Table 1. Comparison between the genodermatosis reported here and differential diagnoses.
| Rothmund-Thomson syndrome | Xeroderma pigmentosum | Dyschromatosis congenita | Present cases | |
|---|---|---|---|---|
| Clinical manifestations | ||||
| Pigmentary defects (hypo/hyperpigmented) | +/− | + | + | + |
| Excessive freckling | − | + | + | + |
| Alopecia | + | − | rare | + |
| Palmoplantar keratosis | + | − | − | + |
| Cutaneous ulcers | Possible | − | − | + |
| Ungueal dystrophy | + | − | − | + |
| Teeth anomalies | + | − | − | + |
| Poikiloderma | + | − | − | − |
| Photosensitivity | + | + | − | − |
| Growth retardation | + | Possiblea | − | − |
| Eye manifestations | Possible cataract | Corneal defects | − | − |
| Neurological features | Rare | Possiblea | − | − |
| Bone defects | + | − | − | − |
| Cancers | SCC, OS | SC | − | SCC |
| Inheritance | AR | AR | AD/AR | AR |
| Responsible gene | RECQL4 | XPA-G/POLH | SASH1/ABCB6/DSRAD/ unknown | SASH1 |
Abbreviaitons: AR, autosomal recessive; AD, autosomal dominant; OS, osteosarcoma; SCC, squamous cell carcinoma; SC, skin cancers (all types).
a
according to xeroderma pigmentosum complementation group.