1. PHAKOMATOSES
Dr / Hytham Nafady

2. Definition
Definition
Phakos, oma, osis.
Van der Hoeve in 1921
Neuro-cutaneous
syndromes.
Exception
Sturge Weber syndrome
(no neoplastic component)
Von Hippel Lindau disease
(no cutaneous manifestation)
Yakovlev and Guthrie in 1931
Dysplasia & / or
TS & NF
neoplasms of tissues of (have endodermal &
ectodermal origin
mesodermal lesions).
Yakovlev and Guthrie in 1931

3. COMMON
1.
2.
3.
4.
5.
NF1
NF2
Tuberous sclerosis
Sturge-Weber Syndrome
Von Hipple Lindau disease
UNCOMMON
1.
2.
3.
4.
5.
6.
Proteus syndrome,
Osler-Weber-Rendu
disease,
Klipple trenaunay.
Ataxia telangiectasia,
Meningio-angiomatosis,
Incontentia pigmenti.

4. Tuberous sclerosis
Etiology:
• 50 % autosomal dominant inheritence.
• 50 % spontaneous mutation.
• Defects in chromosomes 9 & 11.

5. Tuberous sclerosis
C.P
Tuberous sclerosis
Seizures
Adenoma
sebaceum
Mental retardation

6. Zits
Fits
Nitwits

12. Cutaneous lesions of
tuberous sclerosis
• Adenoma sebaceum.

13. Cutaneous lesions of
tuberous sclerosis
• Adenoma sebaceum.
• Ash leaf spots.

14. Cutaneous lesions of
tuberous sclerosis
• Adenoma sebaceum.
• Ash leaf spots.
• Shagreen patch.

15. Cutaneous lesions of
tuberous sclerosis
•
•
•
•
Adenoma sebaceum.
Ash leaf spots.
Shagreen patch.
Confetti lesions.

16. Cutaneous lesions of
tuberous sclerosis
•
•
•
•
•
Adenoma sebaceum.
Ash leaf spots.
Shagreen patch.
Confetti lesions.
Periangual fibromas

17. Adenoma sebaceum
Facial angiofibromas
• Small erythematous papules

18. Ash leaf spots
• Hypo-pigmentd macule
‫الدردار‬

19. Shagreen patch

20. Confetti lesions

21. Periangual fibroma

22. CNS lesions of tuberous sclerosis
• Cortical tubers.

23. CNS lesions of tuberous sclerosis
• Cortical tubers.
• White matte lesions.

24. CNS lesions of tuberous sclerosis
• Cortical tubers.
• White matte lesions.
• Subependymal nodules.

25. CNS lesions of tuberous sclerosis
•
•
•
•
Cortical tubers.
White matte lesions.
Subependymal nodules.
SGCA.

26. Subependymal nodules
Location:
• Caudothalamic groove of
lateral ventricle.

27. Subependymal nodules
Location:
• Caudothalamic groove of
lateral ventricle.

28. Subependymal nodules
Location:
• Caudothalamic groove of
lateral ventricle.

29. Subependymal nodules
Location:
• Caudothalamic groove of
lateral ventricle.
What are the lesions that involve caudothalamic groove?

30. Subependymal nodules
Location:
• Caudothalamic groove of
lateral ventricle
• atrium.
• Temporal horn
• Occipital horn.
• (very rare in 3rd of 4th
ventricle).
• 88% calcified.
• Enhancement is variable

31. Subependymal nodules
Location:
• Caudothalamic groove of
lateral ventricle
• atrium.
• Temporal horn
• Occipital horn.
• (very rare in 3rd of 4th
ventricle).
• 88% calcified.
• Enhancement is variable

32. Subependymal nodules
Location:
• Caudothalamic groove of
lateral ventricle
• atrium.
• Temporal horn
• Occipital horn.
• (very rare in 3rd of 4th
ventricle).
• 88% calcified.
• Enhancement is variable

33. Cortical tubers
Location:
• Frontal
• Parietal.
• Temporal.
• Cerebellar.
5% may enhance.
50% become
calcified by the
age of 10 years.

34. White matter lesions
Location:
• Along lines of
neuronal migration

35. SGCA
• Enlarging enhancing nodule at the
foramen of Monro.

36. SGCA
• Enlarging enhancing nodule at the
foramen of Monro.

40. DD of tuberous sclerosis
DD of
subependymal
nodules
Non clacified
Subependymal heterotopia
Calcified
TORCH
DD of cortical tubers
Focal cortical dysplasia
DD of SGCA
Foramen of Monro masses

41. DD of subpendymal nodules
Subependymal nodules
Subependymal hetertopia
Rounded or oval with their Oval with their long axis
long axis perpendicular the parallel to the ventricular
ventricular wall.
wall.
Variable.
Iso-intense to grey matter
on all pulse sequences
May be calcified.
May be enhancing.
Never calcified.
No enhancement

42. Subependymal
nodules
Subependymal
heterotopia

43. CMV
TS

44. CMV
TS

45. ?

46. ?

47. ?

48. ?

49. ?

50. ?

51. ?

52. ?

53. Subependymal heterotopia

54. DD of cortical tubers
• Focal cortical dysplasia (Taylor dysplasia)

55. DD of cortical tubers
• Focal cortical dysplasia (Taylor dysplasia)

56. DD of cortical tubers
• Focal cortical dysplasia (Taylor dysplasia)

57. DD of cortical tubers
• Focal cortical dysplasia (Taylor dysplasia)

58. DD of cortical tubers
• Focal cortical dysplasia (Taylor dysplasia)

59. DD of cortical tubers
• Focal cortical dysplasia (Taylor dysplasia)

60. DD of cortical tubers
• Focal cortical dysplasia (Taylor dysplasia)

61. DD of SGCA

62. Renal angiomyolipoma

63. AML

64. Ruptured renal AML

65. Ruptured renal AML

66. Retroperitoneal LAM

67. Intestinal polyposis
AML

69. Pulmonary
Lymphangioleiomyomatosis (LAM)

72. Retroperitoneal hemorrhage

73. Cardiac rhabdomyomas
• Multiple hyperechoic masses

74. Multiple sclerotic lesoins

75. Neurofibromatosis
Autosomal dominant
NF1..Ch 17, NF 2…..Ch 22
NF 1 presents in children & NF2 at a later
age.
NF1 (peripheral NF) NF2 (central NF)

76. Nerve sheath tumors

80. Schwannoma
Neurofibroma

81. Resection of Schwannoma

82. Biopsy of plexiform neurofibroma of
peripheral nerve for suspecion of
malignant transformation

83. Signs of nerve sheath tumor
•
•
•
•
•
•
Fusiform.
Entering & exiting nerve.
Split fat sign.
Target sign.
Fascicular sign
Associated muscle atrophy.

84. Neurofibroma

85. Schwannoma

87. NF
Types of neurofibroma
• Localized (involve a short segment).
• Plexiform (involve a long segment & its
branches).
• Diffuse (infiltrate subcutaneous fat).
• A short segment means (a nerve can be traced
entering & exiting from the mass).
• A long segment means ( a nerve can not be
traced entering or exiting from the mass).

88. Diffuse
neurofibroma

89. Teenage female with NF1 &
enlarging pigmented skin lesions

90. Plexiform
neurofibroma

91. Localized neurofibroma

92. MPNST
•
•
•
•
Unexplained pain.
Unexpected growth.
Irregular borders.
Heterogeneous signal

100. NF1
•
•
•
•
Von Recklinghausen disease
This is the most common phakomatosis.
50% autosomal dominant inheritence.
50% new mutation

106. Diagnostic criteria of NF1
Two of the following must be present to diagnose as NF1:
• 6 or more cafe-au-lait macules .
• 2 or more neurofibromas of any type or 1 plexiform
neurofibroma,
• freckling in the axillary or inguinal regions
• optic glioma,
• 2 or more Lisch nodules,
• distinctive bony lesion (i.e. sphenoid dysplasia, thinning of
long bone cortex with or without pseudoarthrosis),
• a first degree relative diagnosed with NF1.

107. Cutaneuos manifestations of NF
•
•
•
•
•
Café au lait spots.
Lisch nodules.
Plexiform neurofibromas.
Axillary freckling.
Molloscum fibrosum.

108. Café au lait spots

109. Lisch nodules
• Melanocytic hamartoma of the iris.

110. Plexiform neurofibroma

111. Axillary freckling

112. Molluscum fibrosum

113. Neurological NF1
• Hamartomas.
• Gliomas:
–
–
–
–
Optic glioma.
Pilocytic astrocytoma.
Diffuse brain stem glioma.
Spinal astrocytoma
• Dural calcification at vertex
• Dural ectasia
• Buphthalmos.

114. Hamartomas

115. Optic pathway glioma

116. Optic pathway glioma

117. Diffuse brain stem glioma

118. Pilocytic astrocytoma

119. NF1
Hamartoma vs glioma

120. Chest
• Mediastinal masses:
– Neurofibroma.
– Lateral thoracic meningocele :
typically on convex side of scoliosis (through
widened neural formina)
– extra adrenal pheochromcytoma.
• Lung parenchymal disease : ~ 20%
– Diffuse interstitial fibrosis: lower zone
– Bullae formation : upper zone

121. Lateral thoracic meningocele

122. Lateral thoracic meningocele

123. Vascular
•
•
•
•
Moya Moya phenomenon.
Aneurysms / AVMs
Renal artery stenosis.
Coarctation of the aorta.

124. Skeletal NF1
•
•
•
•
•
•
•
•
•
•
Sphenoid wing dysplasia
Lambdoid suture defects.
Enlarged neural foramina.
Kyphoscoliosis.
Posterior vertebral scalloping.
Hypoplastic posterior elements
Ribbon rib deformity.
Rib notching.
Tibial or ulnar pseudoarthrosis
Limb hemihypertrophy.

125. Sphenoid wing dysplasia

132. Bare orbit sign

133. Bare orbit sign

134. Bare orbit sign

138. Lambdoid suture defect

139. Vertebral scalloping

140. Dural ectasia & posterior
vertebral scalloping

141. DD of posterior
vertebral scalloping

142. Posterior vertebral scalloping
due to small spinal canal
Posterior vertebral scalloping
due to dural ectasia

143. Ribbon ribs

144. Tibial pseudoarthrosis
• Anterior bowing of the tibia with:
1.Preserved medullary canal.
2.Thinned medullary canal & cortical
thickening.
3.Intramedullary cyst.
4.Frank pseudoarthrosis.

146. NF2
• Intracranial Schwannomas.
• Intracranial & spinal meningiomas.
• Spinal intramedullary ependymomas.

147. Diagnostic Criteria for NF-2
• Definite NF2
Bilateral vestibular schwannomas (VS)
• Probable NF2:
Family history of NF2 (first degree family relative) +
Unilateral VS or any two of the following:
– Meningioma,
– Glioma,
– Schwannoma,
– Juvenile posterior subcapsular lenticular opacity,
– Juvenile cortical cataract

148. NF 2
Bilateral vestibular Schwannoma
Multiple Meningiomas

149. Right CP angle
meningioma
Left CP angle
schwannoma

158. CP angle
Meningioma
CP angle
Schwannoma
Intra-canalicular extension, with
widening of the internal auditory
.canal
Wide dural base
Centered upon the porus
.acousticus
Obtuse angle along the
anterior & posterior borders
Acute angle along the anterior &
posterior borders
.Dural tail enhancement
Hyperostosis
.Microhemorrhage on T2* Wis

159. NF2

160. Sturge Weber syndrome
encephalotrigeminal angiomatosis
• Congenital non hereditary disorder.
• Failure of normal development of fetal cortical
veins.

161. Port wine stain (Portuguese wine)

162. Sturge Weber syndrome

164. Von Hippel Lindau disease
• Autosomal dominant inheritence 80%.
• New mutation 20%.
• Defect in chromosome 3.

166. Von Hipple Lindau disease

167. Von Hipple Lindau disease

168. • ~ 45% of those with vHL develop
haemangioblastomas
• ~ 20% of those with haemangioblastoma
have vHL

178. Hemangioblastoma
Age: young adults
Tumor nodule: show
vascular flow voids
Pilocytic astrocytoma
Age: children
Tumor nodule: lack
vascular flow voids
Tumor nodule abuts
Tumor nodule often
the pial or ependymal doesn’t abut pial or
surface
ependymal surface.

186. Endolymphatic sac

195. Thank You for your attention
hytham_nafady@hotmail.com