Rothmund‐Thomson Syndrome (Thomson‐Type) and Myelodysplasia

Abstract

Rothmund-Thomson syndrome (RTS) is a genetic disease characterized by developmental abnormalities and poikilodermatous skin changes that appear in infancy. An association with myelodysplastic syndromes is rarely reported in RTS, even though impairment of immune function and recurrent infections are described in the literature. A case of Thomson-type RTS in a 14-year-old girl with trilinear myelodysplasia is presented. The patient was kept under hematologic surveillance for myelodysplastic syndrome. Bone marrow transplantation was considered unnecessary at present.

A Patient With Rothmund-Thomson Syndrome and All Features of RAPADILINO

“…21,22 In addition, there are more female than male patients with RAPADILINO syndrome, and they seem to be more severely affected, while patients with RTS are more commonly male. 15,16 However, a non-Finnish patient with RAPADILINO syndrome has been described who developed poikiloderma, but the case was later revisited and reclassified as either a severe form of RTS or a new syndrome.…”

Clinical utility gene card for: poikiloderma with neutropenia

“…For patients positive for C16orf57 mutations, genetic counselling and surveillance should be provided due to the increased risk of developing MDS/AML before the second decade of life (12 cases); PN is therefore classified as a bone marrow failure syndrome. 2,3,7,10,[12][13][14] To date, solid cancers have only been reported in two PN patients, both of whom developed squamous cell carcinoma of the skin. 10,15 Prevalences of bone marrow failure (including pre-dysplastic anomalies evolving in MDS/AML) and skin cancer in PN are 48% and 5%, respectively.…”

“…10,15 Prevalences of bone marrow failure (including pre-dysplastic anomalies evolving in MDS/AML) and skin cancer in PN are 48% and 5%, respectively. 2,3,7,10,[12][13][14][15][16] 2.6 Negative clinical predictive value (probability of not developing the disease if the test is negative) Assume an increased risk based on family history for a nonaffected person. Allelic and locus heterogeneity may need to be considered.…”

The versatile RECQL4

“…30 RTS patients have also been reported to rarely develop cutaneous squamous cell carcinoma, non-cutaneous malignancies and myelodysplasia. 31,32 Regardless of other anomalies, the clinical diagnosis of RTS rests on the manifestation of the poikilodermatous rash. The skin is usually normal at birth and the rash of RTS develops between age three and six months as erythema, swelling, and blistering on the face spreading to the buttocks and extremities.…”