Parent Terms |
Term With Siblings |
Child Terms |
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Congenital Facial Linear Porokeratosis
Craniosynostosis, Anal Anomalies, and Porokeratosis
Porokeratosis 1, Multiple Types
Porokeratosis 2, Palmar, Plantar, and Disseminated Type
Porokeratosis 3, Multiple Types
Porokeratosis 6, Multiple Types
Porokeratosis 7, Multiple Types
Porokeratosis 9, Multiple Types
Porokeratosis, Disseminated Superficial Actinic, 3
Porokeratosis, Disseminated Superficial Actinic, 4
Porokeratosis, Disseminated Superficial Actinic, 8 Porokeratosis is a rare skin disorder characterized by one or more annular plaques with a surrounding raised horny border that spreads centrifugally. Variants of porokeratosis have been described that differ in morphologic shape, distribution, and clinical course (Schamroth et al., 1997). However, as noted by Sybert (2010), the existence of several families with expression of more than one variant of porokeratosis among members, and individuals expressing more than one variant, suggest that the distinctions among these variants may be artificial. Disseminated superficial actinic porokeratosis (DSAP) is the most common subtype of porokeratosis. It is characterized by multiple small, annular, anhidrotic, keratotic lesions that are located predominantly on sun-exposed areas of the skin, such as the face, neck, and distal limbs. The lesions typically begin to develop in adolescence and reach near-complete penetrance by the third or fourth decade of life. POROK8 is caused by heterozygous mutation in the SLC17A9 gene on chromosome 20q13. (OMIM)
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Synonyms |
Exact Synonyms: |
POROK8
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SLC17A9-RELATED CONDITION
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porokeratosis 8, disseminated superficial actinic type
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Primary IDs: |
MIM:616063
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