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Image Number 2505 (Rothmund-Thomsen’s syndrome)


Diagnosis: Rothmund-Thomsen’s syndrome

Site: Arm,upper

Sex: F

Age: 10


Description: Poikiloderma.

Submitted by: Nameer Al-Sudany

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Differential Diagnosis



Rothmund-Thomsen’s syndrome is a combination of early onset poikiloderma associated with cataracts, photosensitivity, dwarfism, and hypogonadism. Rothmund first described patients with poikiloderma and cataracts, while Thomsen’s patients had no cataracts. This controversy still continues. Patients usually present with photosensitivity and poikiloderma; about half have juvenile cataracts. Facies features a saddle nose with prominent forehead and chin. Diagnosis depends on clinical suspicion and genetic studies (most patients have defect in DNA helicase RecQL4).

The presented case is a 10-year-old girl with short stature suffered many episodes of photosensivity reactions since early childhood. On examination widespread poikiloderma (mottled hyper and hypopigmentation with skin atrophy) involved the face, trunk and extremities was evident. She yet had no cataract and family history was negative of similar condition.


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