Table 1.
Case (reference) | Year | Sex | Age | GA (weeks) | BW (kg) | Clinical symptoms | Gene mutation |
---|---|---|---|---|---|---|---|
19 | 2006 | F | 25 days | Term | Unknown | Diffuse cutaneous mastocytosis | Not investigated |
210 | 2009 | M | 33 days | Term | 3.5 | Diffuse cutaneous mastocytosis | Not investigated |
316 | 2010 | F | 15 hours | Term | 3.1 | Diffuse cutaneous mastocytosis | Not investigated |
411 | 2010 | F | 3 hours | 40 | 3.25 | Diffuse cutaneous mastocytosis | Not investigated |
512 | 2012 | F | 4 days | Term | Unknown | Diffuse cutaneous mastocytosis | Not investigated |
613 | 2014 | M | 2 hours | Term | Unknown | Diffuse cutaneous mastocytosis | Not investigated |
7*14 | 2016 | F | 4 days | 36+1 | 2.6 | Erythema bullous nodule | Exon 17: 2446-2447 GA>TT (p.D816F) |
8*14 | 2016 | F | 4 days | 36+1 | 2.45 | Same as case 7 | Same as in case 7 |
915 | 2017 | M | 11 months | Term | Unknown | Urticaria pigmentosa | KIT, D816V (+) |
10 (current report) | 2019 | M | 3 hours | 38 | 3.19 | Diffuse cutaneous mastocytosis | Exon 17; c.2447A > T (p.D816V) |
GA, gestational age; BW, birth weight; F, female; M, male.
*Cases 7 and 8 are twins.