Rothmund-Thomson Syndrome: A 13-Year Follow-Up

Abstract

Rothmund-Thomson syndrome (RTS) is a rare autosomal recessive disorder presenting with poikiloderma and other clinical features, affecting the bones and eyes and, in type II RTS, presenting an increased risk for malignancy. With about 300 cases reported so far, we present a 13-year follow-up including clinical images, X-rays and genetic analysis. A 13-month-old female started with a facial rash with blisters on her cheeks and limbs at the age of 3 months along with congenital hypoplastic thumbs, frontal bossing and fine hair, eyebrows and eyelashes. The patient was lost to follow-up and returned 12 years later with palmoplantar hyperkeratotic lesions, short stature, disseminated poikiloderma and sparse scalp hair, with absence of eyelashes and eyebrows. Radiographic analysis showed radial ray defect, absence of the thumb and three wrist carpal bones, and reduced bone density. Gene sequencing for the RECQL4 helicase gene revealed a mutation on each allele. RTS is a rare disease, and in this patient we observed the evolution of her skin lesions and other clinical features, which were important for the classification of type II RTS. The next years will provide even more information on this rare disease.

Rothmund‒Thomson syndrome with esophageal stenosis: a case report

“…RTS is a rare disease and because of its broad clinical spectrum, which includes some common features, as well as some individual reports on clinical manifestations and abnormalities, patients can be easily misdiagnosed (4).The presented patient, according to the skin, nails and ocular manifestations, and despite the fact that he has not had the cataract, could be classified as type I of RTS. Gene sequencing with mutations in both alleles of the RECQL4 helicase gene is typical for type II of the disease.…”

“…Palmoplantar keratoderma has also been shown. 4 Popadic et al 5 presented the first case of RTS and plantar keratoderma. 5 Nail dystrophy could be an associated disease, such as in the presented case.…”

Rothmund-Thomson Syndrome: Insights from New Patients on the Genetic Variability Underpinning Clinical Presentation and Cancer Outcome

“…Both pathogenic variants are inferred to be present in the deceased elder sister III-1. Both deletions have been previously reported [ 8 , 24 , 25 , 26 , 27 ], but their effect at the transcript level has not been explored.…”

Histopathologic features of Rothmund-Thomson syndrome

“… 2 Other dermatologic findings can include sparse hair, madarosis, palmoplantar hyperkeratosis, and dysplastic nails or digits. 3 …”