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, a form of ichthyosis, 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

See also

• X-linked ichthyosis
• List of cutaneous conditions

References

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v · d · eCytoskeletal 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 (Boomerang dysplasia, Larsen syndrome, Terminal osseous dysplasia with pigmentary defects) IF 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 Other catenin: Gardner's syndrome/Familial adenomatous polyposis · Naxos syndrome desmoplakin: Striate palmoplantar keratoderma 2 · Carvajal syndrome · Arrhythmogenic right ventricular dysplasia 8 plakophilin: Skin fragility syndrome · Arrhythmogenic right ventricular dysplasia 9 Giant axonal neuropathy 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