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Rothmund-Thomson syndrome and osteoma cutis in a patient previously diagnosed as COPS syndrome.
Rothmund-Thomson syndrome and osteoma cutis in a patient previously diagnosed as COPS syndrome.
- Source :
- European Journal of Pediatrics; Feb2017, Vol. 176 Issue 2, p279-283, 5p
- Publication Year :
- 2017
-
Abstract
- We present a patient with poikiloderma, severe osteoporosis and a mild intellectual disability. At the age of 9 years, this patient was proposed to suffer from a novel disease entity designated as calcinosis cutis, osteoma cutis, poikiloderma and skeletal abnormalities (COPS) syndrome. At the age of 35, he was diagnosed with Hodgkin's lymphoma. Recently, biallelic pathogenic variants in the RECQL4 gene were detected (c.1048_1049delAG and c.1391-1G>A), confirming a diagnosis of Rothmund-Thomson syndrome (RTS). In the brother of this patient, who had a milder phenotype, a similar diagnosis was made.<bold>Conclusion: </bold>We conclude that COPS syndrome never existed as a separate syndrome entity. Instead, osteoma cutis may be regarded as a novel feature of RTS, whereas mild intellectual disability and lymphoma may be underreported parts of the phenotype. What is new: • Osteoma cutis was not a known feature in Rothmund-Thomson patients. • Intellectual disability may be considered a rare feature in RTS; more study is needed. What is known: • RTS is a well-described syndrome caused by mutations in the RECQL4 gene. • Patients with RTS frequently show chromosomal abnormalities like, e.g. mosaic trisomy 8. [ABSTRACT FROM AUTHOR]
- Subjects :
- ROTHMUND-Thomson syndrome
SYMPTOMS
BONE densitometry
PHYSICAL diagnosis
CYTOGENETICS
HODGKIN'S disease
BONE abnormalities
GENETIC disorder diagnosis
LYMPHOMA diagnosis
OSTEOPENIA
OSTEOPOROSIS diagnosis
SKIN disease diagnosis
METAPLASTIC ossification
CALCINOSIS
CHROMOSOME abnormalities
CHROMOSOMES
DIAGNOSIS
MEDICAL errors
PEOPLE with intellectual disabilities
SYNDROMES
Subjects
Details
- Language :
- English
- ISSN :
- 03406199
- Volume :
- 176
- Issue :
- 2
- Database :
- Complementary Index
- Journal :
- European Journal of Pediatrics
- Publication Type :
- Academic Journal
- Accession number :
- 120784607
- Full Text :
- https://doi.org/10.1007/s00431-016-2834-3