Table 1 Clinicopathological findings in autosomal recessive congenital ichthyosis (ARCI) patient group
From: Role of molecular testing in the multidisciplinary diagnostic approach of ichthyosis
Target gene | Sample ID | Disease onset | Sex | Family history | Age at examination | Dermatological features | Extracutaneous findings | Histopathology/Immunopathology/Electron microscopyc |
|---|---|---|---|---|---|---|---|---|
NIPAL4 | ID-1 | 1 year | F | No | 5 yrs | Brown scales, PP (+) | - | ARCI |
ID-2 | Birth | M | Yesa | 2 yrs | Scales | - | NA | |
ID-3 | Birth | M | No | 22 yrs | Large brown scales, hyperkeratotic plaques | - | ARCI | |
ID-4 | Birth | M | No | 24 yrs | Face erythema, Hyperkeratotic plaques , PP (+++), ectropion, | - | Keratinopathic ichthyosis | |
ALOX12B | ID-5 | Birth | M | No | 2 yrs | Face erythema, lamellar scales, PP (+), ectropion | - | ARCI |
ID-6 | Birth, collodion | M | No | 13 yrs | Face erythema, large scales, PP (++) | - | ARCI | |
ID-7 | Birth | M | No | 5 yrs | Erythema, thin and large scales, PP (+) | - | ARCI | |
ID-8 | NA | NA | NA | NA | NA | |||
ID-9 | NA | M | No | 72 yrs | Generalized erythema, large scales | - | ARCI | |
ID-10 | Birth, collodion | F | No | 1 mo | Fine scales, minimal erythema, PP (+), ectropion, ear deformity | - | ARCI | |
ID-11 | NA | F | No | 6 yrs | Large and medium brownish scales | - | NA | |
ID-12 | Birth, collodion | No | Birth | Whitish and thin scales, PP (++), ectropion, eclabion | - | ARCI | ||
ID-13 | Birth, collodion | M | No | 9 yrs | Fine whitish scales, particularly on the abdomen | - | Undefined | |
CYP4F22 | ID-14 | NA | NA | NA | NA | NA | NA | NA |
ID-15 | Birth, collodion | F | No | 1 yrs | Rapid detachment of collodion and almost complete normalization of the skin (fine scaling), PP (+) | - | NA | |
TGM1 | ID-16 | NA | NA | NA | NA | NA | NA | NA |
ID-17 | Birth, collodion | M | No | 16 yrs | Large brownish scales, erythema on face, PP (++), ectropion | - | ARCI | |
ID-18 | Birth, collodion | F | No | 3 yrs | Small whitish scales, PP (+), ectropion | - | ARCI | |
ID-19 | Birth, collodion | F | No | 4 mos | Scales | - | NA | |
ID-20 | Birth, collodion | F | No | 7 mos | Large brownish scales, onychodystrophy, PP (++), ectropion, eclabion, ear deformity | - | ARCI | |
ID-21 | Birth, collodion | M | Nob | 1 yr | Brownish large scales, slight erythema, PP (++), ectropion, eclabion | Prematurity, cryptorchidism | ARCI | |
ID-22 | Birth | F | No | 1 yr | Large scales | Psychomotor delay, pancytopenia,hepatomegaly | NA | |
ALOXE3 | ID-23 | Birth | M | No | 1 yr | Fine small scales | - | ARCI |
ID-24 | Birth, collodion | M | No | 3 yrs | Small thin scales, PP (++), ectropion, eclabion, ear deformity | - | ARCI | |
ABCA12 | ID-25 | Birth | M | Nob | 15 yrs | Harlequin ichthyosis | NA | NA |
ID-26 | NA | F | No | 6 yrs | NA | NA | A | |
ID-27 | NA | F | NA | 36 yrs | NA | NA | NA | |
/ | ID-28 | 3 months | F | No | 5 yrs | Small whitish scales | - | ARCI |
/ | ID-29 | Birth | M | No | 38 yrs | Erythema, brownish scales, onychodystrophy, PP (++) | - | NA |
/ | ID-30 | Birth | F | No | 26 yrs | Large scales | - | NA |
/ | ID-31 | Birth | F | NAd | 1 yr | Erythroderma, large whitish scales, hypotrichosis, onychodystrophy, PP (++), ectropion, ear deformity | Mental delay, cleft palate | Undefined |