What Is Rothmund-Thomson Syndrome?
An uncommon genetic condition that can be passed down through families and manifests itself in multiple organs and systems, most notably the skin, eyes, bones, hair, and teeth. The primary sign or symptom is a rash that appears as a red, blistering, itchy break outs on the face and starts appearing in early childhood. After some time, dermatitis may expand to the buttocks, the arms, and the legs, and it may create areas of uneven pigmentation, patches of thin skin, and small clusters of blood vessels under the skin.
Is Rothmund-Thomson Syndrome an Inherited Disease?
This disease is inherited from generation to generation in a manner known as autosomal recessive inheritance, which indicates that both the genes that are present in each cell have mutations. Parents of a child who has an autosomal recessive disorder each contain one copy of the defective gene, but in most cases, the condition does not manifest itself in the parents in the form of signs and symptoms.
What Are the Causes of the Condition?
The Rothmund–Thomson syndrome is caused by a genetic abnormality that manifests itself as mutations in the RECQL4 gene, which is located on chromosome 8. This gene is responsible for encoding the DNA-unwinding enzyme known as helicase (deoxyribonucleic acid). The mutation inside the gene causes the chromosomes to become unstable, which in turn affects cell proliferation in a wide range of tissues. The flaw is passed down through generations as an autosomal recessive characteristic. This indicates that an aberrant gene must have been passed from generation to generation by both parents.
What Are the Signs and Symptoms?
In most cases, symptoms of Rothmund-Thomson syndrome manifest themselves during the first year of a person's life. However, each person uniquely experiences their symptoms. RTS babies may experience the following symptoms:
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Cataracts.
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Alterations to the facial features.
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Problems with feeding, including being sick or having diarrhea after consuming milk or formula.
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Bone abnormalities in the extremities, most commonly the arms, hands, and legs.
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Teeth that are short, malformed, or absent.
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Loss of hair or a patchy appearance of new hair development (including eyebrows and eyelashes).
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Keratotic lesions (calluses).
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Poikiloderma, sometimes known as a rash, boils.
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Variations in the pigmentation of the skin.
How Is Rothmund-Thompson Syndrome Diagnosed?
Patient History: Individuals diagnosed with Rothmund-Thomson syndrome almost always have a rash known as poikiloderma, are short in stature and have skeletal dysplasias. The most consistent aspect of the syndrome is represented by the skin findings that are indicative of it.
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Early in an infant's life, red patches or edematous plaques, and occasionally blistering, mark the beginning of the acute phase of the disease. In most cases, the condition begins in the cheeks and then spreads to other regions of the face, the extremities, and the buttocks. The rash eventually reaches a chronic state, which is characterized by poikiloderma, over a period of months to years (atrophy, telangiectasias, and pigmentary changes).
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Almost thirty percent of patients exhibit some level of photosensitivity.
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Problems with the gastrointestinal tract, such as persistent vomiting or diarrhea, can appear in infants and young children, but they almost always go away on their own. There have been several cases of celiac disease. Hematological disorders, such as isolated anemia and neutropenia, as well as myelodysplasia and leukemia, are also observed to develop.
Physical Examination: Poikiloderma congenitale, also known as the Rothmund-Thomson syndrome, is characterized by reticulated red marks coupled with punctate atrophy and telangiectasias on the skin. These patches replace the uneven erythema and edema of the epidermis (poikiloderma).
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These distinctive skin alterations are most often observed mostly on the face, the extensor extremities, and the buttocks, while the chest, belly, and back are spared.
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Puberty is associated with the appearance of acral hyperkeratotic lesions on the elbows, knees, hands, and feet. There have been reports of cases of palmar keratoderma.
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Individuals may experience thinning of their eyebrows, eyelashes, and/or scalp hair. Moreover, premature canities may be seen in some cases.
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There is the possibility to observe irregularities on the nails, such as dystrophic or atrophic nails.
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Malformations, microdontia, and failure of eruption are some of the dental abnormalities that can occur.
In some studies, the prevalence of juvenile cataracts was estimated to be less than ten percent, and in others, it was as high as 40 to 50 percent. Juvenile cataracts have been documented to occur with a prevalence that ranges between these two extremes. The vast majority mature between the ages of three and seven.
Patients typically have short stature, which can range from dwarfism to just generally having a petite frame. Over fifty percent of patients exhibit skeletal anomalies, most commonly distinctive facies (with frontal bossing, saddle noses, and micrognathia- a condition where the lower jaw is undersized), disproportionately tiny hands and feet, absent or deformed radii, and incomplete or partially developed thumbs.
Infertility, hypoplasia and/or aplasia of the external genitalia, amenorrhea, and a lack of secondary sex characteristics are examples of sexual disorders that affect around 25 % of elderly patients.
What Is the Complication?
The greatest cause for concern in patients with Rothmund–Thomson syndrome is their elevated risk of developing malignancies.
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Cancer of the Skin: In older children and adults with Rothmund–Thomson syndrome, skin cancers such as basal cell carcinoma, squamous cell carcinoma, and intraepidermal carcinoma (also known as Bowen disease) are frequent. They frequently manifest themselves on the legs, face, and neck. After being exposed to ultraviolet light, it is hypothesized that DNA (deoxyribonucleic acid) repair processes become impaired, which can result in cancer of the skin.
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Bone Cancer: Osteosarcoma, also known as bone sarcoma, is the second most prevalent kind of malignancy and typically manifests itself in late childhood or early adolescence. Osteosarcoma can originate well before bone dysplasia, which might make it challenging to diagnose using X-rays.
Additional forms of cancer that can afflict people who have Rothmund–Thomson syndrome include the following:
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Gastric adenocarcinomas.
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Fibrosarcomas.
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Lymphoma of the Hodgkin type.
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Malignant eccrine poroma.
What Is the Management for the Condition?
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. Treatment for Rothmund-Thomson syndrome focuses on relieving the particular symptoms that are present in each person who has the condition.
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Primary Intervention: The specific treatments for RTS focus on relieving symptoms and providing emotional support. Protecting afflicted individuals from sun exposure can be ensured through certain safety precautions, such as the use of topical sunscreens, and sunglasses. The patients have a higher risk of getting skin cancer such as squamous or basal cell carcinomas, and physicians may choose to regularly monitor afflicted skin areas to ensure the timely discovery and treatment of skin malignancies.
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Monitoring: In addition, since some individuals with RTS are much more likely than the general population to develop certain cancers that are not related to the skin such as osteosarcoma, the patients who are affected by this condition are carefully monitored to ensure early detection of any cancerous conditions and the prompt administration of a treatment that is both prompt and appropriate. It appears that people with RTS can tolerate these medicines similarly to cancer patients in the general population, which is encouraging news because effective treatments for osteosarcoma and other malignancies are currently accessible.
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For Visual Impairments: Even though cataracts can cause serious visual impairment or loss, infants and children who have RTS should be constantly monitored by pediatricians and ophthalmologists. This will ensure that cataracts are detected right away and that they receive treatment as soon as possible that is both prompt and appropriate. It is possible to avert major visual impairment or loss by removing clouded lenses using surgical procedures.
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Dental Treatment: Dental problems that may be associated with RTS may be corrected through surgery, the utilization of dentures and other artificial devices (prosthetics), and/or the application of other supportive procedures.
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Counselling and Management: It is suggested that those who are affected and their families get genetic counseling. Some treatments for this condition focus on relieving symptoms and providing emotional support. The members of the family should seriously consider getting genetic guidance.
To address the telangiectatic component of the rash in a cosmetically acceptable manner, pulsed dye laser treatment has been utilized.
Conclusion
Patients with RTS, a familial syndrome, typically exhibit a wide variety of disease manifestations that, if diagnosed early, may carry further implications for patients, such as surveying for cataracts and osteosarcomas and taking appropriate prophylactic measures for fractures; and their families, in aspects of counseling and conducting pre-implantation genetic diagnostic tests. It is important to screen patients with RTS for other complications, including cataracts and osteoporosis, because these conditions are often accompanied by a wide spectrum of systemic symptoms.
RTS is a syndrome that affects many different physiological systems and can have different manifestations. If the anesthetist is familiar with the condition and the associated anomalies, they will be better able to forecast and arrange the patient's management for a more favorable perioperative outcome.
