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Table 1 Clinical Features of the patients on the basis of the work of Urbina et al.[10]

From: Diagnosis implications of the whole genome sequencing in a large Lebanese family with hyaline fibromatosis syndrome

  Patient
VI-3
Patient
VI-4
Patient
VI-5
Patient
V-15
Patient
VI-10
ISH JHF
Papular skin lesions + + + + + + +
Thickened skin - - - - - + -
Gingival hyperplasia + + + + + + +
Perianal nodules + + + + + + +
large nodules/tumors + + + + + - +
Hyperpigmented plaques Joints and bones - - - - - + -
joint contractures + + + + + + +
Osteoporosis/osteopenia + + + + + + +
Osteolysis + + + + + + +
Persistent diarrhea + - -   - + -
Recurrent infections - - - - - + -
Visceral involvement - - - - - + -
Short stature - - - - - + -
Prolonged survival + + + + + - +