Spectrum of phenotypes associated with mutations 1 – 14 years 12–17 years – Neonatal 23 years – – 5 years Neonatal 6 years – 9 years 12, 14 years 3 years Neonatal – – – – 18 years – – – – – Age of death Age of death + + + – – + – – + – + + + + + +/– + – + – + + + + – + ARVC/D + + + + – + + + + – + + + + + – + + + + + + + + + + PPK + + + + – + + + + – + + + + + – + + + + + + + + – – Woolly Woolly hair/ alopecia – + – – +++ – + + – +++ – + + – – +++ + + – + – – – – – – Skin Skin fragility Carvajal syndrome (37) Mucocutaneous blistering, woolly hair, PPK, ARVC/D (36) ARVC/D PPK, Mucocutaneous blistering, woolly hair, Naxos-Carvajal syndrome (8) PPK, woolly hair, hypotrichosis (this study) PPK, woolly hair, Acantholytic (9) ARVC/D, woolly hair, PPK (35) woolly hair, ARVC/D, Skin fragility/woolly hair syndrome (34) Skin fragility/woolly hair syndrome (33) Hair shaft abnormalities and in lethal cardiomyopathy (32) Acantholytic epidermolysis bullosa (6) Naxos-Carvajal syndrome (31) Skin fragility, alopecia, PPK, ARVC/D (30) ARVC/D alopecia, PPK, Skin fragility, Epidermolytic bullous dermatitis with ARVC/D (29) ARVC/D Epidermolytic bullous dermatitis with Carvajal syndrome (28) Naxos-Carvajal syndrome (27) Acantholytic epidermolysis bullosa (26) /skin fragility syndrome (25) Skin fragility/woolly hair syndrome (11) Carvajal syndrome (this study) Carvajal syndrome Skin fragility/woolly hair syndrome (11) Naxos-Carvajal syndrome with absence of premolars (24) Naxos-Carvajal syndrome with hypo/oligodontia (23) Naxos-Carvajal syndrome with leukonychia, oligodontia (22) Naxos-Carvajal syndrome with leukonychia, oligodontia (21) Striate PPK (20) Striate PPK (17), LDAC (18), ARVC (19) ARVC Striate PPK (17), LDAC (18), Original designation, reference Recessive Recessive Recessive Recessive Recessive Recessive Recessive Recessive Recessive Recessive Recessive Recessive Recessive Recessive Recessive Recessive Recessive Recessive Recessive (?) Recessive Dominant Dominant Dominant Dominant Dominant Dominant Inheritance

Exon 24 Exon 24 Exon 24 Exon 24 Exon 24 Exon 24 Exon 24 Exon 24 Exon 24 Exon 24 Exon 24 Exon 24 Exon 24 Exon 24 Exon 24 Exon 24 Exon 24 Exon 15 Exon 23 Exon 23 Exon 23 Exon 23 Exon 23 Exon/intron20 Exon 24 Exon 18 Exon 16 Exon 15 Exon 17 Exon 9 Exon7 Exon 14 Exon 14 Exon 14 Exon 13 Exon 8 Intron 7 Location in gene p.T2104Qfs*12 p.S2594Pfs*8 p.A2655D p.R2586* p.K2542Sfs*19 p.R2522Sfs*39 p.F2416Lfs*14 p.G2375R p.R2366C p.R2366H p.K2523Dfs*37 p.I2241Ffs*3 p. L2031Gfs*29 p.E2193K p.R1934* p.T2104Qfs*12 p. G1737Tfs*7 p.Q673* p.K1593Sfs*5 p.Q1446* p.Q1301* p.R1267* p.N1324fs*23 p.L959Mfs*5 p.R2366C p.H839fs*23 p.S711Cfs*4 p.Q664* p.C809* p.T356K p.N287K p.I608_ Q609insQSQFTDARK p.S597L p.L583P p.T564I p.Q331* Amino acid change : mutation constellations and skin related phenotypes Desmoplakin : mutation constellations and skin related c.6310delA c.7780delT c.7964C>A c.7756C>T c.7623delG c.7566_7567delinsC c.7248delT c.7123G>C c.7096C>T c.7097G>A c.7567_7570delAAGA c.6721_6722delAT c.6091_6092delTT c.6577G>A c.5800C>T c.6310delA c.5208_5209delAG c.2017C>T c.4778_4790del c.4336C>T c.3901C>T c.3799C>T c.3971_3974delATAA c.2876_2877+3del5 c.7096C>T c.2516_2519delACTC c.2131_2132delAG c.1990C>T c.2427T>A c.1067C>A c.861G>T 30 bp insertion c.1790 C>T c.1748 T>C c.1691C>T c.991C>T c.DNA change c.DNA c.939+1A>G Mutation constellation 9 8 7 6 5 4 3 2 1 26 25 24 23 22 21 20 19 18 17 16 15 14 13 12 11 10 No. ARVC: arrythmogenic right ventricular cardiomyopathy; ARVC/D: arrythmogenic right ventricular dysplasia /cardiomyopathy; LDAC: left-dominant cardiomyopathy; PPK: palmoplantar ; ARVC/D: arrythmogenic right ventricular cardiomyopathy; ARVC: +: present; +++: very severe; +/–: uncertain finding; –: not present. Table SI. Table

Acta Derm Venereol 95