Skin fragility syndrome

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Skin fragility syndrome
Classification and external resources
OMIM	604536

Skin fragility syndrome (also known as "Plakophilin 1 deficiency") is a cutaneous condition characterized by trauma-induced blisters and erosions.^[1]

It is associated with PKP1.^[2]

[edit] References

1. ^ Rapini, Ronald P.; Bolognia, Jean L.; Jorizzo, Joseph L. (2007). Dermatology: 2-Volume Set. St. Louis: Mosby. ISBN 1-4160-2999-0. 
2. ^ McMillan JR, Haftek M, Akiyama M, et al. (July 2003). "Alterations in desmosome size and number coincide with the loss of keratinocyte cohesion in skin with homozygous and heterozygous defects in the desmosomal protein plakophilin 1". J. Invest. Dermatol. 121 (1): 96–103. doi:10.1046/j.1523-1747.2003.12324.x. PMID 12839569. 

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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

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Categories: Dermatology stubs | Genodermatoses

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