Patients | Â | #25 | #16 | #17a | #17b | #21[23] | #26[24] | #11 |
---|---|---|---|---|---|---|---|---|
Gender | Â | F | M | M | F | F | M | F |
Date of birth | Â | 2010 | 2000 | 1993 | 1983-1993 | 1989 | 1988 | 1974 |
Geographic origin | Â | US | Turkey | Turkey | Turkey | Italy | Turkey | Algeria |
Clinical signs | poikiloderma | yes | yes | yes | yes | yes | yes | yes |
 | onset | 5 months | 6 months | 5 months | infancy | 6 months | 6 months | at birth |
 | first localization | extremities | extremities | extremities | extremities | feet, hands, knee | widespread | n.d. |
 | photo-sensitivity | n.d. | no | no | n.d. | yes | yes | n.d. |
 | palmo-plantar lesions | palmo-plantar xerotic erythema | plantar hyper-keratosis desquamation | palmo-plantar hyper-keratosis | palmo-plantar bullous changes | palmo-plantar and knee hyper-keratosis | n.d. | palmo-plantar hyper-keratosis |
 | nail abnormalities | multiple nails with distal onycholysis | pachyonychia | toes nails subungueal hyper-keratosis | n.d. | nail dystrophy | digit dystrophy; toes anonychya | big toes |
 | dental defects |  | caries tendency | dental eruption delay; caries tendency | n.d. | dental eruption delay | n.d. | n.d. |
 | craniofacial dysmorphisms | caput quadratum; prominent forehead | saddle nose | saddle-short nose; flat broad face; caput quadratum; retrognathia | n.d. | saddle nose, triangular face | maxillary hypoplasia; saddle nose; micrognathia | n.d. |
 | skeletal defects | not apparent at chest X-ray | widening of femoral metaphysis |  | n.d. | osteopetrosis at 2 m; increased bone density; sclerosis of vertebrae and skull; delayed skeletal maturation | zygodactyly between 2nd and 3rd digit; osteopenia of all bone structures | presence of calcification; multiple bone fractures |
 | haematological features | neutropenia | persistent leukopenia | leukopenia; MDS; splenomegaly | n.d. | severe anemia; neutropenia; responsive to GCSF | neutropenia | neutropenia; chronic haemolysis |
 | recurrent infections | viral hepatitis (1 month); S. bovis bacteremia (3 months) | pneumonia | pneumonia; meningitis | multiple infections | dental abscess; severe sepsis; pneumonia; broncho-pneumonia | recurrent leg ulcers with severe sepsis | infections since infancy |
 | growth delay | n.d. | low stature (< 3rd centile) | low stature (< 3rd centile) | n.d. | low stature | low stature | n.d. |
 | sexual development | n.d. | normal | hypo-gonadism | n.d. | n.d. | secondary sex features poorly developed; hypo-gonadism | n.d. |
 | others | pulmonic stenosis; prolonged QT at ECG; hypoglycemia | n.d. | miscarriage; hyper-keratosis on ear helixes; dry scalp hair | miscarriage; congenital heart disease; died at 10 years | thin hair | n.d. | atrophic polychondritis |