Terminal osseous dysplasia with pigmentary defects

Medical condition

Terminal osseous dysplasia with pigmentary defects

This condition is inherited in an X-linked dominant manner.
Specialty	Dermatology

Terminal osseous dysplasia with pigmentary defects is a cutaneous condition characterized by hyperpigmented, atrophic facial macules.

It has been associated with FLNA.

References

Rapini, Ronald P.; Bolognia, Jean L.; Jorizzo, Joseph L. (2007). Dermatology: 2-Volume Set. St. Louis: Mosby. p. 897. ISBN 978-1-4160-2999-1.
Sun Y, Almomani R, Aten E, et al. (July 2010). "Terminal osseous dysplasia is caused by a single recurrent mutation in the FLNA gene". Am. J. Hum. Genet. 87 (1): 146–53. doi:10.1016/j.ajhg.2010.06.008. PMC 2896768. PMID 20598277.

Classification	D OMIM: 300244 MeSH: C564554

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

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

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

Other

Related topics: Cytoskeletal proteins

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