Carvajal syndrome

Striate palmoplantar keratoderma with woolly hair and cardiomyopathy
Classification and external resources
OMIM	605676

Carvajal syndrome (also known as "Striate palmoplantar keratoderma with woolly hair and cardiomyopathy"^[1] and "Striate palmoplantar keratoderma with woolly hair and left ventricular dilated cardiomyopathy,"^[2]) is a cutaneous condition inherited in an autosomal recessive fashion, and due to a defect in desmoplakin.^[1] Striate palmoplantar keratoderma, woolly hair, and left ventricular dilated cardiomyopathy has been described in both autosomal dominant and autosomal recessive forms, but only the recessive forms have a clear association with dilated cardiomyopathy.^[2]^:513 The skin disease presents as a striate palmoplantar keratoderma with some nonvolar involvement, particularly at sites of pressure or abrasion.^[2]^:513

References

^ ^a ^b Rapini, Ronald P.; Bolognia, Jean L.; Jorizzo, Joseph L. (2007). Dermatology: 2-Volume Set. St. Louis: Mosby. pp. 811. ISBN 1-4160-2999-0.
^ ^a ^b ^c Freedberg, et al. (2003). Fitzpatrick's Dermatology in General Medicine. (6th ed.). McGraw-Hill. ISBN 0071380760.

Cytoskeletal defects

Microfilaments

Myofilament

Actin	Hypertrophic cardiomyopathy 11 · Dilated cardiomyopathy 1AA · DFNA20 · Nemaline myopathy 3

Myosin	Elejalde syndrome · Hypertrophic cardiomyopathy 1, 8, 10 · Usher syndrome 1B · Freeman–Sheldon syndrome · DFN A3, 4, 11, 17, 22; B2, 30, 37, 48 · May-Hegglin anomaly

Troponin	Hypertrophic cardiomyopathy 7, 2 · Nemaline myopathy 4, 5

Tropomyosin	Hypertrophic cardiomyopathy 3 · Nemaline myopathy 1

Titin	Hypertrophic cardiomyopathy 9

Other

Fibrillin (Marfan syndrome, Weill-Marchesani syndrome, ) · Filamin (FG syndrome 2, Boomerang dysplasia, Larsen syndrome, Terminal osseous dysplasia with pigmentary defects)

1/2	Keratinopathy (keratosis, keratoderma, hyperkeratosis): KRT1 (Striate palmoplantar keratoderma 3, Epidermolytic hyperkeratosis, IHCM) · KRT2E (Ichthyosis bullosa of Siemens) · KRT3 (Meesmann juvenile epithelial corneal dystrophy) · KRT4 (White sponge nevus) · KRT5 (Epidermolysis bullosa simplex) · KRT8 (Familial cirrhosis) · KRT10 (Epidermolytic hyperkeratosis) · KRT12 (Meesmann juvenile epithelial corneal dystrophy) · KRT13 (White sponge nevus) · KRT14 (Epidermolysis bullosa simplex) · KRT17 (Steatocystoma multiplex) · KRT18 (Familial cirrhosis) · KRT81/KRT83/KRT86 (Monilethrix) · Naegeli–Franceschetti–Jadassohn syndrome · Reticular pigmented anomaly of the flexures

3	Desmin: Desmin-related myofibrillar myopathy · Dilated cardiomyopathy 1I GFAP: Alexander disease Peripherin: Amyotrophic lateral sclerosis

4	Neurofilament: Parkinson's disease · Charcot–Marie–Tooth disease 1F, 2E · Amyotrophic lateral sclerosis

5	Laminopathy: LMNA (Mandibuloacral dysplasia, Dunnigan Familial partial lipodystrophy, Emery-Dreifuss muscular dystrophy 2, Limb-girdle muscular dystrophy 1B, Charcot–Marie–Tooth disease 2B1) · LMNB (Barraquer–Simons syndrome) · LEMD3 (Buschke–Ollendorff syndrome, Osteopoikilosis) · LBR (Pelger-Huet anomaly, Hydrops-ectopic calcification-moth-eaten skeletal dysplasia)

Microtubules

Kinesin	Charcot–Marie–Tooth disease 2A · Hereditary spastic paraplegia 10

Dynein	Primary ciliary dyskinesia · Short rib-polydactyly syndrome 3 · Asphyxiating thoracic dysplasia 3

Other	Tauopathy · Cavernous venous malformation

Membrane

Spectrin: Spinocerebellar ataxia 5 · Hereditary spherocytosis 2, 3 · Hereditary elliptocytosis 2, 3

Ankyrin: Long QT syndrome 4 · Hereditary spherocytosis 1

Catenin

APC (Gardner's syndrome, Familial adenomatous polyposis) · plakoglobin (Naxos syndrome) · GAN (Giant axonal neuropathy)

Other

desmoplakin: Striate palmoplantar keratoderma 2 · Carvajal syndrome · Arrhythmogenic right ventricular dysplasia 8

plectin: Epidermolysis bullosa simplex with muscular dystrophy · Epidermolysis bullosa simplex of Ogna

plakophilin: Skin fragility syndrome · Arrhythmogenic right ventricular dysplasia 9

centrosome: PCNT (Microcephalic osteodysplastic primordial dwarfism type II)

see also cytoskeletal proteins
B structural (perx, skel, cili, mito, nucl, sclr) · DNA/RNA/protein synthesis (drep, trfc, tscr, tltn) · membrane (icha, slcr, atpa, abct, othr) · transduction (iter, csrc, itra), trfk

Carvajal syndrome

See also

References