Table 1.
Case | Year | First author | Age, years | Gender Skin histology | PC | Family history | RC | Mutation | |
---|---|---|---|---|---|---|---|---|---|
1 | 1990 | Ishiko [16] | 46 | M | ff, td, ac | – | – | – | UK |
2 | 2000 | Aoki [6] | 65 | M | ff, td | – | +s | – | UK |
3 | 2001 | Takahashi [17] | 53 | F | ff | – | +ff | + | UK |
4 | 2003 | Ishihara [18] | 52 | F | ff, td, ac | – | +s | UK | |
5 | 2004 | Kawasaki [7] | 26 | M | ff | – | +s | – | E11 |
6 | UK | M | NT | – | fath. of 5 | – | E11 | ||
7 | 2005 | Nagashima [19] | 51 | F | NF | – | – | + | NF |
8 | 2007 | Murakami T [14] | 55 | UK | NF | – | – | + | E11 |
9 | 2007 | Gunji [11] | 30 | F | NF | + | +p | – | E13 |
10 | 38 | F | NF | + | +p | – | E11 | ||
11 | 40 | F | NF | + | +p, r | – | E6 | ||
12 | 37 | F | NF | + | +p, r | – | I5 | ||
13 | 38 | F | NF | + | +p, r | – | E12 | ||
14 | 2007 | Saito [20] | 35 (Ch) | M | pff | – | – | – | UK |
15 | 2008 | Sadamasa [21] | 35 | M | ff, td | + | +s | – | UK |
16 | 2008 | Misago [22] | 67 | F | ff, td | – | +s | – | E13 |
17 | 38 | F | not ff, td | + | dau. of 16 | – | E13 | ||
18 | 35 | F | not ff, td | + | dau. of 16 | – | E13 | ||
19 | 2008 | Kim [23] | 31 (Ko) | F | pff, td | + | +p | – | E14 |
20 | 2009 | Imada [8] | 68 | M | ff | – | +s, r | + | E12 |
21 | 2009 | Miyasaka [24] | 34 | F | trunk, NT | + | +p | – | E12 |
22 | 2009 | Ando [25] | 58 | F | ff, ac? | + | +p | – | E12 |
23 | 2009 | Ishii [26] | 29 | F | NF | + | +p | – | UK |
24 | 40 | M | NF | + | bro. of 23 | – | E6 | ||
25 | 72 | M | NF | + | fath. of 23 | – | UK | ||
26 | 2009 | Koga [27] | 41 | F | NF | + | +ff | – | E12 |
27 | UK | M | ff | – | fath. of 26 | – | E12 | ||
28 | 2009 | So [28] | 57 (Ch) | F | ff | + | + p | – | E13? |
29 | 31 | F | NF | + | dau. of 28 | – | E13? | ||
30 | 28 | F | NF | + | dau. of 28 | – | E13? | ||
31 | 2010 | Hayashi [29] | 39 | F | NF | + | – | – | E13 |
32 | 2011 | Nakagawa [30] | 30’ | F | NF | + | +p, r | – | E12 |
33 | 30’ | M | NF | + | bro. of 32 | – | UK | ||
34 | 2011 | Sakairi [31] | 41 | F | NF | + | +ff | – | E12 |
35 | 55 | F | NF | + | +p | – | E12 | ||
36 | 2011 | Park [9] | 43 (Ko) | M | ff, td | – | +s, p | – | E11 |
37 | 2011 | Shin [10] | 46 (Ko) | F | NF | + | dau. of 37 | + | E5 |
38 | 69 | F | NF | + | +p, r | + | E5 | ||
39 | 2012 | Nagashima [32] | 69 | F | NF | + | – | + | E5 |
40 | 2012 | Ishizuka [33] | 45 | F | NT | + | +p | – | E11 |
41 | 2012 | Kim [12] | 40 (Ko) | F | not ff | + | +p, r | – | E6 |
42 | UK | M | UK | + | fath. of 41 | + | UK | ||
43 | UK | F | NF | + | sis. of 41 | – | E6 | ||
44 | UK | F | NF | + | sis. of 41 | – | E6 | ||
45 | 2012 | Kashiwada [34] | 60 | F | NT? | + | +s, p | – | E11 |
46 | 32 | M | NT? | + | son of 39 | – | E11? | ||
47 | 2012 | Tobino [35] | 43 | F | NF | + | +p | +* | E12 |
48 | UK | M | NF | + | son of 47 | – | UK | ||
49 | 2013 | Ema [36] | 53 | F | not ff | + | – | + | E6 |
50 | 2013 | Nishii [13] | 33 | F | not ff | + | +s, p | – | I5 |
51 | UK | M | extrm., NT | + | fath. of 50 | – | I5? | ||
52 | UK | M | UK | + | uncle of 50 | – | UK | ||
53 | UK | F | UK | + | G.M. of 50 | – | UK | ||
54 | 2013 | Haga [37] | 61 | F | NF | + | +p | – | E11 |
55 | 29 | M | NF | + | son of 54 | – | E11 | ||
56 | UK | M | NF | + | bro. of 54 | – | UK | ||
57 | This report | Murakami Y | 37 | F | ff | + | NF | + | UK |
58 | 35 | M | ff | + | +p | + | UK | ||
59 | UK | F | UK | + | moth. of 58 | – | UK | ||
60 | UK | F | UK | + | aunt of 58 | – | UK | ||
61 | UK | M | UK | + | uncle of 58 | – | UK | ||
62 | UK | M | UK | + | G.F. of 58 | – | UK |
Ch = Chinese; Ko = Korean; UK = unknown; ff = fibrofolliculoma; td = trichodiscoma; ac = acrochordon; NF = no cutaneous change could be found; NT = not tested; extrm. = extremity; s = skin lesion; p = pulmonary lesion; r = renal lesion; dau. = daughter; sis. = sister; bro. = brother; fath. = father; G.M. = grandmother; moth. = mother; G.F. = grandfather; E = exon; I = intron.
# Diagnosed as renal cyst by abdominal sonography without pathological examination.
Diagnosed as angiomyolipoma by CT images without pathological examination.