Table I.
Clinical features in the reported family 1 as compared with related syndromes with ichthyosisa
| This report | Syndromes with ichthyosis | |||||
|---|---|---|---|---|---|---|
| VI | V2 | V3 | Dorfman-Chanarin (MIM275630) |
Bilary atresia (MIM242400) |
Refsum (MIM266510) |
|
| Physical features | ||||||
| Skin | ||||||
| White scaly ichthyosis | + | + | + | + | + | + |
| Hypotrichosis/alopecia | + | + | + | − | + | − |
| Eyelashes/eyebrows | + | + | + | − | − | − |
| anomalies | ||||||
| Collodion baby, NBIE | − | − | − | + | − | + |
| Palmoplantar hyperkeratosis | − | − | − | + | − | + |
| Dystrophic nails | − | − | − | + | − | − |
| Pruritis | + | − | − | + | − | − |
| Extracutaneous | ||||||
| Hepatic involvement | + | + | + | + | + | − |
| Teeth anomalies | + | + | + | − | ND | − |
| Cataract | ND | − | − | + | ND | +, RP |
| Muscular weakness | − | − | − | + | ND | − |
| Mental retardation | + | − | − | + | ND | + |
| Histologic findings | ||||||
| Skin | ND | ND | ||||
| Acanthosis | − | + | + | |||
| Vacuoled keratinocytes | − | + | + | + | ||
| Oil red O staining | − | − | + | − | ||
| Liver | ND | ND | ||||
| Fatty infiltration | − | + | − | + | ||
| Fibrosis | + | − | +/− | |||
| Sclerotic cholangitis | + | − | − | − | ||
| Laboratory results | ND | |||||
| Muscular enzymes | N | N | N | Elevated | N | |
| Lipid droplets | Eo | Eo | Eo | All leukocytes | − | |
| Lipidogram | ND | N | N | N | Low cholesterol | |
| Electromyography | ND | N | ND | Myogenic changes | Neurogenic changes | |
a
+, present; −, absent; ND, not determined; N, normal; NBIE, nonbullous ichthyosiform erythroderma; RP, retinitis pigmentosa; Eo, eosinophilic granulocytes.