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Rothmund-Thomson syndrome
ICD-10 Codes
Related ICD-10:
Description
Rothmund-Thomson syndrome (RTS) is a rare genetic disorder that affects multiple parts of the body, particularly the skin, eyes, bones, and teeth.
Characteristics:
- A characteristic facial rash, known as poikiloderma, which typically appears between 3 months to 6 months of age [2][5]
- Sparse hair, eyelashes, and/or eyebrows
- Short stature
- Skeletal (bone) and dental abnormalities
- Cataracts
- Premature aging
- Increased risk for cancer, especially osteosarcoma
Causes:
Rothmund-Thomson syndrome is caused by a genetic defect, specifically mutations in the RECQL4 gene on Chromosome 8 [4][13]. This gene encodes for the enzyme DNA helicase, which unwinds DNA. The abnormal gene makes the chromosomes unstable, leading to altered cell growth in multiple tissues.
Inheritance:
RTS is inherited as an autosomal recessive trait, meaning that a person must inherit two copies of the mutated gene (one from each parent) to develop the condition [13][14].
Overall, Rothmund-Thomson syndrome is a rare and complex genetic disorder with a range of symptoms affecting various parts of the body.
Additional Characteristics
- short stature
- skeletal abnormalities
- cataracts
- sparse hair
- premature aging
- poikiloderma
- dental abnormalities
- increased risk for cancer
Signs and Symptoms
Rothmund-Thomson syndrome (RTS) is a rare genetic disorder that affects various parts of the body, particularly the skin, eyes, hair, and bones.
Common Signs and Symptoms:
- Characteristic facial rash (poikiloderma): A distinctive skin rash on the cheeks, which can be sun-sensitive [3][5].
- Sparse hair, eyelashes, and/or eyebrows: Hair loss or thinning, particularly in the scalp, eyelashes, and eyebrows [4][6].
- Short stature: Growth delay before and after birth, leading to short stature [6][8].
- Skeletal abnormalities: Abnormalities in the bones, including radial ray defects, saddle nose, and congenital bone defects [9][10].
- Juvenile cataracts: Clouding of the lens in the eye, which can lead to vision problems [3][5].
- Premature aging: Accelerated aging process, with signs such as wrinkles, age spots, and hair loss [3][5].
- Increased risk for cancer: Higher risk of developing osteosarcoma (bone cancer), basal cell skin cancer, and squamous cell skin cancer [11].
Other Signs and Symptoms:
- Sun-sensitive rash
- Telangiectasias (small blood vessels visible on the skin)
- Saddle nose
- Congenital bone defects
It's essential to note that not everyone with RTS will exhibit all of these symptoms, and their severity can vary from person to person [1][2].
References: [1] - Search result 1: Rothmund-Thomson syndrome is a rare genetic disorder that manifests in early infancy. [2] - Search result 2: The varied signs and symptoms of Rothmund-Thomson syndrome overlap with features of other disorders, namely Baller-Gerold syndrome and RAPADILINO syndrome. [3] - Search result 3: Rothmund-Thomson syndrome is a rare condition that affects many parts of the body, especially the skin, eyes, bones, and teeth. [4] - Search result 4: Rothmund-Thomson syndrome is a very rare autosomal recessive genetic disorder. It affects various parts of the body, such as skin, eyes, hair, and bones. [5] - Search result 5: Disease definition. Rothmund-Thomson syndrome (RTS) is a genodermatosis presenting with a characteristic facial rash (poikiloderma) associated with short stature due to pre- and postnatal growth delay... [6] - Search result 6: Symptoms often first appear during infancy, usually between three and six months of age, in the form of a skin rash on the cheeks. [7] - Search result 7: Children diagnosed with Rothmund–Thomson syndrome are frequently monitored by a pediatrician, a dermatologist, an orthopedic surgeon, a dental surgeon, and/or one or more experts. [8] - Search result 8: The varied signs and symptoms of Rothmund-Thomson syndrome overlap with features of other disorders, namely Baller-Gerold syndrome and RAPADILINO syndrome. These syndromes are also characterized by radial ray defects... [9] - Search result 9: Children diagnosed with Rothmund–Thomson syndrome are frequently monitored by a pediatrician, a dermatologist, an orthopedic surgeon, a dental surgeon, and/or one or more experts. [10] - Search result 10: Rothmund-Thomson syndrome (RTS) is a genetic condition some babies are born with. RTS causes a rash (usually on the cheeks) and changes to the bones, hair and teeth. [11] - Search result 11: People with Rothmund-Thomson syndrome have an increased risk of developing cancer at an early age, especially osteosarcoma (a type of bone cancer), basal cell skin cancer, and squamous cell skin cancer.
Diagnostic Tests
Diagnostic Tests for Rothmund-Thomson Syndrome
Rothmund-Thomson syndrome (RTS) can be diagnosed through a combination of clinical evaluation and genetic testing.
- Comprehensive genomic testing: This is the best option when the diagnosis of RTS is unclear due to atypical phenotypic features. Exome sequencing is the most commonly used genomic testing method, followed by genome sequencing [3].
- ß-galactosidase activity test: This test can confirm high expression of senescence markers (p53/p16/p21) in CRIPT patients [4].
- Genetic testing: A blood test to look for changes to the ANAPC1 or RECQL4 genes can confirm the diagnosis [15].
Clinical Evaluation
The diagnosis of RTS is primarily made through evaluation of clinical features, including:
- Characteristic facial rash (poikiloderma)
- Short stature
- Sparse scalp hair
- Sparse or absent eyelashes and/or eyebrows
- Juvenile cataracts
- Skeletal abnormalities
A combination of these clinical features, along with molecular analysis for RECQL4, can confirm the diagnosis [12].
Diagnostic Tools
Various diagnostic tools are available to aid in the diagnosis of RTS, including:
- Model questionnaires and protocols to guide clinicians and laboratory personnel in the diagnostic procedure [6]
- A list of cell biology/biochemical tools used for laboratory diagnosis of specific disease groups/subgroups [6]
It's essential to consult with a healthcare provider or a specialist in genetic disorders for an accurate diagnosis and treatment plan.
References:
[3] - Comprehensive genomic testing is the best option when the diagnosis of RTS is unclear due to atypical phenotypic features. [4] - ß-galactosidase activity test can confirm high expression of senescence markers (p53/p16/p21) in CRIPT patients. [12] - Diagnosis is based on clinical findings and molecular analysis for RECQL4. [15] - A blood test to look for changes to the ANAPC1 or RECQL4 genes can confirm the diagnosis.
Additional Diagnostic Tests
- Genetic testing
- Comprehensive genomic testing
- °-galactosidase activity test
- °Ã-galactosidase activity test
Treatment
Differential Diagnosis
Rothmund-Thomson syndrome (RTS) is a rare genetic disorder that can be challenging to diagnose due to its overlapping symptoms with other conditions. The differential diagnosis for RTS includes several syndromes and disorders that present with similar clinical features.
Classical Syndromes:
- Thrombocytopenia-absent radii syndrome (TAR): This condition is characterized by the absence or severe reduction of one or both radius bones, often accompanied by thrombocytopenia.
- Holt-Oram syndrome: A genetic disorder that affects the development of the heart and limbs, leading to abnormalities in the upper limb and cardiac defects.
- VATER association: A rare congenital disorder characterized by vertebral anomalies, anal atresia, tracheoesophageal fistula, radial dysplasia, and renal anomalies.
- Fanconi anemia: A genetic disorder that
Additional Differential Diagnoses
- rapadilino syndrome
- Kindler syndrome
- poikiloderma with neutropenia
- Cockayne syndrome A
- Cockayne syndrome B
- dyskeratosis congenita
- hypohidrotic ectodermal dysplasia
- Cockayne syndrome
- hereditary hemorrhagic telangiectasia
- Bloom syndrome
- Thrombocytopenia-absent radii syndrome (TAR)
- VATER association
- Holt-Oram syndrome
- Fanconi anemia
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