Rothmund–Thomson syndrome

Editor-In-Chief: Prab R Tumpati, MD
Obesity, Sleep & Internal medicine
Founder, WikiMD Wellnesspedia &
W8MD's weight loss doctor NYC
Philadelphia GLP-1 weight loss and GLP-1 clinic NYC

Rothmund–Thomson syndrome
Synonyms	Poikiloderma congenitale
Pronounce
Specialty	Genetics, Dermatology
Symptoms	Poikiloderma, cataracts, sparse hair, short stature, skeletal abnormalities
Complications	N/A
Onset	Infancy
Duration	Lifelong
Types	N/A
Causes	Mutations in the RECQL4 gene
Risks	Increased risk of osteosarcoma and skin cancer
Diagnosis	Clinical evaluation, genetic testing
Differential diagnosis	Bloom syndrome, Werner syndrome
Prevention	N/A
Treatment	Symptomatic management, regular cancer screenings
Medication	N/A
Prognosis	Variable, depends on complications
Frequency	Rare
Deaths

Rothmund–Thomson syndrome (RTS) is a rare genetic disorder characterized by poikiloderma, sparse hair, small stature, skeletal abnormalities, and an increased risk of developing osteosarcoma. It is also known as poikiloderma congenitale. The syndrome was first described by the German ophthalmologist August von Rothmund in 1868 and later by the British dermatologist Matthew Sydney Thomson in 1936.

Signs and Symptoms

The clinical features of Rothmund–Thomson syndrome can vary widely among affected individuals. Common signs and symptoms include:

• Poikiloderma: This is a skin condition that typically appears in infancy or early childhood. It is characterized by areas of hyperpigmentation, hypopigmentation, telangiectasia, and skin atrophy.
• Sparse Hair: Individuals with RTS often have sparse scalp hair, eyebrows, and eyelashes.
• Small Stature: Growth retardation is common, leading to shorter than average height.
• Skeletal Abnormalities: These may include radial ray anomalies, absent or malformed bones, and osteopenia.
• Increased Cancer Risk: There is a significantly increased risk of developing osteosarcoma and other types of cancer.

Genetics

Rothmund–Thomson syndrome is primarily caused by mutations in the RECQL4 gene, which plays a role in DNA repair. The syndrome is inherited in an autosomal recessive manner, meaning that an individual must inherit two copies of the mutated gene, one from each parent, to be affected.

Diagnosis

Diagnosis of RTS is based on clinical evaluation, identification of characteristic physical findings, and genetic testing to confirm mutations in the RECQL4 gene. Skin biopsy may also be performed to examine the characteristic changes in skin tissue.

Management

There is no cure for Rothmund–Thomson syndrome, and treatment is symptomatic and supportive. Management strategies may include:

• Dermatologic Care: Regular monitoring and treatment of skin lesions.
• Orthopedic Interventions: Addressing skeletal abnormalities through surgical or non-surgical means.
• Cancer Surveillance: Regular screening for early detection of osteosarcoma and other cancers.
• Growth Hormone Therapy: In some cases, to address growth retardation.

Prognosis

The prognosis for individuals with Rothmund–Thomson syndrome varies depending on the severity of symptoms and the presence of complications such as cancer. With appropriate medical care and monitoring, many individuals can lead relatively normal lives.

See also

• Genetic disorder
• Poikiloderma
• Osteosarcoma
• DNA repair
• Autosomal recessive
• RECQL4