Overexpression of p53 in disseminated superficial actinic porokeratosis with and without malignant degeneration

1995 ◽  
Vol 131 (3) ◽  
pp. 353-354 ◽  
Author(s):  
L. Puig
Keyword(s):  
Malignant Degeneration ◽  
Disseminated Superficial Actinic Porokeratosis

Disseminated superficial actinic porokeratosis occurring in two members of an Asian family

1997 ◽  
Vol 22 (6) ◽  
pp. 280-282 ◽  
Author(s):  
G. HOLMES ◽  
S. SIDHU ◽  
S.H. WAKELIN ◽  
D. ORTON ◽  
P. MARREN
Keyword(s):  
Disseminated Superficial Actinic Porokeratosis

Malignant degeneration of lichen planus

1971 ◽  
Vol 104 (3) ◽  
pp. 304-307 ◽  
Author(s):  
K. Kronenberg
Keyword(s):  
Lichen Planus ◽  
Malignant Degeneration

Disseminated Superficial Actinic Porokeratosis

2005 ◽  
Vol 67 (2) ◽  
pp. 91-92
Author(s):  
Shinichi Imafuku ◽  
Masutaka Furue
Keyword(s):  
Disseminated Superficial Actinic Porokeratosis

scholarly journals Mevalonate Kinase-Associated Diseases: Hunting for Phenotype–Genotype Correlation

2021 ◽  
Vol 10 (8) ◽  
pp. 1552
Author(s):  
Guilaine Boursier ◽  
Cécile Rittore ◽  
Florian Milhavet ◽  
Laurence Cuisset ◽  
Isabelle Touitou
Keyword(s):  
Severe Disease ◽  
Compound Heterozygous ◽  
Mevalonate Kinase ◽  
Kinase Gene ◽  
New Associations ◽  
Associated Diseases ◽  
Ocular Symptoms ◽  
Disseminated Superficial Actinic Porokeratosis ◽  
Increased Risk ◽  
Genotype Correlation

Mevalonate kinase-associated diseases (MKAD) are caused by pathogenic mutations in the mevalonate kinase gene (MVK) and encompass several phenotypically different rare and hereditary autoinflammatory conditions. The most serious is a recessive systemic metabolic disease called mevalonic aciduria, and the most recently recognized is disseminated superficial actinic porokeratosis, a dominant disease limited to the skin. To evaluate a possible correlation between genotypes and (1) the different MKAD clinical subtypes or (2) the occurrence of severe manifestations, data were reviewed for all patients with MVK variants described in the literature (N = 346), as well as those referred to our center (N = 51). The genotypes including p.(Val377Ile) (homozygous or compound heterozygous) were more frequent in mild systemic forms but were also sometimes encountered with severe disease. We confirmed that amyloidosis was more prevalent in patients compound heterozygous for p.(Ile268Thr) and p.(Val377Ile) than in others and revealed new associations. Patients homozygous for p.(Leu264Phe), p.(Ala334Thr) or compound heterozygous for p.(His20Pro) and p.(Ala334Thr) had increased risk of severe neurological or ocular symptoms. All patients homozygous for p.(Leu264Phe) had a cataract. The variants associated with porokeratosis were relatively specific and more frequently caused a frameshift than in patients with other clinical forms (26% vs. 6%). We provide practical recommendations focusing on phenotype–genotype correlation in MKAD that could be helpful for prophylactic management.

Colorectal adenomas and malignant degeneration: Post-polipectomy follow up

1995 ◽  
Vol 108 (4) ◽  
pp. A514
Author(s):  
F. Negrini ◽  
U. Bonassi ◽  
F. Svanoni ◽  
A. Malesci ◽  
R. Colombi ◽  
...  
Keyword(s):  
Colorectal Adenomas ◽  
Malignant Degeneration
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