Genodermatosis ppt based on Rook and fitzpatrick
mkdir -p /home/daytona/workspace/genodermatosis-ppt && ls /home/daytona/workspac…
~/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));
cd /home/daytona/workspace/genodermatosis-ppt && node genodermatosis.js 2>&1
ls -lh /home/daytona/workspace/genodermatosis-ppt/Genodermatoses.pptx
Genodermatoses
Presentation · PPTX
| # | Slide(s) | Content |
|---|---|---|
| 1 | Title | Genodermatoses – both sources credited |
| 2 | Outline | 10-topic roadmap |
| 3–4 | Introduction | Definition, classification by inheritance & pathophysiology |
| 5–9 | Ichthyoses | IV, XLRI, ARCI (LI/CIE/Collodion baby), Epidermolytic, Harlequin; gene table |
| 10 | PPK | Diffuse, focal, punctate, syndromic (Howel-Evans, Vohwinkel, Papillon-Lefèvre) |
| 11–12 | Darier Disease | ATP2A2/SERCA2; corps ronds/grains; management incl. acitretin |
| 13–15 | Epidermolysis Bullosa | All 4 types; gene table; complications; beremagene geperpavec |
| 16–17 | Neurofibromatosis | NIH NF1 criteria; MPNST; NF1 vs NF2 comparison; selumetinib |
| 18–19 | Tuberous Sclerosis | TSC1/TSC2; 2012 criteria; topical sirolimus; mTOR pathway |
| 20–21 | XP, CS, TTD | NER groups; tiger-tail banding; IBIDS mnemonic; CS metronidazole contraindication |
| 22 | Management | Genetic counselling, retinoids, gene therapy, MEK/mTOR inhibitors |
| 23 | Summary | One-liner per disease – exam-ready |
| 24 | Closing slide |