| Age/sex |
9 years and 3 months/ F |
1 year and 7 months/M |
| Birth weight |
2.720 kg |
3.400 kg |
| Skin changes |
Since 6 months sun- and heat-sensitive erythema on cheeks. |
Since 3 months sun- and heat-sensitive erythema on cheeks. |
| Poikiloderma onset |
15 months with punctate atrophy and a few telangiectases. |
Not yet present. |
| Additional skin changes |
Café-au-lait spots progressively appearing on the trunk up to 15 at 9 years.
Frequent episodes of angular cheilitis.
At 9 years, atrophic, hyperpigmented scars sequelae of long-lasting insect bite reactions. |
At 19 months a few café-au-lait spots on abdomen. |
| Growth parameters |
At 4 years and 6 months: weight and height<3rd percentile.
At 9 years: weight and height<3rd percentile. |
At 19 months: weight 13th percentile and height 11th percentile. |
| Skin annexes |
At 15 months: thin hair, sparse eyelashes, sparse eyebrows, normal nails and teeth.
At 9 years and 3 months: normal hair, rare eyebrows only in the external third. |
At 19 months: thin hair, sparse eyelashes and eyebrows and normal nails.
First tooth eruption at 12 months, 4 incisors at 19 months. |
| Bone alterations |
At 4 years and 6 months: osteolytic area between the third medial and the third distal femoral diaphysis. The lesion could not be detected at subsequent controls.
One year retarded bone age at 8-year evaluation. |
Not evaluated. |
| Eye anomalies |
No |
No |
| Haematologic dysfunction |
No |
No |
| Tumours |
No |
No |
