Skin |
Patches and plaques of hyperpigmented and hypertrichotic skin, lymphohistiocytic infiltration |
Patches and plaques of hyperpigmented and hypertrichotic skin, lymphohistiocytic infiltration |
Patches of hyperpigmented skin. Hypertrichosis is rare (25) |
Craniofacial |
Rarely: hypertelorism, flat and broad nasal bridge, upturned nares, prominent maxillary bone and gingival hypertrophy (9) |
Exophthalmos |
Frontal bossing, mid-face hypoplasia |
Other skeletal defects |
Camptodactyly, clinodactyly, short stature |
Camptodactyly, short stature, hallux valgus |
Short stature, sclerotic platyspondyly, metaphyseal sclerosis, diaphyseal widening and demarcated osteosclerosis |
Hearing |
|
Deafness |
Otosclerosis |
Bone marrow |
The bone marrow: non-clonal myeloproliferative process. Numerous monocytes and histiocytes and moderate myelofibrosis |
Red cell aplasia due to myelofibrosis in one patient |
Myelofibrosis and anemia are rare but have been reported in other families (2,26) |
Liver |
Hepatosplenomegaly |
Hepatosplenomegaly |
Normal |
Heart |
Pulmonary stenosis, pericarditis |
Pulmonary stenosis, patent ductus arteriosus with pulmonary hypertension, pericarditis |
Dysplastic pulmonary valves, pulmonary hypertension |
Endocrine |
Diabetes, hypogonadism |
Diabetes, hypogonadism |
Normal |
Other |
Lymphadenopathy, histiocyte infiltration |
Azoospermia |
Regression, compression of CNS and cranial nerves |
SLC29A3 mutations |
p.Met116Arg, p.Glu444X, p.Tyr314fs, p.Gly437Arg, p.Thr449Arg (homozygous) |
p.Arg134Cys, p.Leu349SerfsX56, p.Arg363Gln, p.Arg363Trp, p.Gly427Ser, p.Gly437Arg |
Subject 1: p.Ser203Pro, p.Arg386Gln; subject 2: p.Thr449Arg (homozygous) |