Clinical features | Patient III.3 | Patient III.11 | Patient III.14 | Patient III.28 | Patient III.20 |
---|---|---|---|---|---|
Gender | F | M | M | F | F |
Age at diagnosis | 63 | 54 | 46 | 52 | 51 |
Cutaneous hyperpigmentation | + | + | + | + | + |
Hypertrichosis/sclerosis | +/+ | +/+ | +/+ | +/+ | −/− |
Erythematous nodules | − | − | − | − | + |
Location | Thighs legs | Lower back | Thighs/legs abdomen | Thighs legs | Face |
Flexions contractures/Hallux valgus | +/+ | +/+ | +/+ | +/+ | − |
Hearing loss | − | + | + | − | + |
Insulin-dependent diabetes mellitus | − | − | + | − | − |
Short stature | − | − | − | − | − |
HSMG | − | − | − | − | − |
Dilated scleral vessels | − | − | + | − | − |
Lymphadenopathy | − | − | − | − | + |
Echocardiogram | Cardiomegaly pericardial effusion | − | − | − | − |
Anemia | + | − | − | + | + |
Histopathological findings | Striking infiltrates of CD68+, CD1a−, PS100-histiocytes and cd138 + plasma cells | Inflammatory cell infiltrate, rich in plasma cells and histiocytes (CD68+, PS100+, CD1a−) which showed emperipolesis | |||
SLC29A3 Mutation | c.1088G > A: p.Arg363Gln | ||||
SHL + Phenotype | H syndrome | Familial RDD |