Table 1.
Description of patients with deep/systemic dermatophytosis reported in the literature.
| Case No. |
Age at Onset (Years) | Age (Years) | Sex | Country of Origin | Consanguinity/ Family Member Affected |
Organs Affected | Treatments | Dx/Agent | Special Tests |
|---|---|---|---|---|---|---|---|---|---|
| 1 [56] | NR | NR | M | Algeria | Skin | T. faviforme | |||
| 2 [27] | NR | 11 | M | Algeria | Yes/- | NR | |||
| 3 [27] | NR | 13 | M | Algeria | NS/Brother | NR | |||
| 4 [25,48] | NR | NR | NR | Morocco | Skin, hairy skin, lymph nodes | T. violaceum | |||
| 5 [57] | NR | NR | NR | Morocco | Skin | T. violaceum | |||
| 6 [58] | NR | 18 | M | Algeria | Skin, nails | T. verrucosum | |||
| 7 [58] | NR | 26 | M | Algeria | NS/Brother | Skin nails | T. verrucosum | ||
| 8 [31] | 14 | 22 | F | Algeria | NS/Siblings | Skin involvement | T. schoenleinii | ||
| 9 [31] | 26 | 35 | M | Algeria | NR | NR | T. verrucosum | ||
| 10 [25,59] | NR | NR | NR | NS/Cousin | NR | ||||
| 11 [30] | NR | 35 | M | Tunisia | NR | Skin, nails |
T. violaceum
T. schoenleinii |
||
| 12 [52] | NR | 43 | M | Japan | NR | Onyxis | NR | T. mentagrophytes var. interdigitale | NR |
| 13 [59] | 6 | 11 | M | Algeria | Yes/- | Tinea, Skin involvement, onyxis | T. violaceum | ||
| 14 [59] | 11 | 21 | M | Algeria | Yes/Brother | Tinea, Skin involvement, onyxis | |||
| 15 [59] | 4 | M | Algeria | Yes/Brother | Tinea | ||||
| 16 [59] | 15 | 41 | M | Algeria | Yes/Brother | Tinea, Skin involvement, onyxis | T. verrucosum | ||
| 17 [59] | 6 | 25 | M | Algeria | Yes/Brother | Tinea, Skin involvement, onyxis | T. verrucosum | ||
| 18 [60] | 6 | 42 | M | Tunisia | Skin, nails | ||||
| 19 [25,61] | T. violaceum | ||||||||
| 20 [33] | 9 | 40 | F | Algeria | Yes/- | Skin, hairy skin, nails, lymph nodes | Griseofulvin | Culture/T. rubrum | M.CARD9 Q289X/Q289X |
| 21 [25,62] | |||||||||
| 22 [43] | 6 | 53 | M | Algeria | Yes/Cousin | Skin involvement, hairy skin, nails, lymph nodes | Griseofulvin Econazole itraconazole |
Culture/ T. violaceum |
M.CARD9 Q289X/Q289X |
| 23 [49] | 2 | 28 | M | Algeria | NS/Cousin | Skin, hairy skin, nails, lymph nodes, brain | Griseofulvin Ketoconazole Itraconazole |
Culture/ T. violaceum |
NR |
| 24 [48] | 5 | 15 | M | Morocco | NS/Brother | Skin, hairy skin, nails, lymph nodes, hypogonadism | Griseofulvin | Culture/ T. violaceum |
IDR Tb + |
| 25 [48] | 6 | 11 | M | Morocco | NS/Brother | Skin, hairy skin, nails, lymph nodes, hypogonadism | Ketoconazole, Griseofulvin | T. tonsurans | IDR TF + IDR CD + IDR Tb + |
| 26 [48] | 22 | 23 | M | Morocco | NR | Skin, hairy skin, nails | Griseofulvin | Culture/ T. violaceum |
NR |
| 27 [48] | 22 | 27 | M | Morocco | NS/Cousin | Skin, nails | T. violaceum | IDR Tb + | |
| 28 [48] | NR | NR | M | Morocco | NS/Cousin | Skin, nails, lymph nodes, death | Griseofulvin | Culture/ T. violaceum |
IDR Tb + |
| 29 [48] | 10 | 20 | M | Morocco | NS/Cousin | Skin, hairy skin, nails, lymph nodes, lung, deterioration of general condition | Griseofulvin | Culture/ T. violaceum |
IDR CD + IDR Tb + |
| 30 [48] | 29 | 30 | F | Morocco | NR | Skin, nails, lymph nodes, death | Griseofulvin | Culture/ T. violaceum |
IDR Tb + |
| 31 [48] | 10 | 25 | F | Morocco | NR | Skin, hairy skin, nails | Griseofulvin Ketoconazole |
Culture/ T. violaceum |
IDR TF − IDR CD − IDR Tb − |
| 32 [44] | 8 | 34 | M | Algeria | Yes/3 siblings | Skin, hairy skin, nails, death | NR | Culture/ T. violaceum |
NR |
| 33 [63] | 4 | 42 | NR | Algeria | NS/Brother | Tinea, skin involvement, onyxis | T. violaceum | ||
| 34 [64] | NR | 29 | M | Algeria | Yes/- | Skin, hairy skin, nails, lymph nodes, death | Griseofulvin ketoconazole topical |
Culture/ T. violaceum |
IDR TF −, IDR CD −, IDR Tb + M.CARD9 Q289X/Q289X |
| 35 [65] | NR | NR | NR | NR | NR | NR | NR | T. violaceum T. rubrum |
NR |
| 36 [66] | 50 | 60 | M | NR | NR | Skin, nails, lymph nodes | Griseofulvin itraconazole fluconazole terbinafine |
T. violaceum T. rubrum |
NR |
| 37 [67] | 18 | 23 | M | NR | NR | Skin, hairy skin, nails, lymph nodes | Itraconazole | T. verrucosum | IDR Tb - |
| 38 [29] | 1 | 8 | F | Tunisia | Yes/Brother | Skin, lymph nodes, nails, hairy skin | Griseofulvin Itraconazole Ketoconazole Terbinafine Surgical resection |
Culture/ M. canis T. violaceum |
IDR TF − IDR CD − IDR Tb + |
| 39 [29] | 1 | 7 | F | Tunisia | Yes/Brother | Skin, hairy skin, nails | Griseofulvin Itraconazole Topical antifungals Surgical resection |
Culture/ M. canis T. violaceum |
IDR TF − IDR CD − IDR Tb + |
| 40 [29] | 1 | 5 | F | Tunisia | Yes/Brother | Skin, hairy skin, nails, lymph nodes | Griseofulvin Itraconazole Ketoconazole Fluconazole Topical antifungals Antibiotics Surgical resection |
Culture/ M. canis T. violaceum |
IDR TF − IDR CD − IDR Tb + |
| 41 [47] | 18 | 38 | M | Algeria | NS/1 brother with onychomycosis of hands and feet | Skin, hairy skin, nails | Griseofulvin Fluconazole |
NR | IDR Tb + |
| 42 [47] | NR | NR | M | Algeria | NS/2 siblings | Skin, hairy skin, nails | Griseofulvin | Filaments | IDR Tb − |
| 43 [32] | NR | NR | NR | Algeria | NR | Skin, hairy skin, nails, death | Griseofulvin | T. schoenleinii | IDR TF −, IDR Tb + |
| 44 [32] | NR | NR | NR | Algeria | NR | Skin, hairy skin, nails, death | NR | T. violaceum | IDR TF −, IDR Tb + |
| 45 [68] | 16 | 52 | M | Algeria | NR | Skin, hairy skin, nails, lymph nodes, brain | Ketoconazole Fluconazole Cefotaxime Amikacin Phenobarbital Metronidazole |
Filaments | IDR Tb − |
| 46 [69] | 3 | 27 | F | Tunisia | Yes/- | Skin, nails, lymph nodes | Itraconazole | T. violaceum | NR |
| 47 [28] | 8 | 56 | M | Algeria | Yes/Sibling | Skin, hairy skin, nails | Griseofulvin | Culture/ T. violaceum |
M.CARD9 Q289X/Q289X |
| 48 [28] | 19 | 43 | M | Algeria | Yes/Sibling | Skin, hairy skin, nails, lymph nodes | Griseofulvin Fluconazole |
Biopsies with fungal hyphae | M.CARD9 Q289X/Q289X |
| 49 [28] | 21 | 40 | M | Algeria | Yes/Sibling | Skin, hairy skin, gastrointestinal (anal stenosis) | Griseofulvin Fluconazole Colostomy surgery Terbinafine |
Biopsies with fungal hyphae | M.CARD9 Q289X/Q289X |
| 50 [28] | NR | 28 | M | Algeria | Yes/Sibling | Skin, hairy skin, death | NR | Biopsies with fungal hyphae | NR |
| 51 [28] | NR | 40 | M | Morocco | Yes/Sister | Skin, hairy skin, nails, lymph nodes, bone (Osteolysis of 1st and 2nd left toes) |
Terbinafine Voriconazole Posaconazole Liposomal amphotericin B Interferon-y Amputation of 2nd left toe |
Culture/ T. rubrum |
M.CARD9 R101C/R101C |
| 52 [28] | NR | 49 | F | Morocco | Yes/Brother | Skin, hairy skin, nails | NR | NR | M.CARD9 R101C/R101C |
| 53 [28] | 6 | 91 | M | Tunisia | NS/Offspring | Skin, hairy skin, nails, death | NR | NR | M.CARD9 Q289X/Q289X |
| 54 [28] | 12 | 44 | M | Tunisia | NS/Sister | Skin, nails | Fluconazole Itraconazole |
Culture/ T. rubrum |
M.CARD9 Q289X/Q289X |
| 55 [28] | 5 | 52 | F | Tunisia | NS/Sibling | Skin, hairy skin, nails, lymph nodes | Griseofulvin Ketoconazole Fluconazole |
T. violaceum
T. rubrum |
M.CARD9 Q289X/Q289X |
| 56 [28] | 6 | 62 | M | Tunisia | NR | Skin, hairy skin, nails, lymph nodes | Griseofulvin Fluconazole Terbinafine Itraconazole Voriconazole |
T. rubrum
T. violaceum |
M.CARD9 Q289X/Q289X |
| 57 [28] | 8 | 41 | F | Algeria | Yes/Siblings | Nails * | Griseofulvin | T. violaceum | M. CARD9 Q289X/Q289X |
| 58 [28] | NR | 37 | F | Algeria | Yes/Brother | Nails ** | Dermatophyte | M. CARD9 Q289X/Q289X | |
| 59 [40] | 13 | 4th decade | M | Gharbia, Egypt | NR | Skin, nails | Itraconazole Ketoconazole Terbinafine Ketoconazole Topical Cyclopyroxolamine Posaconazole |
Culture/ T. rubrum |
M.CARD9 Q289X/Q289X |
| 60 [69] | 51 | 65 | M | NR | NR | Skin, hairy skin, nails, lymph nodes | Griseofulvin | Culture/ T. violaceum |
NR |
| 61 [70] | 10 | 47 | F | Algeria | Yes/- | Skin, hairy skin, lymph nodes, brain | Griseofulvin Itraconazole |
Culture/ T. rubrum |
M.CARD9 Q289X/Q289X |
| 62 [71] | 16 | 31 | M | NR | NR | Skin, nails, lymph nodes | Griseofulvin Ketoconazole Itraconazole Posaconazole Amphotericin B |
T. rubrum T. violaceum |
M.CARD9 intron 3: c.271T > C (p.Y91H) Intron 8: c.1269 + 18G > A |
| 63 [72] | 3 | 24 | M | Brazil | Not | Skin, hairy skin, nails | Nistatin Ketoconazole Itraconazole Terbinafin Posaconazole Amphotericin B |
Culture/T. mentagrophytes | Homozygous for a novel c.302G > T variation in the exon 3 of the CARD9 gene (R101L) |
NR: not reported, F: female, M: male, NS: not specified, TF: trichophyton, CD: candidin, Tb: tuberculin, +: positive, −: negative, M.CARD9: CARD9 mutation; * onychomycosis of all nails; ** chronic onychomycosis since childhood.