Linear Porokeratosis

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UMLS 70 C0302319 C2931908

GARD : ²⁰ Linear porokeratosis is a rare skin condition characterized by streaks of reddish-brown patches surrounded by a ridge-like border. The patches usually develop in infants or young children, but they sometimes develop in adults. Patches may be on one area of the body (localized) or on multiple areas (generalized). They usually develop in a pattern over the skin known as the " lines of Blaschko," and most commonly occur on the arms or trunk. Some people experience itching or pain where the patches occur. Linear porokeratosis is thought be a form of disseminated superficial actinic porokeratosis (DSAP). Researchers think that people with linear porokeratosis may have one inherited mutation in a gene that causes DSAP. It is thought that a second mutation in that gene is acquired (a somatic mutation ), occurring in only some cell lines. This may cause the presence of streaks of patches, rather than more widespread patches. Treatment options depend on each person's symptoms. There are no specific recommendations for treatment because no randomized clinical trials have been done. Options may include topical therapies, oral retinoids, cryotherapy, electrodessication, and surgery. Linear porokeratosis can progress to skin cancer ( squamous cell and basal cell carcinoma ), so sun protection and watching for changes within patches are recommended.

MalaCards based summary : Linear Porokeratosis, also known as congenital facial linear porokeratosis, is related to porokeratosis 1, multiple types and porokeratosis. An important gene associated with Linear Porokeratosis is FDPS (Farnesyl Diphosphate Synthase), and among its related pathways/superpathways are Terpenoid backbone biosynthesis and Peroxisome. Related phenotypes are Increased shRNA abundance (Z-score > 2) and Increased shRNA abundance (Z-score > 2)

#	Description	GenomeRNAi Source Accession	Score	Top Affiliating Genes
1	Increased shRNA abundance (Z-score > 2)	GR00366-A-105	9.83	MVD
2	Increased shRNA abundance (Z-score > 2)	GR00366-A-12	9.83	MVD
3	Increased shRNA abundance (Z-score > 2)	GR00366-A-139	9.83	MVD
4	Increased shRNA abundance (Z-score > 2)	GR00366-A-203	9.83	MVD
5	Increased shRNA abundance (Z-score > 2)	GR00366-A-213	9.83	PMVK
6	Increased shRNA abundance (Z-score > 2)	GR00366-A-54	9.83	MVD
7	Increased shRNA abundance (Z-score > 2)	GR00366-A-55	9.83	MVD
8	Increased shRNA abundance (Z-score > 2)	GR00366-A-57	9.83	MVD
9	Increased shRNA abundance (Z-score > 2)	GR00366-A-60	9.83	PMVK
10	Increased shRNA abundance (Z-score > 2)	GR00366-A-66	9.83	PMVK
11	Increased shRNA abundance (Z-score > 2)	GR00366-A-77	9.83	MVD
12	Increased shRNA abundance (Z-score > 2)	GR00366-A-81	9.83	PMVK
13	Increased shRNA abundance (Z-score > 2)	GR00366-A-85	9.83	MVD PMVK
14	Increased shRNA abundance (Z-score > 2)	GR00366-A-98	9.83	MVD
15	Reduced mammosphere formation	GR00396-S	8.92	FDPS MVD MVK PMVK

Search Clinical Trials , NIH Clinical Center for Linear Porokeratosis

Search GEO for disease gene expression data for Linear Porokeratosis.