade. Subcapsular opacity- 50% of the cases of NF- II5/30/2012 JLNH & RC 21
  22. 22. • Ependymomas –most (80%)in spinal cord. • Spinal Schwannomas (70%) intradural extramedullary.5/30/2012 JLNH & RC 22
  23. 23. Treatment and Management of NF-I and NF-II• Genetic counseling • Tests should be• Half result from ordered if positive fresh Mutation physical findings are• Prenatal diagnosis in present familial cases. • Annual evaluation – By pediatrician – By pediatric ophthalmologist 5/30/2012 JLNH & RC 23
  24. 24. Tuberous Sclerosis TSC is an extremely heterogeneous disease With a wide clinical spectrum varying from Severe mental retardation and incapacitating Seizures to normal intelligence and a lack of Seizures, often within the same family. The Disease affects many organ systems other Than the skin and brain, including the heart, Kidney, eyes, lungs, and bone.5/30/2012 JLNH & RC 24
  25. 25.  Autosomal dominant trait with variable Expression. Prevalence of 1/6,000 newborns. Spontaneous genetic mutations occur in 2/3 of the Cases. Molecular genetic studies have identified 2 foci For TSC GENE LOCATION ENCODES TSC1 gene Chromosome9q34 Protein called hamartin TSC2 gene Chromosome16p13 the protein tuberin 5/30/2012 JLNH & RC 25
  26. 26.  The TSC1 and TSC2 genes are tumor suppressor Genes. Both are involved in a key pathway in the cell that Regulates protein synthesis and cell size. The loss Of either tuberin or hamartin results in the Formation of numerous benign tumors (Hamartomas) Definite TSC is diagnosed when at least 2 major Or 1 major plus 2 minor features are present5/30/2012 JLNH & RC 26
  27. 27.  MAJOR FEATURES OF TUBEROUS SCLEROSIS COMPLEX Cortical tuber Subependymal nodule Subependymal giant cell astrocytoma Facial angiofibroma or forehead plaque Ungual or periungual fibroma (nontraumatic) Hypomelanotic macules (>3) Shagreen patch Multiple retinal hamartomas Cardiac rhabdomyoma Renal angiomyolipoma Pulmonary lymphangioleiomyomatosis5/30/2012 JLNH & RC 27
  28. 28.  MINOR FEATURES OF TUBEROUS SCLEROSIS COMPLEX Cerebral white matter migration lines Multiple dental pits Gingival fibromas Bone cysts Retinal achromatic patch Confetti skin lesions Nonrenal hamartomas Multiple renal cysts Hamartomatous rectal polyps5/30/2012 JLNH & RC 28
  29. 29. Ash leaf skin lesions at least 3 hypomelanotic macules must be present • Hypopigmented in 90% of patients • Enhanced by wood’s lamp examination • At least 3 hypomelanotic macules must5/30/2012 JLNH & RC be present 29
  30. 30. Retinal lesions • Mulberry Tumors • Retina Nerve fiber and undifferentiated glial tissue • 1/3 to ½ patients • Can also be found in Neurofibromatosis and Normal persons.5/30/2012 JLNH & RC 30
  31. 31. Tuberous Sclerosis Sebaceous adenomas –Facial Angiofibroma– 8-10 . by adolescence fully developed Forehead Plaque.5/30/2012 JLNH & RC 31
  32. 32. Shagreen patch • Roughened, raised lesion with an Orange-peel consistency located Primarily in the lumbosacral region5/30/2012 JLNH & RC http://www.massgeneral.org/livingwithtsc/affects/skin.htm 32
  33. 33. Ungual or periungual fibroma5/30/2012 JLNH & RC 33
  34. 34. Confetti skin lesions5/30/2012 JLNH & RC 34
  35. 35. Characteristic Tubers• -Candle Dripping appearance.• -subependymal/decreased neurons/proliferation of astrocytes.• 5/30/2012 -calcification/obstruction------emedicine JLNH & RC 35
  36. 36. Cardiac Rhabdomyoma.5/30/2012 JLNH & RC 36
  37. 37. Infantile Spasm Hypsarrhythmias5/30/2012 JLNH & RC 37
  38. 38. Treatment• Renal Ultrasound • Seizure control-• Echo ACTH for infantile• CT/MRI brain spasm • Symptomatic tumor treatment. • Cosmetic treatments • For treatment of SEGAs- everolimus 5/30/2012 JLNH & RC subependymal giant cell astrocytomas 38
  39. 39. kidneys angiomyolipomas The current recommendation is to follow Them by yearly imaging, and when the lesion Becomes larger than 4 cm, to use Transcatheter Tumor embolization for treatment5/30/2012 JLNH & RC 39
  40. 40. ROUTINE FOLLOW-UP Physical examination: Brain MRI every 1-3 yr, Renal imaging (ultrasound, CT, or MRI) every 1-3 yr Neurodevelopmental testing at the time of Beginning 1st grade.5/30/2012 JLNH & RC 40
  41. 41. Sturge-Weber Syndrome Sturge-Weber syndrome (SWS) is a sporadic Vascular disorder and consists of a Constellation of symptoms and signs including A facial capillary malformation (port-wine Stain), abnormal blood vessels of the brain (leptomeningeal angioma), and abnormal Blood vessels of the eye leading to glaucoma.5/30/2012 JLNH & RC 41
  42. 42.  1 per 50,000 live births have SWS. Etiology remains unclear. ??Anomalous development of the embryonic vascular bed in the early stages of facial and cerebral development.5/30/2012 JLNH & RC 42
  43. 43. Clinical Manifestations The facial port-wine stain. Overall incidence be 8-33% The capillary malformation. Buphthalmos and glaucoma Transient strokelike episodes or visual defects Result From thrombosis of cortical veins. Mental retardation or severe learning5/30/2012 JLNH & RC 43 Disabilities 50% In later childhood.
  44. 44. Unilateral, and always involves the upper face And eyelid, in a distribution consistent with the Ophthalmic division of the trigeminal nerve. Port Wine Stain5/30/2012 facial nevus JLNH & RC 44
  45. 45. Buphthalmos5/30/2012 JLNH & RC 45
  46. 46.  Epilepsy 75-90%,1st yr of life. Focal tonic-clonic and Contralateral to the side Of the facial capillary Malformation. Refractory to anticonvulsants associated With A slowly progressive hemiparesis .5/30/2012 JLNH & RC 46
  47. 47. Diagnosis Based on the involvement of the brain and the Face, there are 3 types according to the Roach Scale: 1 Type I: Both facial and leptomeningeal Angiomas; may have glaucoma 2 Type II: Facial angioma alone (no CNS Involvement); may have glaucoma 3 Type III: Isolated leptomeningeal angiomas; Usually no glaucoma5/30/2012 JLNH & RC 47
  48. 48. Rail-Road Track Calcification • Gyriform Pattern of the Cortical5/30/2012 JLNH & RC Calcification. 48
  49. 49. Unilateral cortical atrophy5/30/2012 JLNH & RC 49
  50. 50. Treatment Symptomatic and multidisciplinary. It is aimed at Controlling seizures Treating headaches Preventing strokelike episodes Monitoring for Glaucoma5/30/2012 JLNH & RC 50
  51. 51.  laser therapy for the cutaneous capillary Malformations. If the seizures are refractory to anticonvulsant therapy Than consider hemispherectomy. Regular measurement of intraocular pressure. Pulsed dye laser therapy for port-wine stain, ParticularlyJLNH & RC is located on the5/30/2012 if it 51
  52. 52. Von Hippel–Lindau Disease Von Hippel–Lindau (VHL) disease affects many Organs, including the cerebellum, spinal cord, Retina, kidney, pancreas, and epididymis. Incidence is around 1 : 36,000. Autosomal dominant mutation affecting a Tumor suppressor gene, VHL. Chromosome 3q25. & RC5/30/2012 JLNH 52
  53. 53.  Include cerebellar hemangioblastomas and Retinal angiomas. Cystic lesions of the kidneys, pancreas, liver, And epididymis as well as pheochromocytoma Are frequently associated. Renal carcinoma is the most common cause of Death.5/30/2012 JLNH & RC 53
  54. 54. Cerebellar Hemangioblastoma  Raised Intra Cranial Pressure  Cystic cerebellar lesion with a vascular mural nodule- erythropoietin like protein.  Spinal Cord- abnormalities of proprioception, disturba nces of bladder control and gait impairement.http://www.cc.nih.gov/ccc/papers/vonhip/cnshemangioblastomas.html 5/30/2012 JLNH & RC 54
  55. 55. Retinal Angioma  Peripheral-Initially vision is unaffected  Grow, bleed, leave serous fluid-retinal detachment  Small-Laser photocoagulation  Large-Freezing probe from outside the globe.  25% of retinal angioma patients will have extraocular manifestation  60% with nonocular manifestations will have Retinal Angioma.http://www.kellogg.umich.edu/theeyeshaveit/congenital/retinal-angioma.html 5/30/2012 JLNH & RC
  56. 56. PHACE/S SyndromePosterior fossa malformationsHemangiomasArterial anomaliesCoaractation of the aortaEye abnormalities+Sternal clefting and/or a supraumbilical raphe5/30/2012 JLNH & RC 56
  57. 57. Ataxia Telangiectasia Ataxia telangiectasia (A-T) is a Progressive Degenerative disease involving many major body Systems. It is an autosomal recessive disease. A-T is usually noticed in the second year of life as a Child develops problems with balance and Slurred Speech caused by ataxia (lack of muscle control). The ataxia occurs because the cerebellum, the part of The brain that controls muscle movement, is Degenerating.5/30/2012 JLNH & RC 57
  58. 58. Characterised by telangiectasia of Conjunctiva, nose, ears and skin creases.About 70% of children with A-T also have Immune system problems that make Them more susceptible to chronic URTI, lung infections, and certain cancers, such As leukaemia5/30/2012 JLNH & RC 58
  59. 59.  Currently, there is no cure for A-T and no way To stop its progression. But treatment can help Kids manage symptoms. Physical therapy and occupational therapy may Help maintain flexibility. Speech therapy can help address slurring and Other speech problems.5/30/2012 JLNH & RC 59
  60. 60. linear Nevus Syndrome This sporadic condition is characterized by a Facial nevus and neurodevelopmental Abnormalities. The nevus is located on the forehead and nose And tends to be midline in its distribution.5/30/2012 JLNH & RC 60
  61. 61.  84%-Face  50%-Scalp, Neck and face  Scalp lesions devoid of hair  Seizures in 75% › Infantile spasm › Generalized Tonic › Tonic Clonic  Neurological Deficits › Cranial Nerve palsies VI, VII › Cortical Blindness › Hemiparesis (hemimegalencephaly)  Mental Retardation-in young children upto70%5/30/2012 JLNH & RC 61
  62. 62. Hypomelanosis of Ito.5/30/2012 JLNH & RC 62
  63. 63.  Mosaicism-Family history is rare Neurological Association › Mental retardation (70%) › Seizures (40%) › Microcephaly(25%) › Developmental delay › Deafness › Visual problems › Headache › Tooth or mouth problems5/30/2012 JLNH & RC 63
  64. 64. Incontinentia Pigmenti This heritable, multisystem ectodermal disorder features dermatologic, dental, and ocular abnormalities Functional mosaicism Random X-inactivation of an X-linked dominant Gene (IKK-gamma/NEMO gene) Lethal in Males Xq28 Increased Frequency of spontaneous abortions.5/30/2012 JLNH & RC 64
  65. 65. Stage I • Erythematous linear streaks and plaques of vescicles • DD-Herpes, bullous impetigo, mastocytos is • eosinophilic spogiosis5/30/2012 • Resolve by 4 mo JLNH & RC 65
  66. 66. Stage II • Verrucous plaques • Dry and hyperkeratotic • Involute in 6 months5/30/2012 JLNH & RC 66
  67. 67. Stage III  Hyperpigmentation  Hallmark  Macular whorls, linear streaks  Lines of Blaschko.  Sites are not necessorily same.  Invariably affects axilla and groin  Fade by Early adoleacence.5/30/2012 JLNH & RC 67
  68. 68. Stage IV • Hypopigmented • Hairless • Anhydrotic • Usually lower legs.5/30/2012 JLNH & RC 68
  69. 69. Other ManifestationsCNS (33%)  Dental(80%) › Late dentition › Motor and cognitive › Hypodontia developmental › Conical teeth retardation › Impaction › Seizures  Ocular(30%) › Neovascularization › Microcephaly › Microphthalmos › Spasticity › Strabismus › Optic Nerve atrophy › paralysis › Cataracts › Retrolenticular masses.5/30/2012 JLNH & RC 69
  70. 70. THANK YOU5/30/2012 JLNH & RC 70

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