Case (reference) | 1 [ 9 ] | 2 [ 10 ] | 3 [ 11 ] | 4 [ 12 ] | 5 [ 13 ] | 6 [ 14 ] | 7 [ 15 ] | 8 [ 8 ] |
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Age at presentation (years) | Newborn | 19 | 14 | 17 | 12 | 5 | Newborn | 21 |
Sex | F | M | M | F | F | F | F | M |
Clinical features | EN following lines of Blaschko, rhabdomyosarcoma, micropolycystic kidneys and growth retardation | EN, urothelial-cell carcinoma of the bladder | Multiple EN, hypotonia of the right arm, thymoma, cystic lesions in hand and cervical bones | Systemic EN following the lines of Blaschko sharply bounded by ventral midline, scoliosis | Extensive EN and mild facial dysmorphy | Systematized EN, seizures, delayed language and psychomotor development, brain abnormalities | Verrucous hyperpigmented streaks sharply demarcated at midline, seizures and brain abnormalities (6 months) | Multiple EN, multiple spinal tumors, lipoma, duplic renal arteries, ectasia of aorta, scoliosis |
Gene mutation | KRAS | HRAS | HRAS | FGFR3 | FGFR3 | FGFR3 | FGFR3 | PIK3CA |
c.35G > A (p.Gly12Asp) | c.34G > A (p.Gly12Ser) | c.37G > C (p.Gly13Arg) | c.742C > T (p.Arg248Cys) | c.742C > T (p.Arg248Cys) | c.742C > T (p.Arg248Cys) | c.746C > G (p.Ser249Cys) | c.3140A > T (p.His1047Leu) | |
Tissue investigated: | ||||||||
-carrying mutation | Epidermal component EN, rhabodmyosarcoma | Epidermal nevus, 3 urothelial-cell carcinomas, lung metastasis, normal lung tissue, blood leukocytes and non-malignant urothelium | Both EN and thymoma | EN, oral mucosa and leucocytes | Verrucous EN | EN, blood leucocytes | EN, the unaffected skin, urothelial cells | Spinal tissue (neurofibromas) |
-mutation absent | Dermal component EN, normal skin, blood | Bladder-muscle layer, 2 cutaneous angiomas | Lymphocytes | Hair roots, normal skin | Blood, buccal brushings, hair roots | Normal skin | Blood leucocytes | Dermis (posterior thoracic region) |