TABLE 2.
Major signs and symptoms of 31 individuals with FAM111B variants by age groups
| Age groups (years) | All patients | ||||||||||||||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| 0–6 | 6–12 | 12–30 | 30–50 | >50 | n = 31 | ||||||||||||||
| n = 7 | n = 5 | n = 11 | n = 4 | n = 4 | |||||||||||||||
| + | − | NA | + | − | NA | + | − | NA | + | − | NA | + | − | NA | + | − | NA | ||
| Phenotype | |||||||||||||||||||
| General | Consanguinity | 0 | 7 | 0 | 0 | 5 | 0 | 1 | 10 | 0 | 1 | 3 | 0 | 0 | 4 | 0 | 2 | 29 | 0 |
| Growth retardation | 6 | 8 | 17 | ||||||||||||||||
| Delayed puberty | 2 | 2 | 27 | ||||||||||||||||
| ↓ Heigh‐weigh CT/BMI | 7 | 2 | 22 | ||||||||||||||||
| Normal IQ | 14 | 0 | 17 | ||||||||||||||||
| Skin | Poikiloderma | 7 | 0 | 0 | 5 | 0 | 0 | 11 | 0 | 0 | 4 | 0 | 0 | 4 | 0 | 0 | 31 | 0 | 0 |
| Photosensitivity | 3 | 1 | 3 | 3 | 0 | 2 | 5 | 0 | 6 | 3 | 0 | 1 | 1 | 1 | 2 | 15 | 2 | 18 | |
| Truncal hypopigmentation | 2 | 2 | 3 | 2 | 2 | 1 | 6 | 3 | 2 | 1 | 3 | 0 | 3 | 1 | 0 | 14 | 11 | 6 | |
| Bullous lesions | 3 | 1 | 3 | 3 | 2 | 0 | 0 | 6 | 5 | 0 | 4 | 0 | 0 | 3 | 1 | 6 | 16 | 9 | |
| Eczema like | 7 | 0 | 0 | 3 | 2 | 0 | 4 | 5 | 2 | 2 | 2 | 0 | 1 | 3 | 0 | 17 | 12 | 2 | |
| Lymphoedema | 2 | 2 | 3 | 4 | 1 | 0 | 7 | 2 | 2 | 2 | 2 | 0 | 3 | 1 | 0 | 18 | 8 | 5 | |
| Sclerosis/scleroderma | 0 | 3 | 4 | 0 | 5 | 0 | 4 | 3 | 4 | 3 | 1 | 0 | 2 | 2 | 0 | 9 | 14 | 8 | |
| Cellulitis/erysipelas | 1 | 2 | 4 | 1 | 2 | 2 | 2 | 3 | 6 | 0 | 3 | 1 | 1 | 1 | 2 | 5 | 11 | 15 | |
| Hypoidrosis/heat intolerance | 6 | 1 | 0 | 4 | 1 | 0 | 8 | 0 | 3 | 3 | 0 | 1 | 4 | 0 | 0 | 25 | 2 | 4 | |
| Adnexa | Hypotrichosis/nonscarring alopecia | 6 | 0 | 1 | 5 | 0 | 0 | 7 | 1 | 3 | 4 | 0 | 0 | 3 | 0 | 1 | 25 | 1 | 5 |
| Nails dysplasia | 1 | 4 | 2 | 0 | 5 | 0 | 2 | 3 | 6 | 0 | 3 | 1 | 0 | 2 | 2 | 3 | 17 | 11 | |
| Muscles | Muscle weakness | 1 | 4 | 2 | 3 | 0 | 2 | 4 | 1 | 6 | 1 | 1 | 2 | 0 | 0 | 4 | 9 | 6 | 18 |
| Limbs | 1 | 4 | 2 | 4 | 0 | 1 | 2 | 1 | 8 | 1 | 1 | 2 | 0 | 0 | 4 | 8 | 6 | 17 | |
| Axial | 5 | 0 | 2 | 1 | 2 | 2 | 2 | 1 | 8 | 1 | 1 | 2 | 0 | 0 | 4 | 9 | 4 | 18 | |
| Amyotrophy | 5 | 0 | 2 | 2 | 1 | 2 | 2 | 2 | 7 | 1 | 1 | 2 | 0 | 0 | 4 | 10 | 4 | 17 | |
| Joints | Lower limbs contractures | 3 | 3 | 1 | 4 | 1 | 0 | 7 | 2 | 2 | 2 | 2 | 0 | 3 | 0 | 1 | 19 | 8 | 4 |
| Upper limbs contractures | 1 | 5 | 1 | 2 | 3 | 0 | 8 | 2 | 1 | 2 | 2 | 0 | 3 | 0 | 1 | 16 | 12 | 3 | |
| Skeletal | Scoliosis | 0 | 2 | 5 | 0 | 2 | 3 | 1 | 0 | 10 | 1 | 0 | 3 | 0 | 0 | 4 | 2 | 4 | 25 |
| Mouth | Dysphagia/velopharyngeal insufficiency | 0 | 3 | 4 | 1 | 2 | 2 | 1 | 1 | 9 | 1 | 1 | 2 | 0 | 0 | 4 | 3 | 7 | 21 |
| Liver | Hepatomegaly | 1 | 4 | 2 | 3 | 0 | 2 | 1 | 3 | 7 | 0 | 3 | 1 | 0 | 1 | 3 | 5 | 11 | 15 |
| Pancreas | Exocrine insufficiency | 1 | 2 | 4 | 3 | 2 | 0 | 1 | 0 | 10 | 0 | 1 | 3 | 0 | 0 | 4 | 5 | 5 | 21 |
| Steatorrhea/diarrhea | 2 | 1 | 4 | 2 | 3 | 0 | 2 | 0 | 9 | 0 | 2 | 2 | 1 | 0 | 3 | 7 | 6 | 18 | |
| Enzyme replacement | 1 | 1 | 5 | 1 | 1 | 3 | 0 | 0 | 11 | 0 | 0 | 4 | 0 | 0 | 4 | 2 | 2 | 27 | |
| Eyes | Cataract/amblyopia | One amblyopia | One cataract | ||||||||||||||||
| Laboratory | |||||||||||||||||||
| Blood tests | Eosinophilia | 1 | 0 | 6 | 2 | 2 | 1 | 0 | 3 | 8 | 0 | 1 | 3 | 0 | 0 | 4 | 3 | 6 | 22 |
| ↑ GOT‐AST/GPT‐ALT | 3 | 1 | 3 | 2 | 0 | 3 | 5 | 1 | 5 | 1 | 0 | 3 | 0 | 1 | 3 | 11 | 3 | 17 | |
| ↑ Gamma GT | 1 | 1 | 5 | 1 | 0 | 4 | 0 | 1 | 10 | 0 | 0 | 4 | 0 | 0 | 4 | 2 | 2 | 27 | |
| ↑ Alkaline phosphatase | 2 | 0 | 5 | 1 | 0 | 4 | 3 | 1 | 7 | 0 | 0 | 4 | 0 | 0 | 4 | 6 | 1 | 24 | |
| ↑ SCK | 1 | 2 | 4 | 1 | 1 | 3 | 2 | 1 | 8 | 1 | 1 | 2 | 0 | 0 | 4 | 5 | 5 | 21 | |
| Muscle exploration | Altered EMG | 0 | 0 | 7 | 2 | 0 | 3 | 1 | 1 | 9 | 0 | 0 | 4 | 0 | 0 | 4 | 3 | 1 | 27 |
| MRI/CT scan | 1 | 0 | 6 | 1 | 0 | 4 | 2 | 0 | 9 | 2 | 0 | 2 | 0 | 0 | 4 | 6 | 0 | 25 | |
| Adipose substitution | 1 | 1 | 2 | 2 | 6 | ||||||||||||||
| Fibrosis | 0 | 1 | 2 | 2 | 6 | ||||||||||||||
| Muscular biopsy | 0 | 0 | 7 | 2 | 0 | 3 | 3 | 0 | 8 | 1 | 0 | 3 | 0 | 0 | 4 | 6 | 0 | 25 | |
| Fibrosis | 1 | 3 | 1 | 5 | |||||||||||||||
| Adipose infiltration | 2 | 3 | 1 | 6 | |||||||||||||||
| Skin exploration | Skin biopsy | 3 | 0 | 4 | 3 | 0 | 2 | 3 | 0 | 8 | 0 | 0 | 4 | 0 | 0 | 4 | 9 | 0 | 22 |
| Fibrosis | 3 | 3 | 3 | 9 | |||||||||||||||
| Poikiloderma | 3 | 2 | 3 | 8 | |||||||||||||||
| Pancreas exploration | ↓ Pancreatic isoamilase | 0 | 0 | 7 | 2 | 0 | 3 | 1 | 0 | 10 | 1 | 0 | 3 | 1 | 0 | 3 | 5 | 0 | 26 |
| Liver exploration | Liver biopsy | 1 | 0 | 6 | 2 | 0 | 3 | 1 | 0 | 10 | 0 | 0 | 4 | 0 | 0 | 4 | 4 | 0 | 27 |
| Fibrosis | 1 | 2 | 1 | 3 | |||||||||||||||
| Macro‐microvescicular infiltration | 0 | 2 | 1 | 3 | |||||||||||||||
| Bone marrow exploration | Bone marrow biopsy and aspiration | 1 hypocellular BOM | 1 | ||||||||||||||||
| Lung exploration | Restrictive syndrome at PFT | 1 | 0 | 6 | 3 | 0 | 2 | 3 | 2 | 6 | 2 | 1 | 1 | 0 | 0 | 4 | 9 | 3 | 19 |
| ↓ DLCO | 0 | 0 | 7 | 2 | 0 | 3 | 2 | 2 | 7 | 2 | 0 | 2 | 0 | 0 | 4 | 6 | 2 | 23 | |
| Fibrosis at Thoracic CTs | 0 | 1 | 6 | 0 | 1 | 4 | 0 | 3 | 8 | 1 | 1 | 2 | 0 | 0 | 4 | 1 | 6 | 24 | |
| Associated diseases | One asthma, one GER, one VUR | One hypotiroidism | One pancreatic carcinoma | One pancreatic carcinoma | |||||||||||||||
| Sex | 16 M and 15 F | ||||||||||||||||||
Note: Our table retraces and confirms the major signs, symptoms and alterations in radiological, functional and anatomopathological tests, reported by Mercier et al. 2015 table's.
Abbreviations: −, negative; +, positive; DLCO, diffusing lung CO2; GER, gastro‐esophageal reflux; NA, non available; VUR, vescicoureteral reflux.