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]

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]

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]

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]

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]

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]

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]

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]

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]

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]

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]

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]

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]

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]

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]

contractures usually seen in childhood & can be present as early as age 2 yrs In most: progressive weakness of proximal & distal muscles of all 4 limbs In some adults: progressive interstitial pulmonary fibrosis that can be life-threatening w/in 3-4 [ncbi.nlm.nih.gov]

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

[…] 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]