Table 2 -. Summary of the clinical signs observed in patients with the c.1879A>G (p.(Arg627Gly)) FAM111B mutation.
| Patient A | Patient B/F3-II1a,b | Patient C/F1-II2a,b | Patient D/F2-II4a,b,c | Patient E/F2 sonb | |
|---|---|---|---|---|---|
| Origin | Italy | Italy | France | Algeria | Algeria |
| Age at clinical evaluation | 2y | 4y | 7y | 30y | 8m |
| Sex | Male | Female | Male | Male | Male |
| Short stature | + (3° percentile) | + (50° percentile) | - | + | - |
| Skin | |||||
| Poikiloderma | + | + | + | + | + |
| Cellulitis | - | + | + | - | - |
| Dermatitis | + | + | - | - | - |
| Eczematous lesions | - | - | + | + | + |
| Sclerosis of digits | - | - | - | + | - |
| Vitiligo | - | + | - | - | - |
| Sparse scalp hair | + | + | + | + | + |
| Sparse eyelashes | + | + | + | + | + |
| Sparse eyebrows | + | + | + | + | + |
| Heat intolerance | + | + | + | + | n.d. |
| Eyes Cataract | - | + | - | - | - |
| Pancreas | |||||
| Insufficiency | - | - | + | - | n.d. |
| Cancer | - | - | - | + | n.d. |
| Liver | |||||
| Failure | + | - | n.d. | - | - |
| Vanishing bile ducts | + | + | n.d. | - | - |
| Cirrhosis | + | - | n.d. | - | - |
| Cholestasis | + | + | n.d. | - | - |
| Hepatomegaly | - | + | n.d. | - | |
| Lungs | |||||
| Asthma | - | - | + | - | n.d. |
| Restrictive syndrome | - | - | - | + | n.d. |
| Muscle | |||||
| Weakness | + | + | + | + | - |
| Atrophy | - | - | + | + | - |
| Adiposis | - | + | + | + | - |
| Contractures | + | + | + | + | - |
| Lymphedema | + | + | + | - | - |
| Haematological alterations | ↓ IgG1, IgG2, IgG4, ↑ IgE ↑ GoT ↑ GPT ↑ gammaGT | ↓ IgG2, IgG4, ↑ IgG1 ↑ GoT ↑ GPT ↑ gammaGT ↑ LDH ↑ CPK | Eosinophilia | ↑ CPK | n.d. |
| Others | Death at 17y for liver cirrhosis | Scoliosis Nail dysplasia Death at 15y for injury | n.d. | Scoliosis Dysphagia Death at 32y for cancer | n.d. |
n.d.: not documented; a: Mercier et al., 2013; b: Mercier et al., 2015; c: Mercier et al., 2019