8.1 Dermatopathology High-Yield Lesions
Key Takeaways
Epidermis is stratified squamous keratinocytes (basal → spinous → granular → cornified) with melanocytes, Langerhans cells, and Merkel cells as high-yield non-keratinocyte residents.
Pemphigus vulgaris is IgG against desmoglein (acantholysis, flaccid blisters, +Nikolsky, oral involvement); bullous pemphigoid is IgG against hemidesmosome BP180/BP230 (tense subepidermal blisters, −Nikolsky, elderly).
Psoriasis is Th1/Th17-driven with IL-12/IL-17/IL-23/TNF and parakeratosis; atopic dermatitis is Th2-driven (IL-4/IL-13/IgE) with barrier defect (filaggrin).
Melanoma risk tracks UV and ABCDE morphology; BCC is most common, locally invasive, pearly/telangiectatic; SCC arises in sun-damaged skin and can metastasize.
Systemic clues: acanthosis nigricans (insulin resistance), erythema nodosum (septal panniculitis, strep/IBD/sarcoid/drugs), purpura patterns (palpable = vasculitis).
Skin Architecture: Layers and Cell Types
Skin is a barrier, immune organ, and thermoregulatory surface. Exam vignettes encode disease level by which layer fails.
Epidermis (avascular, stratified squamous)
From deep to superficial:
| Layer | Key features | High-yield associations |
|---|---|---|
| Stratum basale | Single cuboidal/columnar layer; stem cells; mitoses | Basal cell carcinoma origin; hemidesmosomes anchor to basement membrane |
| Stratum spinosum | Desmosomes ("spines"); thickest living layer | Pemphigus acantholysis; squamous cell carcinoma often from spinous keratinocytes |
| Stratum granulosum | Keratohyalin granules; lipid envelope precursors | Filaggrin/barrier defects (atopic dermatitis, ichthyosis vulgaris) |
| Stratum lucidum | Clear layer in thick skin (palms/soles) | Rarely tested beyond thick-skin anatomy |
| Stratum corneum | Anucleate corneocytes + lipids | Barrier; parakeratosis = retained nuclei (psoriasis) |
Non-keratinocyte cells:
- Melanocytes (neural crest) in basal layer: synthesize melanin in melanosomes transferred to keratinocytes. Melanoma is malignant melanocyte neoplasia.
- Langerhans cells (bone-marrow–derived dendritic cells) in mid-epidermis: CD1a+, Birbeck granules ("tennis racket" on EM); present antigen and migrate to nodes. Depleted by UV.
- Merkel cells: mechanoreceptors in basal epidermis; Merkel cell carcinoma is rare but aggressive (neuroendocrine skin tumor).
Dermis and Subcutis
The dermis contains collagen (type I predominant), elastic fibers, vessels, nerves, adnexa (hair follicles, sebaceous and sweat glands), and immune cells. Superficial papillary dermis interfaces basement membrane; deeper reticular dermis is denser. Subcutis (hypodermis) is adipose tissue—site of panniculitis (e.g., erythema nodosum).
Basement membrane zone (BMZ) is the critical split plane for many blistering diseases: hemidesmosomes link basal keratinocytes to lamina lucida/densa; autoantibodies against BMZ components produce subepidermal blisters.
Primary Lesion Terminology
Use precise morphology—vignettes often hinge on one word.
| Lesion | Definition | Exam tip |
|---|---|---|
| Macule | Flat color change <1 cm | Freckle, flat junctional nevus |
| Patch | Flat ≥1 cm | Vitiligo, café-au-lait |
| Papule | Raised solid <1 cm | Molluscum, many viral warts early |
| Plaque | Raised plateau ≥1 cm | Psoriasis, eczema patches |
| Nodule | Deep/solid, often dermal–subcutis | Erythema nodosum lesions, many tumors |
| Vesicle / bulla | Fluid-filled <1 cm / ≥1 cm | HSV vesicles; bullous pemphigoid bullae |
| Pustule | Pus-filled | Acne, folliculitis |
| Wheal | Transient dermal edema | Urticaria (histamine) |
| Purpura | Non-blanching blood in skin | Petechiae (<3 mm) vs ecchymoses; palpable purpura → vasculitis |
Secondary changes (scale, crust, erosion, ulcer, lichenification, scar) describe evolution after the primary process. Nikolsky sign (shear-induced epidermal separation) is positive when cohesion within epidermis or just above BMZ is lost (pemphigus, SJS/TEN, staphylococcal scalded skin)—not classic for bullous pemphigoid.
Autoimmune Blistering: Level of Split Decides the Clinic
| Feature | Pemphigus vulgaris | Bullous pemphigoid |
|---|---|---|
| Typical patient | Middle-aged adult | Elderly |
| Target | Desmogleins (Dsg3 ± Dsg1)—desmosomal cadherins | BP180 (BPAG2) and BP230 (BPAG1)—hemidesmosome |
| Split level | Intraepidermal (suprabasal acantholysis) | Subepidermal (beneath basal cells) |
| Blister | Flaccid, rupture easily → erosions | Tense, intact bullae |
| Nikolsky | Often positive | Negative |
| Oral mucosa | Common and severe | Uncommon |
| Immunofluorescence | Net-like (fishnet) IgG/C3 in epidermis | Linear IgG/C3 along BMZ |
| Histology pearl | Tombstoning of basal cells | Eosinophil-rich subepidermal blister |
Mechanism logic: antibodies against desmosomes dissolve keratinocyte–keratinocyte adhesion → acantholysis and fragile blisters. Antibodies against hemidesmosomes detach the entire epidermis from dermis → tense fluid-filled bullae. IgA variants (dermatitis herpetiformis—granular IgA in dermal papillae; associated with celiac disease) and epidermolysis bullosa acquisita (type VII collagen) appear less often but share "level of split + immunofluorescence pattern" reasoning.
Severe Cutaneous Adverse Drug Reactions: SJS and TEN
The blueprint carries adverse effects of drugs on skin and subcutaneous tissue as its own category, and Stevens-Johnson syndrome (SJS) / toxic epidermal necrolysis (TEN) is its highest-stakes entry. The two are one disease on a single severity spectrum, separated only by the body surface area (BSA) of epidermal detachment:
| Feature | SJS | SJS/TEN overlap | TEN |
|---|---|---|---|
| Epidermal detachment | <10% BSA | 10–30% BSA | >30% BSA |
| Mucosal sites involved | ≥2 in most cases | ≥2 | ≥2 |
| Mortality | Low single digits | Intermediate | Up to roughly 30% |
Mechanism. A drug or reactive metabolite is presented to CD8+ cytotoxic T cells, which kill keratinocytes via granulysin, perforin/granzyme B, and Fas–FasL signaling. The result is full-thickness epidermal necrosis with a subepidermal split and only a sparse dermal lymphocytic infiltrate — histologically distinct from the eosinophil-rich subepidermal blister of bullous pemphigoid and from the intraepidermal acantholysis of pemphigus vulgaris described above.
Classic triggers in a stem: sulfonamides (especially trimethoprim-sulfamethoxazole), allopurinol, aromatic anticonvulsants (carbamazepine, phenytoin, lamotrigine), nevirapine, and oxicam NSAIDs. Onset is typically 1–3 weeks after the drug is started, opening with fever and a flu-like prodrome before painful skin and mucosal erosions appear.
High-yield discriminators.
- Nikolsky sign is positive (lateral pressure shears the epidermis) — shared with pemphigus vulgaris and staphylococcal scalded skin syndrome (SSSS), but not with bullous pemphigoid.
- SSSS splits in the granular layer from exfoliative toxin and spares mucous membranes; TEN splits at the dermal–epidermal junction and essentially always involves mucosa. Add age (SSSS in young children) and that pair becomes an easy two-point discrimination.
- Erythema multiforme is a separate, milder entity most often triggered by HSV, defined by true target lesions on acral surfaces; it is no longer classified as the mild end of the SJS spectrum.
- HLA-B*15:02 predicts carbamazepine-induced SJS/TEN in patients of Han Chinese and Southeast Asian ancestry; HLA-B*58:01 predicts allopurinol reactions. Pharmacogenomic screening is the preventive answer when a stem offers it.
The immediate action tested is invariant: stop the culprit drug, then support the patient as a burn — fluid resuscitation, thermoregulation, wound care, and early ophthalmology involvement for ocular mucosa.
Psoriasis Pathogenesis
Psoriasis is a chronic immune-mediated disease of keratinocyte hyperproliferation and incomplete differentiation.
Key pathway: dendritic cells and macrophages drive a Th1/Th17 axis. IL-12 and IL-23 promote Th1/Th17 differentiation; IL-17, IL-22, and TNF-α stimulate keratinocyte proliferation and chemokine production that recruits more leukocytes—a self-amplifying loop. Biologics targeting TNF, IL-17, or IL-23 exploit this axis (pharmacology overlap).
Histology triad concepts:
- Hyperkeratosis with parakeratosis (nuclei retained in stratum corneum—accelerated turnover).
- Acanthosis with elongated rete ridges ("regular" psoriasiform hyperplasia).
- Munro microabscesses (neutrophils in stratum corneum) and thin/absent granular layer; dilated vessels in dermal papillae → pinpoint bleeding on scale removal (Auspitz sign).
Clinical: well-demarcated erythematous plaques with silvery scale on extensor surfaces, scalp, lumbosacral skin; nail pitting and oil spots; psoriatic arthritis and metabolic associations. Triggers include trauma (Koebner phenomenon), streptococcal pharyngitis (guttate psoriasis), drugs (e.g., β-blockers, lithium, interferon), and withdrawal of systemic steroids.
Eczema / Atopic Dermatitis: Th2 and Barrier
Atopic dermatitis is a type I hypersensitivity–linked, barrier-first disease.
- Barrier defect: loss-of-function filaggrin mutations impair natural moisturizing factor and lipid organization → transepidermal water loss and allergen penetration.
- Immune skew: Th2 cytokines IL-4 and IL-13 drive IgE class switching; IL-5 supports eosinophils. Chronic lesions may recruit more mixed inflammation, but classic acute disease is Th2.
- Clinical: pruritic flexural eczema in children (face/extensors in infants), lichenification with chronic scratching; strong association with asthma and allergic rhinitis ("atopic march"). Secondary infection with S. aureus is common (superantigen exposure can worsen flares).
Contact dermatitis differs: allergic contact dermatitis is type IV (delayed) T-cell response to haptens (e.g., nickel, poison ivy urushiol); irritant contact dermatitis is non-immune direct toxicity.
Acne Pathogenesis
Acne vulgaris is a pilosebaceous unit disease of adolescents and adults with four interacting drivers:
- Androgen-stimulated sebum production (puberty; also PCOS/endocrine states).
- Follicular hyperkeratinization plugging the follicle (comedone formation: open = blackhead, closed = whitehead).
- Cutibacterium acnes (formerly Propionibacterium acnes) colonization of the anaerobic follicle.
- Inflammation—innate recognition of bacterial products, free fatty acids from sebum lipases, and neutrophil recruitment → papules, pustules, nodules, cysts.
Treatment logic maps to mechanism: retinoids normalize keratinization and reduce sebum signaling; benzoyl peroxide is antimicrobial/keratolytic; antibiotics reduce C. acnes and inflammation; anti-androgens or OCPs in selected female patients; isotretinoin for severe nodulocystic disease.
Melanoma vs Basal Cell Carcinoma vs Squamous Cell Carcinoma
| Feature | Melanoma | BCC | SCC |
|---|---|---|---|
| Cell of origin | Melanocyte | Basal keratinocyte | Squamous keratinocyte |
| UV relationship | Intense intermittent burns + cumulative; fair skin | Chronic sun; most common skin cancer | Chronic sun; also scars, ulcers, immunosuppression |
| Behavior | Metastatic potential high once vertical growth | Locally invasive; metastasis rare | Can metastasize (esp. lip, ear, immunosuppressed) |
| Classic look | ABCDE pigmented lesion; amelanotic variants exist | Pearly papule, rolled border, telangiectasias; may ulcerate | Scaly plaque/ulcer on sun-damaged skin; hyperkeratotic |
| Precursor concepts | Dysplastic nevi (risk marker); radial then vertical growth | Often de novo | Actinic keratosis → SCC in situ (Bowen) → invasive |
ABCDE for melanoma risk morphology: Asymmetry, Border irregularity, Color variegation, Diameter >6 mm (not absolute), Evolving. Depth (Breslow thickness) is the classic prognostic metric once invasive.
Risk amplifiers: fair skin/inability to tan, family history/CDKN2A and other syndromes, numerous atypical nevi, immunosuppression (especially SCC), arsenic, chronic wounds (Marjolin ulcer = SCC), xeroderma pigmentosum (nucleotide excision repair defect → extreme UV cancers).
Nevi: Growth Pattern and Risk Language
- Junctional nevus: nests at dermoepidermal junction; flat/macular, often pigmented.
- Compound nevus: junctional + dermal nests; raised pigmented.
- Intradermal nevus: nests entirely in dermis; often flesh-colored papule in adults.
- Congenital nevus: present at birth; large congenital nevi carry higher melanoma risk.
- Spitz nevus: spindle/epithelioid melanocytes in children/young adults; can mimic melanoma histologically—clinical context matters.
- Dysplastic (atypical) nevus: architectural/cytologic atypia; marker of increased melanoma risk, especially when numerous or familial.
Transformation is not the usual story for every common mole; exams emphasize changing lesions, high-risk phenotypes, and histopathologic depth once melanoma is diagnosed.
Dermatologic Manifestations of Systemic Disease
| Finding | Mechanism / association | Exam vignette cue |
|---|---|---|
| Acanthosis nigricans | Insulin resistance → growth-factor signaling; velvety hyperpigmented plaques (neck, axillae) | Obesity, T2DM, PCOS; sudden extensive + weight loss → consider GI malignancy |
| Erythema nodosum | Septal panniculitis of subcutis; tender pretibial red nodules | Strep, sarcoidosis, IBD, OCPs/sulfa, fungal/TB in endemic contexts |
| Palpable purpura | Leukocytoclastic vasculitis; immune complex–mediated vessel injury | HSP (IgA), cryoglobulins, drug, infection |
| Non-palpable purpura / petechiae | Thrombocytopenia, platelet dysfunction, or fragile vessels | ITP, bone marrow failure, scurvy (perifollicular) |
| Xanthomas | Lipid-laden macrophages | Familial hypercholesterolemia (tendinous), hypertriglyceridemia (eruptive) |
| Pyoderma gangrenosum | Neutrophilic dermatosis; pathergy | IBD, RA—painful ulcer with undermined border |
| Dermatitis herpetiformis | IgA at dermal papillae; intensely pruritic vesicles | Celiac disease |
Viral Skin and Mucocutaneous Disease
| Virus | Classic lesion / distribution | Mechanism pearls |
|---|---|---|
| HSV-1 / HSV-2 | Grouped vesicles on erythematous base; oral vs genital tropism (can overlap) | Latency in sensory ganglia; reactivation; multinucleated giant cells (Tzanck); acyclovir targets viral thymidine kinase–activated pathway |
| VZV | Chickenpox (crops of lesions, different stages) vs shingles (dermatomal vesicles) | Dorsal root ganglion latency; postherpetic neuralgia risk with age |
| HPV | Verrucae (common, plantar, flat); genital warts (6/11); oncogenic types (16/18) | E6/E7 inactivate p53/Rb in high-risk types → cervical/anogenital dysplasia; koilocytes |
| Molluscum contagiosum | Umbilicated pearly papules; poxvirus | Children, athletes, sexually active adults; widespread in HIV → consider immunodeficiency |
HSV and VZV are herpesviruses with latency and reactivation; HPV is a DNA virus of keratinocytes with type-specific oncogenicity; molluscum is a poxvirus producing cytoplasmic inclusions and characteristic umbilication.
Integrating the Differential on Exam Day
When a stem gives a blister, ask: tense vs flaccid, mucosa, age, Nikolsky, immunofluorescence pattern. When it gives a scaly plaque, separate psoriasis (extensors, silvery scale, Auspitz) from eczema (flexural, itch, atopic history) and fungal infection (annular, KOH-positive). When it gives a pigmented lesion, run ABCDE + risk factors and remember BCC/SCC morphology differs from melanocytic atypia. Systemic disease signs are high-yield "one-look" associations that link dermatology to metabolism, vasculitis, and GI disease.
An elderly patient develops tense bullae on flexural skin without oral erosions. Biopsy shows a subepidermal blister with eosinophils, and direct immunofluorescence demonstrates linear IgG along the basement membrane zone. Which structure is the primary autoantibody target?
Desmoglein-3 in keratinocyte desmosomes
Type VII collagen anchoring fibrils only
Filaggrin in the granular layer barrier
Hemidesmosomal BP180/BP230 proteins
A young adult has well-demarcated extensor plaques with silvery scale. Biopsy shows parakeratosis, regular acanthosis, and Munro microabscesses. Which cytokine axis best matches the dominant pathogenic pathway?
Th1/Th17 cytokines including IL-17, IL-23, and TNF-α
Th2 cytokines IL-4 and IL-13 driving IgE class switching
Type I interferon signature identical to cutaneous lupus only
IL-5–dominant eosinophilic folliculitis without T-cell help
A fair-skinned patient has an irregularly pigmented macule with asymmetry and color variegation that has enlarged over 6 months. Which statement best distinguishes melanoma risk assessment from typical basal cell carcinoma presentation?
BCC almost always arises from melanocytes and spreads hematogenously early
Melanoma is assessed with ABCDE morphology and has significant metastatic potential; BCC is usually a pearly telangiectatic papule that rarely metastasizes
Melanoma is confined to sun-protected sites and never relates to UV exposure
SCC is defined by ABCDE criteria, whereas melanoma is always a pearly rolled-border papule
Sections you finish are checked off in the contents.