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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,