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Rothmund Thomson Syndrome
RTS
Presentation
- Hematuria was the renal symptom present in all 3 patients; proteinuria was also present in 1. Renal biopsies showed mesangial proliferative glomerulonephritis with diffuse glomerular deposits of IgM and C3 in all cases.[ncbi.nlm.nih.gov]
- We report on two patients with variable presentations of RTS. Initial presenting symptoms included growth deficiency and absent thumbs in one patient and osteogenic sarcoma and poikiloderma in the second patient.[ncbi.nlm.nih.gov]
- Patients with RTS often present early in life with skeletal and dental abnormalities, short stature, juvenile cataracts, and a characteristic poikilodermal rash.[ncbi.nlm.nih.gov]
- 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.[ncbi.nlm.nih.gov]
- Two siblings from a consanguineous family presented with a poikiloderma of limbs and face, plantar keratoderma, and toenail pachyonychia.[ncbi.nlm.nih.gov]
Entire Body System
Juvenile Cataract
- Recently we encountered a 25-year-old white woman who had developed this syndrome but without juvenile cataracts, hypogonadism, or mental retardation.[ncbi.nlm.nih.gov]
- Rothmund-Thomson syndrome, a rare autosomal recessive disorder, is characterized by photosensitivity; specific skin changes including poikiloderma, atrophy, and telangiectases; juvenile cataracts; short stature; and bone defects.[ncbi.nlm.nih.gov]
- This is a rare, autosomal recessive disorder characterized by photosensitivity, poikiloderma, short stature, skeletal defects, and juvenile cataracts. This is the first case report of the syndrome from southeast Asia.[ncbi.nlm.nih.gov]
- Rothmund-Thomson syndrome is a rare genodermatosis that features a progressive, early-onset poikiloderma, a high incidence of juvenile cataracts, stunted growth, and a wide range of skeletal abnormalities.[ncbi.nlm.nih.gov]
- The Rothmund-Thomson syndrome is a rare disorder characterized by poikiloderma, juvenile cataracts, bone abnormalities, short stature, sparse hair, hypogonadism, defective dentition, nail dystrophy, hyperkeratosis, and mental retardation.[ncbi.nlm.nih.gov]
Short Stature
- Rothmund-Thomson syndrome (RTS) is a rare autosomal recessive disorder mainly characterized by cutaneous poikiloderma, sparse hair, short stature and skeletal defects.[ncbi.nlm.nih.gov]
- We present a 4-year-old girl with poikiloderma, radial aplasia, short stature, facial dysmorphism, and sparse hair. We believe these findings to be consistent with a diagnosis of Rothmund-Thomson syndrome.[ncbi.nlm.nih.gov]
- Rothmund-Thomson syndrome, a rare autosomal recessive disorder, is characterized by photosensitivity; specific skin changes including poikiloderma, atrophy, and telangiectases; juvenile cataracts; short stature; and bone defects.[ncbi.nlm.nih.gov]
- This is a rare, autosomal recessive disorder characterized by photosensitivity, poikiloderma, short stature, skeletal defects, and juvenile cataracts. This is the first case report of the syndrome from southeast Asia.[ncbi.nlm.nih.gov]
- Two siblings with poikiloderma, short stature and other abnormalities are described.[ncbi.nlm.nih.gov]
Fishing
- These clones were present in vivo, as they were seen in interphase buccal smears and lymphocytes from unstimulated preparations using both conventional cytogenetic studies and fluorescence in situ hybridization (FISH) with a centromere probe for chromosome[ncbi.nlm.nih.gov]
- FISH of a 8q21.3 cosmid allowed us to detect trisomy of the target region on 7% of fibroblast nuclei from both sibs, 47% and 12% of OS and MFH cells.[ncbi.nlm.nih.gov]
Varicella-Zoster Virus Infection
- Here we report the appearance of granulomatous skin lesions complicating primary Varicella Zoster Virus infection in a toddler with Rothmund Thomson syndrome and immune deficiency.[ncbi.nlm.nih.gov]
Respiratoric
Saddle Nose
- Rothmund syndrome - atrophy, pigmentation, and telangiectasia of the skin, usually with juvenile cataract, saddle nose, congenital bone defects, disturbance of hair growth and hypogonadism.[medical-dictionary.thefreedictionary.com]
- Synopsis hereditary dermatosis atrophy pigmentation telangiectasia juvenile cataract saddle nose congenital bone defects disturbances of hair growth hypogonadism. growth deficiency photosensitivity poikilodermatous skin changes early greying loss of hair[humpath.com]
- Rothmund-Thomson syndrome (RTS): A genetic disorder with numerous features affecting skin (premature aging, excess pigmentation, dilated blood vessels),eyes (juvenile cataract), nose (saddle nose), teeth (maldeveloped), skeletal system (congenital bone[medicineonline.com]
- The skeletal abnormalities may be overt (frontal bossing, saddle nose and congenital radial ray defects), and/or subtle (visible only by radiographic analysis).[ncbi.nlm.nih.gov]
- nose and radial ray defects: thumb hypo- or aplasia or radial aplasia) and an increased risk of osteosarcoma (see this term) in childhood and cutaneous squamous cell carcinoma later in life.[orpha.net]
Respiratory Distress
- Our case highlights the importance of suspecting multiple airway abnormalities in any child with respiratory distress with other systemic anomalies. This necessitates meticulous anatomical and dynamic examination of the laryngotracheo-broncheal tree.[ncbi.nlm.nih.gov]
Skin
Sparse Hair
- We present a 4-year-old girl with poikiloderma, radial aplasia, short stature, facial dysmorphism, and sparse hair. We believe these findings to be consistent with a diagnosis of Rothmund-Thomson syndrome.[ncbi.nlm.nih.gov]
- The Rothmund-Thomson syndrome is a rare disorder characterized by poikiloderma, juvenile cataracts, bone abnormalities, short stature, sparse hair, hypogonadism, defective dentition, nail dystrophy, hyperkeratosis, and mental retardation.[ncbi.nlm.nih.gov]
- It is primarily a clinical diagnosis with manifestations that include poikiloderma, short stature, sparse hair, juvenile cataracts, small hands and feet, bone defects, photosensitivity, hypogonadism, defective dentition, onychodystrophy, and hyperkeratosis[ncbi.nlm.nih.gov]
- Rothmund Thomson syndrome (RTS) is a rare autosomal recessive disorder which is primarily diagnosed by clinical manifestations that include poikiloderma, short stature, sparse hair distribution, juvenile cataracts, small hands and feet, bone defects,[ncbi.nlm.nih.gov]
- The syndrome typically presents with a characteristic facial rash (poikiloderma), its diagnostic hallmark, and heterogeneous clinical features including congenital skeletal abnormalities, sparse hair distribution, juvenile cataracts, and a predisposition[ncbi.nlm.nih.gov]
Alopecia
- It is characterized by early onset of progressive poikiloderma and several other cutaneous and extracutaneous findings including alopecia, dystrophic teeth and nails, juvenile cataracts, short stature, hypogonadism, and bone defects.[ncbi.nlm.nih.gov]
- Besides this, less common aspects have been reported like alopecia, cataracts, short stature, musculoskeletal/bone defects or small hands, hypogonadism, abnormal teeth, dysplastic nails, anhidrosis and a high incidence of cutaneous and non-cutaneous malignancies[ncbi.nlm.nih.gov]
- These findings include atrophic skin and pigment changes, alopecia, osteopenia, cataracts, and an increased incidence of cancer for patients carrying RECQL4 germline mutations. Mutations in RECQL4 are responsible for the majority of cases of RTS.[ncbi.nlm.nih.gov]
- A 20-year-old male developed early blistering, poikiloderma, hypohidrosis, alopecia and exocrine pancreatic hypofunction caused by atrophy and fatty replacement of the pancreas.[ncbi.nlm.nih.gov]
- Rothmund-Thomson syndrome is a rare autosomal recessive syndrome characterised by poikiloderma of the face and extremities, alopecia, short stature, and skeletal defects.[ncbi.nlm.nih.gov]
Hyperpigmentation
- Rothmund-Thomson syndrome (OMIM #268400) is a severe autosomal recessive genodermatosis: characterised by growth retardation, hyperpigmentation and frequently accompanied by congenital bone defects, brittle hair and hypogonadism.[ncbi.nlm.nih.gov]
- He was admitted when he was 26 months old because of short stature, dehydration, metabolic acidosis, hyperpigmentation, and typical skin lesions.[ncbi.nlm.nih.gov]
- During the course of the disease, cutaneous atrophy with reticulated areas of hypo- and hyperpigmentation and persistent telangiectasias develop.[orpha.net]
- The characteristic dermatologie abnormality associated with RTS is poikiloderma, a term used to describe skin lesions characterized by atrophy, telangiectasia, hypopigmentation, and hyperpigmentation.[healio.com]
- He would develop facial erythema and edema after a brief sun exposure, subsiding with hyperpigmentation in 2-3 days.[idoj.in]
Musculoskeletal
Small Hand
- It is primarily a clinical diagnosis with manifestations that include poikiloderma, short stature, sparse hair, juvenile cataracts, small hands and feet, bone defects, photosensitivity, hypogonadism, defective dentition, onychodystrophy, and hyperkeratosis[ncbi.nlm.nih.gov]
- Rothmund Thomson syndrome (RTS) is a rare autosomal recessive disorder which is primarily diagnosed by clinical manifestations that include poikiloderma, short stature, sparse hair distribution, juvenile cataracts, small hands and feet, bone defects,[ncbi.nlm.nih.gov]
- Besides this, less common aspects have been reported like alopecia, cataracts, short stature, musculoskeletal/bone defects or small hands, hypogonadism, abnormal teeth, dysplastic nails, anhidrosis and a high incidence of cutaneous and non-cutaneous malignancies[ncbi.nlm.nih.gov]
- hands and bone defects, sunlight sensitivity, hypogonadism, defective dentition, nail abnormality, hyperkeratosis, and mental retardation.[ncbi.nlm.nih.gov]
- The probands presented with characteristic features of severe growth delay, poikiloderma mostly on the face, buttocks and extremities, sparse or absent hair, eyelashes, and eyebrows, forearm reduction defects, small hands with hypoplasia of the middle[ncbi.nlm.nih.gov]
Severe Osteoporosis
- We present a patient with poikiloderma, severe osteoporosis and a mild intellectual disability.[ncbi.nlm.nih.gov]
Urogenital
Hematuria
- Hematuria was the renal symptom present in all 3 patients; proteinuria was also present in 1. Renal biopsies showed mesangial proliferative glomerulonephritis with diffuse glomerular deposits of IgM and C3 in all cases.[ncbi.nlm.nih.gov]
Treatment
- Management and treatment Management should include laser treatment for the telangiectatic lesions, annual ophthalmic examinations and a radiological survey in case of bone pain, limping or fractures (indicators of osteosarcoma).[orpha.net]
- Following conservative surgery, she is currently off treatment and disease-free 2 years from diagnosis.[ncbi.nlm.nih.gov]
- Treatment of the RTS cell line with acetyl-Asp-Glu-Val-Asp-aldehyde (Ac-DEVD-CHO), a specific inhibitor of caspase-3, significantly increased the cell viability after CH-11 treatment (75.9% /- 2.2%).[ncbi.nlm.nih.gov]
- Early diagnosis and treatment of both endocrinologic and malignant complications are essential for survival of patients with this rare syndrome.[ncbi.nlm.nih.gov]
- Treatment with the p38 MAP kinase inhibitor SB203580 increased both lifespan and growth rate, as did reduction of oxidative stress using low oxygen in some strains.[ncbi.nlm.nih.gov]
Prognosis
- Her prognosis is guarded in view of the increased incidence of neoplasms in this condition. More than 200 cases of RTS have now been reported worldwide.1 This is the first report of siblings with haematological disease and RTS.[ncbi.nlm.nih.gov]
- Prognosis The prognosis in RTS is variable: life expectancy is normal in the absence of cancer, whereas outcomes in patients with malignant pathologies depend on the quality and frequency of cancer screening and treatment.[orpha.net]
Etiology
- Etiology RTS2 is caused by homozygous or compound heterozygous mutations in the RECQL4 helicase gene (8q24.3; detected in 60-65% of RTS patients), whereas the etiology in RTS1 remains unknown.[orpha.net]
- This is the second reported case of an association between these two conditions, which are both likely to be due to a common etiologic cause of nonrepair of stem cell DNA damage.[ncbi.nlm.nih.gov]
- Etiology RECQL4 gene is mutated in some cases of Rothmund-Thomson syndrome (RTS) (MIM.268400). mutations in the RECQL4 gene (MIM.603780) on chromosome 8q24.3 coding for helicase recQ-like type 4 Tumoral predisposition osteosarcoma ( HPA:15245 ) ( 10986997[humpath.com]
Epidemiology
- Summary Epidemiology The prevalence is unknown, but around 300 cases have been reported so far.[orpha.net]
- Karia, Epidemiology and Outcomes of Cutaneous Squamous Cell Carcinoma, High-Risk Cutaneous Squamous Cell Carcinoma, 10.1007/978-3-662-47081-7_1, (3-28), (2016). Katja Zils, Thomas Klingebiel, Wolfgang Behnisch, Hermann L.[doi.org]
- Ross and Rajaram Nagarajan, Epidemiology of Bone and Soft Tissue Sarcomas, Pediatric Bone and Soft Tissue Sarcomas, 10.1007/3-540-29447-3_1, (1-11), (2006). James T. Cassidy and Ross E.[doi.org]
Sex distribution
Age distribution
Pathophysiology
- Kaan Boztug and Christoph Klein, Genetics and Pathophysiology of Severe Congenital Neutropenia Syndromes Unrelated to Neutrophil Elastase, Hematology/Oncology Clinics of North America, 10.1016/j.hoc.2012.11.004, 27, 1, (43-60), (2013). Mohammad M.[doi.org]
Prevention
- The use of excimer laser PTK prevented the development of dense amblyopia in this child. This case demonstrates an indication for excimer laser PTK in the pediatric population.[ncbi.nlm.nih.gov]
- Therefore, alongside careful osteoarticular monitoring to identify a bone tumor quickly, during the life of a patient suffering from the syndrome, it is just as important to take appropriate preventive action and monitor the possible onset of skin tumors[ncbi.nlm.nih.gov]
- We have mapped the region in RECQL4 that prevents cellular senescence to its N-terminal region and helicase domain. We further investigated senescence features in an RTS mouse model, Recql4-deficient mice (Recql4(HD)).[ncbi.nlm.nih.gov]
- A shortage of the RECQL4 protein may prevent normal DNA replication and repair, causing widespread damage to a person's genetic information over time.[medicinenet.com]