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Dermatology
Neurofibromatosis and Tuberous Sclerosis Complex
Built from Dermatology, 5th Edition
What’s inside
6 sections · 165 slides
Neurocutaneous Disorders: Overview
Phakomatoses, autosomal dominant inheritance, and the dermatologist's role in diagnosis
- What is a phakomatosis?
- Classifying neurofibromatosis
Neurofibromatosis Type 1
Also called von Recklinghausen disease
- Neurofibromatosis type 1: key features
- History of neurofibromatosis type 1
- Epidemiology of neurofibromatosis type 1
- The NF1 gene and neurofibromin
- Genotype-phenotype patterns in NF1
- The tumor microenvironment and neurofibroma formation
- Mechanism: how neurofibromin loss drives growth
- Clinical features of NF1: overview
- Major clinical features of neurofibromatosis type 1
- Major clinical features of neurofibromatosis type 1 (continued)
- Major clinical features of neurofibromatosis type 1 (continued)
- Major clinical features of neurofibromatosis type 1 (continued)
- Major clinical features of neurofibromatosis type 1 (continued)
- Cafe-au-lait macules
- Cafe-au-lait macules and freckling
- Neurofibromas: the tumor that names the disease
- Multiple cutaneous neurofibromas
- Less common cutaneous neurofibroma patterns
- Neurofibroma subtypes at a glance
- Subcutaneous neurofibromas
- Plexiform neurofibromas
- Natural history of plexiform neurofibromas
- Malignant transformation of plexiform neurofibromas
- Juvenile xanthogranuloma and leukemia risk
- Vascular findings: nevus anemicus and glomus tumors
- Lisch nodules of the iris
- Choroidal abnormalities
- Mosaic (segmental) neurofibromatosis type 1
- Optic pathway gliomas
- Other CNS tumors and brain MRI findings
- Learning, behavior, and seizures
- Skeletal manifestations of NF1
- Cardiovascular manifestations of NF1
- Timeline of clinical features developing in NF1
- Why the order of findings matters
- Pathology of NF1 skin lesions
- Pathology of malignant peripheral nerve sheath tumor
- Diagnosing NF1: classic and revised criteria
- Revised diagnostic criteria for NF1 and mosaic NF1
- Revised diagnostic criteria for NF1 and mosaic NF1 (continued)
- Approach to a child with 6 or more cafe-au-lait macules
- How reliable are cafe-au-lait macules alone?
- Molecular testing for NF1
- Segmental look-alikes of mosaic NF1
- Legius syndrome
- Other entities in the differential diagnosis
- Disorders associated with multiple cafe-au-lait macules
- Disorders associated with multiple cafe-au-lait macules (continued)
- Disorders associated with multiple cafe-au-lait macules (continued)
- Disorders associated with multiple cafe-au-lait macules (continued)
- Disorders associated with multiple cafe-au-lait macules (continued)
- Disorders associated with multiple cafe-au-lait macules (continued)
- Disorders associated with multiple cafe-au-lait macules (continued)
- Disorders associated with multiple cafe-au-lait macules (continued)
- Disorders associated with multiple cafe-au-lait macules (continued)
- Neurofibromatosis type 2: how it differs from NF1
- Key features of neurofibromatosis type 2
- McCune-Albright syndrome
- Plexiform neurofibroma vs congenital melanocytic nevus
- Managing NF1: the general approach
- Evaluation and management of patients with NF1
- Evaluation and management of patients with NF1 (continued)
- Treating the skin lesions of NF1
- Watching for malignant transformation
- Targeted drug therapy for NF1 tumors
- NF1 patient resources
- 02b
- Axillary lentigines and cafe-au-lait macule
- Multiple lentigines, cafe-au-lait macules, and neurofibromas
- Large cafe-au-lait macule with neurofibromas and Crowe sign
- Multiple neurofibromas with lentigines
- Neurofibromas of the areola
- Plexiform neurofibromas: sagging bag-like plaques
- Plexiform neurofibroma with 'bag of worms' texture
- Plexiform neurofibroma misdiagnosed as a birthmark
- Plexiform neurofibroma presenting as a hyperpigmented plaque
- Plexiform neurofibroma in a child
Tuberous Sclerosis Complex
Also known as Bourneville-Pringle disease or 'epiloia'
- Tuberous sclerosis complex: key features
- The two TSC genes
- History of tuberous sclerosis complex
- Epidemiology of tuberous sclerosis complex
- The TSC genes and their protein products
- Mechanism: how TSC gene loss drives hamartomas
- Which gene, which severity?
- Clinical features of TSC: overview
- Major clinical features of tuberous sclerosis complex
- Major clinical features of tuberous sclerosis complex (continued)
- Hypomelanotic macules
- Confetti (guttate) macules
- Cafe-au-lait macules in TSC
- Facial angiofibromas
- Fibrous cephalic plaque
- Shagreen patch (collagenoma)
- Ungual fibromas
- Molluscum pendulum and oral findings
- Retinal hamartomas
- Order in which cutaneous features of TSC appear
- Infantile spasms
- Intellectual and behavioral effects (TAND)
- Subependymal nodules and SEGA
- Cortical dysplasia and tubers
- Cardiovascular manifestations of TSC
- Renal manifestations of TSC
- Pulmonary and other manifestations
- Where each TSC organ system is affected
- Pathology of TSC skin lesions
- Pathology of the shagreen patch
- Diagnosing tuberous sclerosis complex
- Diagnostic criteria for tuberous sclerosis complex
- Approach to an infant with 3 or more hypomelanotic macules
- Genetic testing yield in TSC
- Other syndromes that mimic TSC skin findings
- Hypopigmented and shagreen-patch look-alikes
- Managing tuberous sclerosis complex
- Evaluation and management of tuberous sclerosis patients
- Evaluation and management of tuberous sclerosis patients (continued)
- mTOR inhibitors: a shared systemic therapy
- Sun protection and topical therapy for angiofibromas
- Evidence for topical sirolimus
- TSC patient resources
- 03b
- Ash leaf macules
- Confetti and polygonal hypomelanotic macules
- Facial angiofibromas and fibrous plaque
- Facial angiofibromas in an adult
- Fibrous plaque of the forehead
- Large fibrous cephalic plaque
- Shagreen patch with an ash leaf macule
- Shagreen patch
- Collagenoma with a leather-like surface
- Multiple ungual fibromas
- Longitudinal red streaks ('red comets')
- Ungual fibromas of the toes
- Shagreen patch histology stains
- Calcified subependymal nodules on cranial CT
Riccardi's Historical Classification
How the seven original NF subtypes map onto today's understanding
- Why Riccardi's scheme still matters
- Riccardi's classification of neurofibromatosis
Summary
NF1 and TSC side by side
- NF1 vs TSC: cutaneous hallmark features
- NF1 vs TSC: shared disease logic
- Key takeaways
References
Source citations from this chapter
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- Dermatology, 5th Edition (2-Volume Set)