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. 2014 Feb 7;6(1):20–28. doi: 10.1159/000358216

Table 1.

Asian cases of BHD except Kunogi et al. [2] and Furuya and Nakatani [3]

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.