Terminal osseous dysplasia with pigmentary defects
Encyclopedia
Terminal osseous dysplasia with pigmentary defects is a cutaneous condition characterized by hyperpigmented, atrophic facial macules.
It has been associated with FLNA
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It has been associated with FLNA
FLNA
Filamin-A is a protein that in humans is encoded by the FLNA gene.- Function :Actin-binding protein, or filamin, is a 280-kD protein that crosslinks actin filaments into orthogonal networks in cortical cytoplasm and participates in the anchoring of membrane proteins for the actin cytoskeleton....
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See also
- Corneodermatosseous syndromeCorneodermatosseous syndromeCorneodermatosseous syndrome is an autosomal dominant condition with onset in infancy, characterized by corneal dystrophy, photophobia, diffuse palmoplantar keratoderma, distal onycholysis, skeletal abnormalities, with brachydactyly, short stature, and medullary narrowing of digits.-See also:*...
- Osseous choristoma of the tongueOsseous choristoma of the tongueOsseous choristoma of the tongue is a condition characterized by a nodule on the dorsum of the tongue containing mature lamellar bone without osteoblastic or osteoclastic activity.- See also :* Oral melanosis* Peripheral ameloblastoma* Mucous membrane...
- List of cutaneous conditions