Abstract
We report a 3-year-old girl suffering from RothmundThomson Syndrome (RTS). The patient at birth had multiplex anomalies: poikilodermatous rash, sceletal abnormalities: palatoschisis, micrognathi, aplasia radii, hypoplastic right and left thenar and thumbs, pesequinus on both site, ectopy renis. The patient in the later ages was detected dental malformation, facial dysmorfism. At the age 3, she had lasion in her muscle. After biopsy, histological examination showed cutan T-cell lymphoma. The patient is the first case who had cutan T-cell lymphoma associated with RTS in this young age.
Highlights
The RothmundThomson Syndrome (RTS) was described firstly in 1868 by Rothmund
We report a 3-year-old girl suffering from RothmundThomson Syndrome (RTS)
The patient is the first case who had cutan T-cell lymphoma associated with RTS in this young age
Summary
The RTS was described firstly in 1868 by Rothmund. Up to nowadays approximately 400 cases have been reported in the literature. Patients generally present: skin rash, small stature, and skeletal dysplasias. More than 90% of patients develop the initial skin manifestations during the first year of life, usually from age 3 - 6 months. The rash enters a chronic stage characterized by poikiloderma (atrophy, telangiectasias, and pigmentary changes). Irregular erythema and edema of the skin are replaced by reticulated red-brown patches associated with punctate atrophy and telangiectasias (poikiloderma). These characteristic skin changes are typically seen on the face, extensor extremities, and buttocks with sparing of the chest, abdomen, and back. Juvenile cataracts have been reported in as many as 40% - 50% of patients aged 4 - 7 years. Bartyik et al / Open Journal of Pediatrics 3 (2013) 270-273 absent or malformed radii, and 5% of patients have absent or partially formed thumbs (Figure 1)
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