| Vesicular and Bullous |
| Junctional epidermolysis bullosa (Herlitz syndrome/epidermolysis bullosa letalis) | Autosomal recessive Defect in α6β4-integrin | Generalized bullae, perioral granulation tissue, absent/shed nails, dysplastic teeth, respiratory edema | Pyloric atresia |
| Dermatitis herpetiformis | IgA against epidermal transglutaminase | Pruritic symmetric papules, vesicles, and occasionally bullae on extensor surfaces. Associated with Celiac disease | Atrophy of haustra in colon and ileum; atrophic spleen; Secondary hyperparathyroidism. |
| Pemphigus variants (vulgaris, paraneoplastic, erythematosus) | IgG against keratinocyte surface components: desmoglein 3 in vulgaris, multiple antigens in paraneoplastic, desmoglein 1 in erythematosus | Flaccid intraepidermal blisters | Pemphigus vulgaris: rarely intrathoracic solitary benign lymphoma (Castleman tumor) Paraneoplastic pemphigus: non-Hodgkin lymphoma Pemphigus erythematosus: sacroiliitis |
| Connective Tissue |
| Buschke-Ollendorff syndrome (connective tissue nevus syndrome) | Autosomal dominant | Dermatofibrosis lenticularis disseminata, juvenile elastomas; involvement of phalanges, carpals, metacarpals most common | Osteopoikilosis |
| Ehlers-Danlos syndrome | Autosomal dominant Autosomal recessive (types VI and VIIC) Defective collagen (type V most commonly affected) and proteins involved in collagen production | Skin hyperextensibility, cigarette paper texture to scars, hypermobile joints; congenital dislocation of the hip (types I, IV, VIIA, and VIIB); kyphoscoliosis in type VI; dermatosparaxis in type VIIC | Mitral valve prolapse and aortic root dilation; wide joint spaces, arthrochalasis (abnormal joint laxity), calcified subcutaneous tissue |
| Goltz syndrome (focal dermal hypoplasia) | X-linked dominant Defect of PORCN gene | Fat herniation; cutaneous papillomas; punctate atrophy with telangiectasias in lines of Blaschko | Osteopathia striata (linear vertical opacities in metaphyses of the bones); lobster claw deformity of the hand |
| Lipoid proteinosis (hyalinosis cutis et mucosae, Urbach-Wiethe disease) | Autosomal recessive Defect of ECM gene | Hoarse cry at birth; early bullae with later pearly papules on face, eyelid, neck, mucosa, and extremities; alopecia, parotiditis, large wooden tongue, abnormal teeth, seizures | "Bean bag" hippocampal calcifications in the temporal lobe; deposits in vocal cords and other laryngeal structures; thickening of trachea and main stem bronchus |
| Marfan syndrome | Autosomal dominant Defect of fibrillin-1 | Abnormalities of ocular, skeletal, and cardiovascular systems; abnormal dermal collagen architecture on electron microscopy | Kyphoscoliosis; pectus excavatum (depression of sternum), pectus carinatum (projection of sternum); mitral valve prolapse and aortic root dilation |
| Pseudoxanthoma elasticum | Autosomal dominant and recessive forms Defect in ABCC6 gene | Yellow pebbling of skin | Mitral valve insufficiency, and coronary artery disease, peripheral vascular disease; gastric or duodenal hemorrhage |
| Cornification |
| Chondrodysplasia punctata (Conradi-Hünermann-Happle syndrome) | X-linked dominant Defect in emopamil-binding protein (EBP or 3β-hydroxysteroid-δ8-δ7-isomerase) | Ichthyosiform erythroderma in Blaschko lines, patchy alopecia, asymmetric focal cataracts | Stippled epiphyses (chondrodysplasia punctata), unilateral limb shortening, scoliosis |
| Congenital hemidysplasia with ichthyosiform and limb defects (CHILD) | X-linked dominant Defect in NSDHL gene encoding 3β-hydroxysteroid-dehydrogenase | Unilateral ichthyosiform erythroderma | Ipsilateral hypoplasia of ... |