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Table 1 Summary of clinical, histological and genetics findings in our Tunisian family

From: Phenotypic intrafamilial variability including H syndrome and Rosai–Dorfman disease associated with the same c.1088G > A mutation in the SLC29A3 gene

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
  1. F: Female, M: male, −: absent, + : present,