| Table 2-4 Epidermolysis Bullosa |
| | EB Subtype | | Inh | | Gene | | Clinical Features |
EB SIMPLEX (EBS)
Split: Epidermal Basal Layer |
| | Dowling-Meara
(EBS Herpetiformis) | | AD | | K5/K14 | | Onset at birth, grouped or herpetiform blisters (figurate), significant mucosal membrane and laryngeal/esophageal involvement (± hoarseness), nail dystrophy, confluent PPK, scarring, early death |
| | | | | | | | EM: clumped tonofilaments in basal keratinocytes |
| | Weber-Cockayne
(Localized) | | AD | | K5/K14 | | Onset typically childhood/adolescence, palmoplantar bullae/erosions, heal without scarring |
| | Koebner
(Generalized) | | AD | | K5/K14 | | Generalized bullae at birth, PPK, nail dystrophy, mucosal erosions, heals without scarring |
| | EBS Muscular Dystrophy | | AR | | Plectin | | Widespread bullae at birth, muscular dystrophy, scarring, hair/nail/tooth/oral disease, early death |
| | EBS Mottled Pigmentation | | | | | | Resembles localized and generalized EBS + reticulated hyperpigmentation over trunk |
JUNCTIONAL EB (JEB)
Split: Basement Membrane (Lamina Lucida) |
| | Herlitz
(EB Lethalis)
(Premature termination codon) | | AR | | Laminin 5
(laminin-332) | | Severe, widespread bullae, nonhealing exuberant granulation tissue (perioral, axillae, neck), enamel defects, absent nails, mucosal involvement (respiratory/GI tract with hoarseness), early death |
| | Non-Herlitz
(Generalized Atrophic Benign EB or GABEB) | | AR | | Laminin 5
or BPAG2 (BP180) | | Widespread bullae at birth, heal with atrophic scars, mild oral involvement, scarring alopecia, nail dystrophy, improves with time |
| | JEB with Pyloric Atresia | | AR | | α6β4 integrin | | Severe congenital blistering, hydronephrosis, pyloric atresia, mucosal erosions |
DYSTROPHIC EB (DEB)
Split: Dermal (Sublamina Densa) |
| | Hallopeau-Siemens
Recessive DEB (RDEB-HS)
(Premature termination codon) | | AR | | Type VII collagen | | Severe widespread bullae at birth, heals with atrophic scarring (on hands/feet → “mitten deformity”), milia, nail dystrophy, mucosal strictures, oral, esophageal, cutaneous SCCs |
| | Non-Hallopeau-Siemens
(RDEB-nHS) | | AR | | Type VII collagen | | Skin changes localized to acral bony prominences, Hallopeau-Siemens symptoms but less severe |
| | Cockayne-Touraine
(DDEB-CT) | | AD | | Type VII collagen | | Bullae mainly over extremities, heal with milia/atrophic scars/keloids, nail dystrophy |
| | Pasini Variant
(DDEB-P) | | AD | | Type VII collagen | | Similar to Cockayne subtype + albopapuloid lesions (white perifollicular papules, slowly enlarge) |
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