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]

• Virchow's Node

  Citing Literature Number of times cited according to CrossRef: 4 Kara Nadeau and Michele Brule, Gastrointestinal Malignancy Presenting with a Virchow’s Node in a Patient with Rothmund-Thomson Syndrome, Case Reports in Genetics, 10.1155/2018/7536832, 2018 [doi.org]

• 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]

• 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]

• Pediatric Disease

  Diseases Acrokeratoelastoidosis Acropustulosis of Infancy Acute Hemorrhagic Edema of Infancy Alezzandrini Syndrome Aplasia Cutis Congenita Asymmetric Periflexural Exanthem of Childhood Ataxia-Telangiectasia Atrophia Maculosa Varioliformis Cutis Bloom [dokterairlangga.com]

• 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]

  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]

  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]

  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]

• 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]

• Overeating

  From 4 months of age he developed erythema and mottled pigmentation, which first appeared over the cheeks and then spread over the forearms, legs, thighs, and buttocks over the period of a year. [ijpd.in]

  Skin over the abovesaid areas was thin and atrophic with mottled hyper and hypopigmentation giving a parchment like [Figure - 1] appearance over distal extremities. Teeth and nails were normal. Eyelashes were sparse. [ijdvl.com]

  He subsequently developed osteosarcoma at age 10 which was successfully treated, and currently he has been tumour free for over 3 years. [ncbi.nlm.nih.gov]

  Changes are more marked over ear pinna Click here to view Figure 5: Histology of biopsy from buttock skin. [idoj.in]

• Abnormal Teeth

  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]

• 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]

• Severe Osteoporosis

  We present a patient with poikiloderma, severe osteoporosis and a mild intellectual disability. [ncbi.nlm.nih.gov]

• Sparse Hair

  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]

• Alopecia

  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]

• 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]

  During the course of the disease, cutaneous atrophy with reticulated areas of hypo- and hyperpigmentation and persistent telangiectasias develop. [orpha.net]

  AB - BACKGROUND: Poikiloderma is defined as a chronic skin condition presenting with a combination of punctate atrophy, areas of depigmentation, hyperpigmentation and telangiectasia. [pure.au.dk]

  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]

• Skin Disease

  Diseases, Genetic Publisher: Jean-Loup Huret (Editor-in-Chief) ; INIST-CNRS (Publisher) Date: 2002 Atlas Genet Cytogenet Oncol Haematol - 2002 number 1 Show full item record [documents.irevues.inist.fr]

  Rothmund-Thomson syndrome human disease Upload media Wikipedia Instance of disease, developmental defect during embryogenesis Subclass of DNA repair-deficiency disorder, skin disease, photodermatosis, hereditary cancers, rare genetic developmental defect [commons.wikimedia.org]

  Support Contacts Australia Australian Ectodermal Dysplasia Support Group Support Contacts International Rothmund-Thomson Syndrome Foundation Ectodermal Dysplasia Society National Foundation for Ectodermal Dysplasias Genetic Skin Disease Clinic (Stanford [gardn.org.au]

  diseases See the DermNet NZ bookstore. [dermnetnz.org]

• Apraxia

  […] mellitus, hypogonadism, & osteoporosis in 4 th decade Ataxia-telangiectasia ATM AR Increased risk for malignancy, particularly leukemia & lymphoma Unusual sensitivity to ionizing radiation Progressive cerebellar ataxia beginning ages 1-4 yrs Oculomotor apraxia [ncbi.nlm.nih.gov]

His extensive workup revealed bilateral absence of the patellae, subluxation of the femoral heads, and prominent osteoporosis in addition to the earlier radiographic findings. [jamanetwork.com]

Rothmund-Thomson Syndrome Medscape Detailed referenced article by Sylvia Hsu, MD covering presentation, diagnosis, workup, treatment and follow-up. Rothmund-Thomson syndrome OMIM RTS Medical Information by Dr. [cancerindex.org]

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]

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 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]

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]

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]

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]

The pathophysiologic basis of the disordered trabecular pattern is not understood. Further clinical and laboratory investigation may provide insight into the role of RECQL4 in bone development and homeostasis. [ajronline.org]

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]

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]

Injection of ondansetron 0.1 mg/kg was given to prevent postoperative nausea and vomiting. The procedure lasted for 30 minutes. Subsequently the patient was reversed and extubated uneventfully. [tandfonline.com]

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]