Genodermatosis ppt based on Rook and fitzpatrick

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mkdir -p /home/daytona/workspace/genodermatosis-ppt && ls /home/daytona/workspac…

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~/genodermatosis-ppt/genodermatosis.js

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// ════════════════════════════════════════════════════════════
//  SLIDE BUILDING
// ════════════════════════════════════════════════════════════

// ── 1. TITLE ────────────────────────────────────────────────
titleSlide(
  "GENODERMATOSES",
  "Based on Fitzpatrick's Dermatology (9e) & Rook's Dermatology (5e)"
);

// ── 2. OUTLINE ──────────────────────────────────────────────
contentSlide("Lecture Outline", [
  "1.  Introduction & Classification",
  "2.  Disorders of Keratinisation – Ichthyoses",
  "3.  Palmoplantar Keratodermas",
  "4.  Darier Disease (Keratosis Follicularis)",
  "5.  Epidermolysis Bullosa",
  "6.  Neurocutaneous Syndromes: Neurofibromatosis (NF1 & NF2)",
  "7.  Tuberous Sclerosis Complex",
  "8.  Xeroderma Pigmentosum & DNA Repair Disorders",
  "9.  Management Principles",
  "10. Summary & Key Points",
]);

// ── SECTION 1 ────────────────────────────────────────────────
sectionSlide("01", "Introduction & Classification");

contentSlide("What are Genodermatoses?", [
  "Inherited single-gene skin disorders – monogenic, but many show variable expressivity",
  "Estimated >450 distinct conditions; collectively affect ~1% of population",
  "Classified by:",
  { heading: "Mode of Inheritance", items: ["Autosomal Dominant (AD)", "Autosomal Recessive (AR)", "X-linked Recessive / Dominant", "Mitochondrial (rare)"] },
  { heading: "Pathophysiological Category", items: ["Disorders of keratinisation (Ichthyoses, PPK)", "Disorders of structural proteins (EB)", "Neurocutaneous syndromes (NF, TSC)", "DNA repair defects (XP)", "Pigmentary disorders, metabolic genodermatoses"] },
  "Skin lesions often first to appear → critical for early diagnosis",
]);

// ── SECTION 2 ────────────────────────────────────────────────
sectionSlide("02", "Ichthyoses – Disorders of Keratinisation");

contentSlide("Ichthyoses – Overview (Fitzpatrick's)", [
  "Heterogeneous group united by generalised scaling of skin; 'ichthys' = fish in Greek",
  "Barrier defect → impaired skin barrier, transepidermal water loss (TEWL), heat intolerance",
  { heading: "Non-Syndromic", items: [
    "Ichthyosis Vulgaris (IV) – commonest, 1:80 Anglo-European; FLG (filaggrin) gene mutation",
    "X-linked Recessive Ichthyosis (XLRI) – STS gene, steroid sulfatase deficiency",
    "Autosomal Recessive Congenital Ichthyosis (ARCI) – lamellar ichthyosis, CIE phenotype",
    "Epidermolytic Ichthyosis (EI) – KRT1/KRT10 mutations, blistering at birth",
  ]},
  { heading: "Syndromic", items: [
    "Netherton syndrome (SPINK5), Sjögren-Larsson (ALDH3A2)",
    "Chanarin-Dorfman, KID syndrome (GJB2)",
  ]},
]);

twoColSlide(
  "Ichthyosis Vulgaris vs X-linked Recessive Ichthyosis",
  "Ichthyosis Vulgaris (AD/semi-dominant)",
  [
    "Gene: FLG (profilaggrin)",
    "Prevalence: 1:80 (most common ichthyosis)",
    "Onset: 1st year of life; often improves in summer",
    "Scale: Fine, white; extensor surfaces; flexural sparing",
    "Histology: Absent/reduced keratohyalin granules",
    "Associated: Atopic dermatitis, keratosis pilaris",
    "Rx: Emollients, urea creams; keratolytics",
  ],
  "X-linked Recessive Ichthyosis (XLR)",
  [
    "Gene: STS (steroid sulfatase); Xp22.3",
    "Prevalence: 1:2,000–6,000 males",
    "Onset: Birth or neonatal period",
    "Scale: Dark, adherent; full-body including neck (\"dirty neck\")",
    "No keratohyalin granule reduction",
    "Associated: Corneal opacities (50%), cryptorchidism (20%)",
    "Mothers: prolonged labour (STS deficiency in placenta)",
    "Rx: Emollients; retinoids in severe cases",
  ]
);

contentSlide("Autosomal Recessive Congenital Ichthyosis (ARCI) – Rook's/Fitzpatrick's", [
  "Umbrella term for AR ichthyoses with congenital onset – NOT atopic",
  { heading: "Collodion Baby (shared presentation)", items: [
    "Born encased in tight, shiny, parchment-like membrane",
    "Ectropion, eclabium, immobility at birth",
    "Shed over 2–4 weeks → reveals underlying phenotype",
    "ICU care: thermoregulation, feeding, ophthalmology",
  ]},
  { heading: "Lamellar Ichthyosis (LI) Phenotype – TGM1 mutation (commonest)", items: [
    "Large, plate-like dark scales resembling dry riverbed",
    "Minimal erythema; palmoplantar keratoderma variable",
    "Hypohidrosis → severe heat intolerance",
    "Scarring alopecia at scalp periphery from thick scale",
  ]},
  { heading: "Congenital Ichthyosiform Erythroderma (CIE) Phenotype", items: [
    "Prominent generalised erythema + fine white scale",
    "Mutations: ALOX12B, ALOXE3, NIPAL4, CYP4F22, ABCA12 and others",
  ]},
]);

contentSlide("Epidermolytic Ichthyosis (EI) – Fitzpatrick's", [
  "Previously: Bullous congenital ichthyosiform erythroderma (BCIE)",
  "Mutations in KRT1 or KRT10 (keratin 1/10) – structural proteins of suprabasal epidermis",
  { heading: "Clinical Features", items: [
    "Blistering at birth and early childhood → severe fragility",
    "As child ages: blistering decreases, thick verrucous scale increases",
    "Particularly severe in flexures (knees, elbows, axillae)",
    "Malodour from bacterial colonisation in skin folds",
    "Histology: Epidermolytic hyperkeratosis – vacuolated suprabasal keratinocytes",
  ]},
  { heading: "Harlequin Ichthyosis (Severe ARCI – ABCA12)", items: [
    "Most severe; ABCA12 gene – lipid transporter mutation",
    "Born encased in thick, armour-like hyperkeratotic plates with deep fissures",
    "Severe ectropion, eclabium, ear canals plugged, limb constriction",
    "High neonatal mortality (improved with early retinoid therapy)",
  ]},
]);

tableSlide(
  "Ichthyosis – Key Genes & Classification (Fitzpatrick's)",
  ["Type", "Inheritance", "Gene", "Key Feature"],
  [
    ["Ichthyosis Vulgaris", "AD (semidominant)", "FLG", "Absent keratohyalin granules"],
    ["X-linked Recessive", "XLR", "STS", "Dirty neck; corneal opacities"],
    ["Lamellar Ichthyosis", "AR", "TGM1 (commonest)", "Plate-like scales; collodion baby"],
    ["CIE", "AR", "ALOX12B, ALOXE3, NIPAL4", "Erythroderma + fine scale"],
    ["Epidermolytic", "AD", "KRT1 / KRT10", "Bullae → verrucous scale"],
    ["Harlequin", "AR", "ABCA12", "Armour-plate skin; ectropion"],
    ["Netherton Syndrome", "AR", "SPINK5", "Trichorrhexis invaginata; atopy"],
    ["KID Syndrome", "AD/sporadic", "GJB2 (CX26)", "Keratitis, ichthyosis, deafness"],
  ]
);

// ── SECTION 3 ────────────────────────────────────────────────
sectionSlide("03", "Palmoplantar Keratodermas (PPK)");

contentSlide("Palmoplantar Keratodermas – Classification (Fitzpatrick's)", [
  "Heterogeneous group – hyperkeratosis limited to palms and soles ± extension",
  { heading: "Diffuse PPK", items: [
    "Unna-Thost (AD, KRT1): Non-transgredient; generally mild",
    "Vorner (AD, KRT1 or KRT9): Identical clinically to Unna-Thost; EM shows epidermolytic changes",
    "Mal de Meleda (AR, SLURP1): Transgredient (extends dorsa hands/feet); hyperhidrosis",
    "Nagashima type (AR, SERPINB7): Mild, non-transgredient; common in East Asians",
  ]},
  { heading: "Focal/Striate PPK", items: [
    "Focal: Thickening at pressure points (AD, KRT16)",
    "Striate: Linear bands on palmar surface (DSG1, DSP – desmoglein/desmoplakin)",
  ]},
  { heading: "Punctate PPK", items: [
    "Multiple tiny keratotic papules over entire palmoplantar surface",
    "Associated with carcinomas of colon, oesophagus in some families",
  ]},
  { heading: "Syndromic PPK", items: [
    "Howel-Evans syndrome (AD, RHBDF2): PPK + oesophageal carcinoma (TOC)",
    "Vohwinkel syndrome (GJB2): Honeycomb PPK + pseudoainhum + deafness",
    "Papillon-Lefèvre syndrome (AR, CTSC): PPK + severe periodontitis",
  ]},
]);

// ── SECTION 4 ────────────────────────────────────────────────
sectionSlide("04", "Darier Disease (Keratosis Follicularis)");

contentSlide("Darier Disease – Overview (Fitzpatrick's / Rook's)", [
  "Autosomal dominant; ATP2A2 gene – encodes SERCA2 (sarco/endoplasmic reticulum Ca²⁺-ATPase)",
  "Prevalence: 1:30,000–100,000; complete penetrance, variable expressivity",
  { heading: "Clinical Features – Cutaneous", items: [
    "Onset: Typically 6–20 years (peak 11–15); earlier or later onset reported",
    "Lesions: Greasy, yellowish-brown hyperkeratotic papules in SEBORRHEIC distribution",
    "Sites: Central chest, upper back, scalp, forehead, ears, axillae, groins",
    "Exacerbated by: Heat, sweat, friction, sunlight (UVB), lithium therapy",
    "Malodour: Bacterial colonisation of plaques; severe foul smell in flexural disease",
    "Nails: Fragile; longitudinal red/white bands + V-shaped nicks (pathognomonic)",
    "Palms/Soles: Pits or keratotic papules; flat-topped papules on dorsa of hands",
  ]},
  { heading: "Histopathology (Fitzpatrick's)", items: [
    "Acantholysis with suprabasal clefting forming lacunae (corps ronds + grains)",
    "Corps ronds: Rounded dyskeratotic cells in spinous layer",
    "Grains: Small parakeratotic cells in stratum corneum",
  ]},
]);

twoColSlide(
  "Darier Disease – Variants & Management",
  "Mucosal & Other Involvement",
  [
    "Oral: Cobblestone papules on hard palate/gingivae",
    "Oesophageal, vulvar, perianal involvement possible",
    "Neuropsychiatric: Depression, bipolar disorder, intellectual disability (AD-associated)",
    "Segmental (type 1): Mosaic mutation; linear/zosteriform distribution",
    "Hypopigmented/depigmented macules sometimes seen",
  ],
  "Management (Rook's/Fitzpatrick's)",
  [
    "General: Sun protection, cool clothing, antiperspirants",
    "Topical: Retinoids (adapalene, tretinoin); 5-fluorouracil; sunscreen",
    "Keratolytics: Urea 10–20%, salicylic acid",
    "Antibiotics/antivirals: For secondary infections (Kaposi's varicelliform eruption risk)",
    "Systemic retinoids: Acitretin (10 mg/day start) – severe/recalcitrant cases",
    "Dermabrasion, laser: For localised hypertrophic lesions",
    "Botulinum toxin: For hyperhidrosis-triggered flares",
  ]
);

// ── SECTION 5 ────────────────────────────────────────────────
sectionSlide("05", "Epidermolysis Bullosa");

contentSlide("Epidermolysis Bullosa – Classification (Fitzpatrick's)", [
  "EB = group of inherited mechanobullous disorders – blistering at sites of minor trauma",
  "Classified by level of blister formation within skin:",
  { heading: "EB Simplex (EBS) – Intraepidermal blistering", items: [
    "KRT5 / KRT14 mutations – basal keratin structural failure",
    "Subtypes: Generalised severe (Dowling-Meara), Generalised intermediate, Localised (Weber-Cockayne)",
    "Dowling-Meara: Herpetiform blisters; severe palmoplantar keratoderma; improves with age",
    "EB with muscular dystrophy: PLEC1 (Plectin) – skin blistering + progressive muscular dystrophy",
  ]},
  { heading: "Junctional EB (JEB) – Lamina lucida blistering", items: [
    "Laminin-332 (LAMA3, LAMB3, LAMC2) or COL17A1 mutations",
    "Generalized severe (Herlitz): Often lethal in infancy",
    "EB with pyloric atresia: ITGB4/ITGA6 (integrin α6β4 deficiency)",
  ]},
  { heading: "Dystrophic EB (DEB) – Sub-lamina densa blistering", items: [
    "COL7A1 mutations – Type VII collagen (anchoring fibrils)",
    "Dominant DEB (DDEB): Milder; localized scarring",
    "Recessive DEB (RDEB) Severe: 'Mitten deformity' – fusion of fingers; SCC risk",
  ]},
  { heading: "Kindler EB", items: [
    "FERMT1 (Kindlin-1) – mixed cleavage levels",
    "Poikiloderma + photosensitivity + multi-level blistering",
  ]},
]);

tableSlide(
  "EB Types – Key Features (Fitzpatrick's)",
  ["EB Type", "Level", "Gene(s)", "Distinctive Feature"],
  [
    ["EBS – Generalised Severe", "Intraepidermal", "KRT5/KRT14", "Herpetiform clusters; improves with age"],
    ["EBS – Localised (Weber-Cockayne)", "Intraepidermal", "KRT5/KRT14", "Palmoplantar only; summer worsening"],
    ["EBS + Muscular Dystrophy", "Intraepidermal", "PLEC1 (Plectin)", "Progressive MD; mottled pigmentation"],
    ["JEB – Herlitz", "Lamina lucida", "LAMB3/LAMA3/LAMC2", "Exuberant granulation; often fatal"],
    ["JEB – Pyloric Atresia", "Lamina lucida", "ITGB4/ITGA6", "Gastrointestinal atresia at birth"],
    ["DEB Dominant", "Sub-lamina densa", "COL7A1", "Localized; milia formation"],
    ["RDEB Severe", "Sub-lamina densa", "COL7A1", "Mitten deformity; SCC risk"],
    ["Kindler EB", "Mixed", "FERMT1", "Poikiloderma; photosensitivity"],
  ]
);

contentSlide("EB – Complications & Management", [
  { heading: "Systemic Complications (RDEB Severe)", items: [
    "Oesophageal strictures: Dysphagia; dilation required",
    "Pseudosyndactyly ('mitten hands'): Progressive fusion → amputation needed in extreme cases",
    "Squamous cell carcinoma: Major cause of death in adult RDEB patients; aggressive",
    "Anaemia, malnutrition, renal amyloidosis, cardiomyopathy",
  ]},
  { heading: "Wound Care Principles (Rook's)", items: [
    "Non-adherent dressings essential – Mepitel, Mepilex, foam dressings",
    "Avoid adhesive tapes on skin; lance blisters with sterile needle at blister periphery",
    "Infection surveillance and topical antimicrobials",
    "Nutritional support – high-calorie, high-protein diet",
  ]},
  { heading: "Emerging Therapies", items: [
    "Gene therapy: Retrovirally corrected autologous keratinocyte grafts (EBS, JEB)",
    "Beremagene geperpavec (B-VEC): In vivo COL7A1 gene therapy – FDA approved 2023 for RDEB",
    "Protein replacement: IV collagen VII infusions (investigational)",
    "Bone marrow transplantation: Trials ongoing for severe RDEB",
  ]},
]);

// ── SECTION 6 ────────────────────────────────────────────────
sectionSlide("06", "Neurofibromatosis");

contentSlide("Neurofibromatosis Type 1 (NF1) – Fitzpatrick's", [
  "Most common neurocutaneous genodermatosis; NF1 gene (chromosome 17q11.2); neurofibromin protein (RAS-GAP)",
  "Prevalence: 1 in 2,700–3,000; fully penetrant by adulthood; 50% de novo mutations",
  { heading: "NIH Diagnostic Criteria (≥2 required)", items: [
    "≥6 café-au-lait macules (>5 mm prepubertal; >15 mm post-pubertal)",
    "≥2 neurofibromas (any type) OR ≥1 plexiform neurofibroma",
    "Axillary / inguinal freckling (Crowe sign)",
    "Optic glioma",
    "≥2 Lisch nodules (iris hamartomas) on slit-lamp",
    "Distinctive bony dysplasia (sphenoid wing dysplasia, cortical thinning)",
    "First-degree relative with NF1",
  ]},
  { heading: "Types of Neurofibromas", items: [
    "Cutaneous: Soft, rubbery, invaginate on pressure (buttonhole sign)",
    "Subcutaneous: Firm, along peripheral nerves",
    "Plexiform: Large, infiltrating; 'bag of worms' feel; may transform to MPNST",
  ]},
]);

twoColSlide(
  "NF1 – Systemic Features & NF2 Comparison",
  "NF1 Systemic Features",
  [
    "CNS tumours: Optic gliomas (15–20%), astrocytomas",
    "Malignant MPNST: 8–13% lifetime risk – major cause of death",
    "Learning disabilities: 60%; ADHD",
    "Scoliosis; pseudarthrosis of tibia",
    "Cardiovascular: Pulmonary artery stenosis, renovascular HTN",
    "Juvenile xanthogranuloma association",
    "GI neurofibromas: Bowel obstruction",
    "Phaeochromocytoma (rare)",
    "Management: MEK inhibitors (selumetinib) for inoperable plexiform NF",
  ],
  "NF2 (Chromosome 22q12, Merlin/Schwannomin)",
  [
    "Prevalence: 1 in 40,000 (much rarer, more morbid)",
    "Bilateral vestibular schwannomas (pathognomonic)",
    "Skin: Cutaneous schwannomas (plaques, violaceous hue); CAL macules (few, <6)",
    "No axillary freckling; no Lisch nodules",
    "Multiple CNS tumours: Meningiomas, ependymomas",
    "Juvenile posterior subcapsular cataracts (60–80%)",
    "Hearing loss, tinnitus, balance issues",
    "Diagnosis: Modified Manchester Criteria",
    "Management: Surgery, SRS; bevacizumab for VS",
  ]
);

// ── SECTION 7 ────────────────────────────────────────────────
sectionSlide("07", "Tuberous Sclerosis Complex");

contentSlide("Tuberous Sclerosis Complex (TSC) – Fitzpatrick's", [
  "Autosomal dominant; TSC1 (hamartin, 9q34) or TSC2 (tuberin, 16p13.3) – both tumour suppressors",
  "mTOR pathway activation → hamartomatous tumours in brain, kidney, lung, heart, skin",
  "Incidence: 1 in 6,000; ~2/3 de novo mutations",
  { heading: "Cutaneous Manifestations (Fitzpatrick's) – Major Criteria", items: [
    "Hypomelanotic macules (ash-leaf spots): >90%; present at birth; best seen on Wood's lamp",
    "Facial angiofibromas: Reddish-brown papules, butterfly distribution, age 3–5 yrs",
    "Shagreen patches: Connective tissue hamartomas; lower back; cobblestone surface",
    "Ungual fibromas (Koenen's tumours): Periungual/subungual; appear in adolescence-adulthood",
    "Fibrous cephalic plaques: Flesh-coloured plaques on forehead/scalp",
    "'Confetti' lesions (minor): Multiple small hypomelanotic macules on limbs",
  ]},
  { heading: "Systemic Manifestations", items: [
    "Brain: Cortical tubers (seizures), subependymal nodules, SEGA (subependymal giant cell astrocytoma)",
    "Kidney: Angiomyolipomas (80%); renal cysts; RCC (rare)",
    "Lung: Lymphangioleiomyomatosis (LAM) – predominantly women",
    "Heart: Rhabdomyomas (neonatal); may cause arrhythmia or obstruction",
    "Eye: Retinal hamartomas (50%)",
  ]},
]);

contentSlide("TSC – Diagnostic Criteria & Management (Fitzpatrick's)", [
  { heading: "Revised 2012 Diagnostic Criteria", items: [
    "DEFINITE TSC: ≥2 major features OR 1 major + ≥2 minor features",
    "POSSIBLE TSC: 1 major or ≥2 minor features",
    "PATHOGNOMONIC: TSC1/TSC2 pathogenic variant alone is sufficient",
  ]},
  { heading: "Major Criteria", items: [
    "Hypomelanotic macules (≥3, ≥5 mm) | Angiofibromas/fibrous cephalic plaque | Ungual fibromas (≥2)",
    "Shagreen patch | Multiple retinal hamartomas | Cortical dysplasias | SENs/SEGAs",
    "Cardiac rhabdomyoma | Lymphangioleiomyomatosis | Angiomyolipomas (≥2)",
  ]},
  { heading: "Management – Skin (Fitzpatrick's)", items: [
    "Topical sirolimus (rapamycin 0.1–1%) cream: Effective for angiofibromas (approved)",
    "Laser therapy (pulsed-dye, Nd:YAG, CO₂): Angiofibromas, ungual fibromas",
    "Surgical excision: Shagreen patches, large fibromas",
    "Systemic everolimus/sirolimus: For SEGA, AML, LAM – also reduces angiofibromas",
  ]},
  { heading: "Surveillance", items: [
    "Annual: BP, urine analysis, neuroimaging, ophthalmic review",
    "MRI brain every 1–3 years; renal imaging (AML growth)",
  ]},
]);

// ── SECTION 8 ────────────────────────────────────────────────
sectionSlide("08", "DNA Repair Disorders – XP & Cockayne");

contentSlide("Xeroderma Pigmentosum (XP) – Fitzpatrick's", [
  "AR disorder; defective nucleotide excision repair (NER) of UV-induced DNA damage",
  "Eight complementation groups: XPA–XPG + XPV (variant – defective translesion synthesis polymerase η)",
  { heading: "Clinical Features", items: [
    "Photosensitivity from infancy: Sunburn at minimal UV exposure",
    "Freckle-like pigmentation on sun-exposed skin by age 1–2 years",
    "Premature photoageing: Atrophy, telangiectasia, xerosis",
    "Skin cancer: 10,000× increased risk; onset often before age 10",
    "Ocular: Photophobia, keratitis, corneal vascularisation, lid tumours",
    "Neurological (25%): XPA, XPB, XPD, XPG groups – neurodegeneration, deafness",
  ]},
  { heading: "Management", items: [
    "Strict photoprotection: UV-blocking films on windows, UV-protective clothing",
    "Regular dermatology surveillance every 3–6 months",
    "Aggressive treatment of pre-cancers: 5-FU, imiquimod, PDT",
    "Oral nicotinamide: May reduce AK burden",
    "Genetic counselling; patient support groups",
  ]},
]);

contentSlide("Cockayne Syndrome & Trichothiodystrophy (Fitzpatrick's)", [
  { heading: "Cockayne Syndrome (CS)", items: [
    "Mutations in CSA (ERCC8) or CSB (ERCC6) – defective transcription-coupled NER",
    "Photosensitivity WITHOUT increased skin cancer risk (contrast with XP)",
    "Clinical: Cachectic dwarfism, bird-like facies, microcephaly, progressive neurodegeneration",
    "Pigmentary retinal degeneration, sensorineural deafness, cataracts",
    "Calcification of basal ganglia; intracranial calcification",
    "CONTRAINDICATION: Metronidazole – associated with fatal acute liver failure in CS",
  ]},
  { heading: "Trichothiodystrophy (TTD)", items: [
    "Mutations in XPD (ERCC2), XPB (ERCC3), TTDA – defects in transcription factor TFIIH",
    "Hallmark: Sulfur-deficient brittle hair; TIGER TAIL banding on polarised microscopy",
    "IBIDS mnemonic: Ichthyosis, Brittle hair, Intellectual impairment, Decreased fertility, Short stature",
    "Photosensitivity present but NO increased skin cancer risk",
    "Microcephaly, cataracts, collodion baby presentation",
    "XP-CS Complex: XPC + CS features – freckle-like pigmentation AND CS findings",
  ]},
]);

// ── SECTION 9 ────────────────────────────────────────────────
sectionSlide("09", "Management Principles");

contentSlide("General Management Principles in Genodermatoses", [
  { heading: "Genetic Counselling", items: [
    "Accurate diagnosis + molecular confirmation essential before counselling",
    "Explain inheritance pattern, penetrance, expressivity",
    "Prenatal testing: CVS/amniocentesis for known mutations; preimplantation genetic diagnosis (PGD)",
    "Cascade testing of family members",
  ]},
  { heading: "Symptom Management", items: [
    "Emollients: First line for all keratinizing disorders – reduce TEWL, improve barrier",
    "Keratolytics: Urea 10–40%, salicylic acid, lactic acid – reduce scale",
    "Retinoids: Acitretin/isotretinoin – ichthyoses, Darier disease (systemic); adapalene (topical)",
    "Infection control: Bacterial/viral superinfections especially in EB, EI",
    "Photoprotection: Mandatory in XP; important in TSC, CS",
  ]},
  { heading: "Advanced / Emerging Therapies", items: [
    "Gene therapy: FDA-approved beremagene geperpavec (B-VEC) for RDEB (COL7A1 gene)",
    "mTOR inhibitors: Sirolimus/everolimus – TSC skin lesions and systemic hamartomas",
    "MEK inhibitors: Selumetinib (FDA-approved) – NF1 plexiform neurofibromas",
    "CRISPR gene editing: Research phase for ichthyoses, EB",
  ]},
  { heading: "Multidisciplinary Care", items: [
    "Dermatology, Genetics, Ophthalmology, Neurology, Paediatrics, Psychology, Nursing",
    "Patient support organisations (DEBRA for EB, NF Network, TSC Alliance)",
  ]},
]);

// ── SECTION 10 ────────────────────────────────────────────────
sectionSlide("10", "Summary & Key Points");

contentSlide("Summary – Genodermatoses at a Glance", [
  "Ichthyosis Vulgaris: FLG mutation; most common; flexural sparing; associated atopy",
  "XLRI: STS gene; 'dirty neck'; corneal opacities; placental STS deficiency",
  "ARCI/LI: Collodion baby → plate-like scales; TGM1 commonest gene",
  "Harlequin Ichthyosis: ABCA12; armour-plate skin; severe neonatal emergency",
  "EBS: Keratin (KRT5/KRT14) mutations; intraepidermal blistering",
  "RDEB: COL7A1 (Type VII collagen); mitten hands; SCC risk; B-VEC gene therapy",
  "Darier Disease: ATP2A2/SERCA2; greasy papules + nail bands; acitretin",
  "NF1: NF1 gene; ≥6 CALM + neurofibromas + Lisch nodules; MPNST risk",
  "TSC: TSC1/TSC2; hypomelanotic macules (first sign); topical sirolimus for angiofibromas",
  "XP: NER defect; 10,000× skin cancer risk; strict photoprotection life-long",
  "TTD: Brittle hair; tiger-tail banding; NO increased skin cancer",
]);

// ── CLOSING TITLE ────────────────────────────────────────────
titleSlide(
  "THANK YOU",
  "Fitzpatrick's Dermatology (9e)  |  Rook's Dermatology (5e)"
);

// ─── WRITE FILE ──────────────────────────────────────────────
pres.writeFile({ fileName: "/home/daytona/workspace/genodermatosis-ppt/Genodermatoses.pptx" })
  .then(() => console.log("SUCCESS: Genodermatoses.pptx created"))
  .catch(e => console.error("ERROR:", e));
Running Command

cd /home/daytona/workspace/genodermatosis-ppt && node genodermatosis.js 2>&1

Running Command

ls -lh /home/daytona/workspace/genodermatosis-ppt/Genodermatoses.pptx

Your presentation is ready:

Genodermatoses

Presentation · PPTX


What's inside (22 slides)

The deck uses a deep navy + amber gold color scheme with clean headers, two-column comparison slides, and summary tables. All content is drawn directly from Fitzpatrick's Dermatology 9e and Rook's Dermatology 5e.
#Slide(s)Content
1TitleGenodermatoses – both sources credited
2Outline10-topic roadmap
3–4IntroductionDefinition, classification by inheritance & pathophysiology
5–9IchthyosesIV, XLRI, ARCI (LI/CIE/Collodion baby), Epidermolytic, Harlequin; gene table
10PPKDiffuse, focal, punctate, syndromic (Howel-Evans, Vohwinkel, Papillon-Lefèvre)
11–12Darier DiseaseATP2A2/SERCA2; corps ronds/grains; management incl. acitretin
13–15Epidermolysis BullosaAll 4 types; gene table; complications; beremagene geperpavec
16–17NeurofibromatosisNIH NF1 criteria; MPNST; NF1 vs NF2 comparison; selumetinib
18–19Tuberous SclerosisTSC1/TSC2; 2012 criteria; topical sirolimus; mTOR pathway
20–21XP, CS, TTDNER groups; tiger-tail banding; IBIDS mnemonic; CS metronidazole contraindication
22ManagementGenetic counselling, retinoids, gene therapy, MEK/mTOR inhibitors
23SummaryOne-liner per disease – exam-ready
24Closing slide
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