Rothmund-Thomson Syndrome Clinical Presentation

Updated: Jun 18, 2018
  • Author: Sylvia Hsu, MD; Chief Editor: Dirk M Elston, MD  more...
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Patients with Rothmund-Thomson syndrome (poikiloderma congenitale) generally present with a rash (poikiloderma), small stature, and skeletal dysplasias.

The characteristic skin findings are the most consistent feature of the syndrome. The acute phase begins in early infancy as red patches or edematous plaques, sometimes with blistering. The cheeks are usually first involved, with later spread to other areas of the face, the extremities, and the buttocks. Over months to years, the rash enters a chronic stage characterized by poikiloderma (atrophy, telangiectasias, and pigmentary changes).

Photosensitivity is a feature in more than 30% of cases.

Gastrointestinal problems such as chronic emesis or diarrhea may occur in infancy and early childhood but usually resolve spontaneously. Celiac disease has been reported. [17]

Hematological abnormalities ranging from isolated anemia and neutropenia to myelodysplasia and leukemia have also been noted to occur.


Physical Examination

In Rothmund-Thomson syndrome (poikiloderma congenitale), irregular erythema and edema of the skin is 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. See the images below.

Note the poikiloderma and skeletal abnormalities. Note the poikiloderma and skeletal abnormalities.
Close-up of poikiloderma. Close-up of poikiloderma.
Close-up of poikiloderma. Close-up of poikiloderma.

Acral hyperkeratotic lesions on the elbows, knees, hands, and feet can be seen at puberty. Palmar keratoderma has been reported. [17]

Patients may have sparse scalp hair, eyelashes, and eyebrows. Premature canities may also be observed.

Nail abnormalities such as dystrophic or atrophic nails may be seen.

Dental abnormalities include malformation, microdontia, and failure of eruption.

Juvenile cataracts have been reported to occur with a prevalence that has been estimated at less than 10% in some series and as high as 40-50% in others. Most develop between age 3 and 7 years.

Patients usually have short stature, which ranges from dwarfism to a small build. More than half of patients have skeletal abnormalities, most frequently a characteristic facies (with frontal bossing, saddle nose, and micrognathia), disproportionately small hands and feet, absent or malformed radii, and absent or partially formed thumbs.

Sexual abnormalities, affecting about 25% of adult patients, include hypoplasia and/or aplasia of the external genitalia, amenorrhea, lack of secondary sex characteristics, and infertility.

Otsu et al report a patient who had some uncommon complications of Rothmund-Thomson syndrome (poikiloderma congenitale) and many typical features, but the patient did not have a mutation in RECQL4; therefore, they suggest this case was a "peculiar" variant of Rothmund-Thomson syndrome. [18]



Osteosarcomas have been reported to arise in as many as 32% of patients with Rothmund-Thomson syndrome (poikiloderma congenitale). They most frequently arise in the tibia/fibula. The development of osteosarcoma among patients with the syndrome has been strongly correlated with truncating mutations of RECQL4. [19]

The development of nonmelanoma skin cancers, with an earlier onset than that of the general population, has also been reported. The majority of cases were either Bowen disease or squamous cell carcinoma. [20] Squamous cell carcinoma may develop in acral keratoses.

While most skin cancers reported in patients with Rothmund-Thomson syndrome (poikiloderma congenitale) have been nonmelanoma skin cancers; Howell and Bray reported the occurrence of an amelanotic melanoma in a young woman with Rothmund-Thomson syndrome (poikiloderma congenitale). [21]