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Ehlers-Danlos Syndrome (EDS) Type 1 (Gravis)
AD, collagen 5. Hyperextesible skin, gaping wounds, cigarette-paper scars, molluscoid pseudotumors, calcified subcutaneous nodules, bruises, hypermobile joints with dislocation, hernias, mitral valve prolapse, blue sclerae, Gorlin's sign (tongue reaches nose), absence of lingual frenulum
Ehlers-Danlos Syndrome (EDS) Type 2 (Mitis)
AD, collagen 5. Milder form of type 1
Ehlers-Danlos Syndrome (EDS) Type 3 (Benign hypermobile)
AD, collagen 3. Recurrent joint dislocations
Ehlers-Danlos Syndrome (EDS) Type 4 (Vascular)
AD/AR, collagen 3: Translucent skin with visible venous network, arterial and visceral rupture resulting in early death
Ehlers-Danlos Syndrome (EDS) Type 5 (X-linked)
X-recessive. Lysyl oxidase deficiency. Relatively mild
Ehlers-Danlos Syndrome (EDS) Type 6 (Ocular-scoliotic)
AR, lysyl hydroxylase deficiency. Severe kyphoscoliosis, retinal detachment and other eye abnormalities
Ehlers-Danlos Syndrome (EDS) Type 7 (Arthrochalasis multiplex congenital)
AD/AR, mutations in procollagen amino terminals (AD) or in procollagen aminopeptidase (AR), which cleaves the amino-terminals. Congenital hip dislocation, severe joint hypermobility
Ehlers-Danlos Syndrome (EDS) Type 8 (Periodontitis)
Type 3 collagen. Mild symptoms of EDS with periodontitis and resulting tooth loss
Ehlers-Danlos Syndrome (EDS) Type 9 (Occipital horn Syndrome)
XR Lysyl oxidase. Mild symptoms of EDS with occipital exostoses and hernias
Ehlers-Danlos Syndrome (EDS) Type 10 (Fibronectin)
AR, fibronectin. Ecchymoses and petechiae
Ehlers-Danlos Syndrome (EDS) Type 11 (Large joint hypermobile)
AD, dislocation of large joints
Progeroid EDS
AR, xylosylprotein 4-beta-galactotransferase. Thin, elastic skin, hair and teeth abnormalities, osteopenia, and hypotonia
EDS with congenital adrenal hyperplasia
AR, tenascin-X
Marfan Syndrome
AD, fibrillin 1 and 2. Tall stature, arachnodactyly, pectus excavatum, high-arched palate, joint laxity, ectopia lentis with upward dislocation, aortic dilatation with rupture, mitral valve prolapse, striae, elastosis perforans serpiginosa
Congenital contractural arachnodactyly
AD, fibrillin 2. Long limbs, arachnodactyly, scoliosis, crumpled ear
Cutis laxa
AR, AD (elastin gene), X-Recessive (lysyl oxidase, allelic to EDS 9 and Menkes), acquired (Marshall Syndrome). Loose, pendulous, inelastic skin, deep voice, lung abnormalities, arterial rupture, visceral diverticulae and hernias, and joint dislocation
Pseudoxanthoma elasticum
AR, AD, sporadic, ABCC6 gene (anthracycline resistance protein, ATP-using cell transporter). Fragmented and calcified elastin of skin, eyes, and arteries. Plucked-chicken skin on flexures, yellow papules on mucous membranes, angioid streaks (rupture in Bruch's membrane), gastric hemorrhage, arterial disease
Buschke-Ollendorf Syndrome
AD, Dermatofibrosis lenticularis disseminata (elastomas) and osteopoikilosis (round opacities in bones). Caused by a loss-of-function mutation in LEMD3 (also called MAN1), encodes an inner nuclear membrane protein. LEMD3 interacts with Bone Morphogenetic Protein and activin-TGF beta receptor-activated Smads and antagonizes both signaling pathways
Focal dermal hypoplasia (Goltz Syndrome)
X-linked dominant, male lethal, PORCN gene. Linear atrophy following Blaschko's lines with areas of fat herniation, mucocutaneous papillomas and pits, alopecia, nail dystrophy, tooth abnormalities, musculoskeletal defects (osteopathia striata), colobomas
Lipoid proteinosis
AR extracellular matrix protein 1 gene (ECM1). Scars and yellow papules of the face and orophraynx, eyelid string of pearls, hoarse voice, verrucous nodules of elbows and knees, bean-shaped temporal and hippocampal calcification with occasional seizures. PAS+ deposits histologically
Progeria (Hutchinson-Gilford Syndrome)
AR mutation in lamin A (nuclear envelope protein). Lipoatrophic sclerodermoid skin, alopecia, nail atrophy, craniomegaly with small face, muscle/bone wasting, severe premature atherosclerosis with early death
Beare-Stevenson cutis gyrata Syndrome
Mutations in fibroblast growth factor receptor 2. Craniosynostosis, cutis gyrata, acanthosis nigricans, anogenital anomalies, skin tags, prominent umbilical stump, furrowed palms/soles. Apert Syndrome (same gene): cranial synostosis, syndactyly, severe acne
Berardinelli-Seip congenital lipodystrophy
BSCL2 gene (encodes nuclear lamins). Generalized lipodystrophy, hyperlipemia, hepatomegaly, acanthosis nigricans, elevated basal metabolic rate, non-ketotic insulin-resistant diabetes mellitus
Familial partial lipodystrophy (Dunnigan)
AD, LMNA (nuclear lamins A/C). Symmetric lipoatrophy of trunk and limbs (sparing neck, shoulders, buffalo hump area, genitalia), tuberoeruptive xanthomas, acanthosis nigricans, hypertriglyceridemia
Familial multiple lipomatosis
AD, Multiple lipomas of the upper and lower extremities
Aplasia cutis congenita (ACC)
AD/AR/sporadic: Well-demarcated erosions at birth healing with atrophic, alopecic scars. Adams-Oliver Syndrome: AD, midline scalp ACC with limb hypoplasia. Bart's Syndrome: AD, ACC of lower extremity with dominant dystrophic epidermolysis bullosa. ACC can be caused by teratogens, particularly methimazole.