Punctate keratoderma was presented on both palms (Figure 2A). [medcraveonline.com]

Clinical Description Patients present in infancy (between 3-6 months of age) with erythema on the cheeks and face, spreading to the extensor surfaces of the extremities. [geneskin.org]

Disease definition Rothmund-Thomson syndrome type 2 is a subform of Rothmund-Thomson syndrome (RTS; see this term) presenting with a characteristic facial rash (poikiloderma) and frequently associated with short stature, sparse scalp hair, sparse or absent [orpha.net]

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]

Abstract Rothmund-Thomson syndrome (RTS) is a rare autosomal recessive disorder presenting with poikiloderma and other clinical features, affecting the bones and eyes and, in type II RTS, presenting an increased risk for malignancy. [karger.com]

• Short Stature

  […] eyelashes; no short stature ANAPC1 ANAPC1 1 2 Johan den Dunnen 00261182 Fam3PatB Journal: Ajeawung 2019 - F - - - - - - - RTS2 bilateral juvenile cataracts; poikiloderma; absent eyebrows; absent eyelashes; premature ovarian failure; no short stature [databases.lovd.nl]

  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]

  The onset is in early infancy and photodistributed poikiloderma (that becomes widespread later), premature aging, and short stature are characteristic. [idoj.in]

  Disease definition Rothmund-Thomson syndrome type 2 is a subform of Rothmund-Thomson syndrome (RTS; see this term) presenting with a characteristic facial rash (poikiloderma) and frequently associated with short stature, sparse scalp hair, sparse or absent [orpha.net]

  Photosensitivity and multiple developmental abnormalities are associated with RTS that include hypodontia, saddle-shaped nose, micrognathia, juvenile cataracts, sparse hair, short stature, anaemia and neutropenia, gastrointestinal tract (abnormalities [geneskin.org]

• Juvenile Cataract

  Nearly 10-40% patients will develop bilateral juvenile cataract by 4-7 years of age and about 30% will have hypogonadism. [1] Nails may be dystrophic and hair (scalp, beard, pubic, axillary) may be sparse or absent in 50% while eyelashes/eyebrows are [idoj.in]

  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 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]

  juvenile cataracts; poikiloderma; absent eyebrows; absent eyelashes; premature ovarian failure; no short stature ANAPC1 ANAPC1 1 1 Johan den Dunnen 00261183 Pat4 Journal: Ajeawung 2019 2-generation family, 1 affected, unaffected carrier mother F - - [databases.lovd.nl]

• Pediatric Disease

  Cutaneous Protothecosis Dermatologic Manifestations of Filariasis Dermatologic Manifestations of Onchocerciasis (River Blindness) Lice Organism-Specific Therapy Pediculosis and Pthiriasis (Lice Infestation) Scabies Scabies Organism-Specific Therapy Pediatric [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]

  Clinical description The skeletal abnormalities may be overt (such as frontal bossing, saddle nose and congenital radial ray defects), and/or subtle anomalies visible only by radiographic analysis. [orpha.net]

  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 reay defects) and/or subtle (visible only by radiographic analysis) (summary by Larizza et al., 2010). (268400) KEGG : 36 Rothmund-Thomson syndrome (RTS) is a [malacards.org]

  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]

• High Pitched Voice

  Development of erythema with cafe-au-lait spots and not pokiloderma, slender built, narrow delicate face, prominent nose and high-pitched voice in Bloom's syndrome are essential differences while poikiloderma, mental retardation and dwarfism, conductive [idoj.in]

• Microdontia

  Abnormalities associated with teeth include abnormal crown and root formations, rudimentary or hypoplastic teeth, microdontia and multiple missing teeth. [ncbi.nlm.nih.gov]

  […] bilateral juvenile cataract by 4-7 years of age and about 30% will have hypogonadism. [1] Nails may be dystrophic and hair (scalp, beard, pubic, axillary) may be sparse or absent in 50% while eyelashes/eyebrows are sparse/absent in 70% cases. [5] Dental (microdontia [idoj.in]

  He had microdontia, palmoplantar hyperceratosis and dystrophic nails on the hands and feet in addition to the widespread poikiloderma (Figure 1c,d). Testis volume was 2 mL and penis size was 3 cm. [heighpubs.org]

  Microdontia of a premolar was observed at the radiographic examination. The patient and family had no commitment to her oral health and dental treatment at first appointments. [contempclindent.org]

  Kyphoscoliosis 0002751 Mandibular prognathia Big lower jaw Increased projection of lower jaw Increased size of lower jaw Large lower jaw Prominent chin Prominent lower jaw [ more ] 0000303 Microcornea Cornea of eye less than 10mm in diameter 0000482 Microdontia [rarediseases.info.nih.gov]

• Dental Caries

  Various manifestations reported include4,5: • Head, ENT, eye: microcephaly, juvenile cataracts, corneal dystrophy, saddle nose; • Dental abnormalities: microdontia, hypodontia, ectopic eruption, dental caries and prognathism; • Neuromuscular: may have [tandfonline.com]

  caries [5], [6] characterize the dental alterations of RTS, when present. [contempclindent.org]

• Conjunctival Disease

  The authors describe two siblings with RTS and inflammatory conjunctival disease featuring fornix shortening and symblepharon as well as palpebral disease with sparse eyelashes. [ncbi.nlm.nih.gov]

  There are case reports showing bilateral ocular hypertension,[9] bilateral iris dysgenesis,[10] retinal and corneal atrophies, and corneal opacities.[910] Another case report shows the involvement of ocular surface such as inflammatory conjunctival disease [journals.lww.com]

• Hearing Impairment

  impairment 0000407 Skin ulcer Open skin sore 0200042 Squamous cell carcinoma 0002860 1%-4% of people have these symptoms Agenesis of permanent teeth Failure of development of permanent teeth Missing teeth [ more ] 0006349 Delayed eruption of teeth Delayed [rarediseases.info.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]

  […] eyeball 0000568 Osteoporosis 0000939 Short foot Short feet Small feet [ more ] 0001773 Short nose Decreased length of nose Shortened nose [ more ] 0003196 Short palm 0004279 Short thumb Short thumbs Small thumbs [ more ] 0009778 Small hand Disproportionately [rarediseases.info.nih.gov]

• Sparse Hair

  Other associated symptoms and signs include sparse hair, eyebrows, and eyelashes; slow growth; small stature; teeth and nail abnormalities; and chronic diarrhea and vomiting. [medicinenet.com]

  (Belgium) - >38y - - - RTS2 Growth delay, plantar hyperkeratosis, sparse hair, eyelashes and eyebrows, enamel defects, osteopenia, diarrhea in infancy, hypogonadism, chronic anemia, hyperferritinemia, hypercholesterolemia, no poikiloderma but only white [databases.lovd.nl]

  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 characterized by many features which include: poikiloderma: characteristic rash, typically develops in infancy sparse hair, eyelashes, and/or eyebrows small stature skeletal anomalies skeletal dysplasias 4 absent or malformed bones: radial ray anomalies [radiopaedia.org]

• Hyperpigmentation

  He would develop facial erythema and edema after a brief sun exposure, subsiding with hyperpigmentation in 2-3 days. [idoj.in]

  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]

  As a final condition after months to years, there is a characteristic poikiloderma pattern with reticular hypo- and hyperpigmentation, telangiectasias, focal atrophies. Hyperkeratotic lesions occur in about one-third of affected individuals. [altmeyers.org]

  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]

• Alopecia

  Elisa Adele Colombo 00049848 - - - M no Switzerland Cacasian >17y - - - RTS2 Poikiloderma, short stature RECQL4 RECQL4 2 1 Sabina Gallati, Prof. 00049865 - - - F no Denmark white >44y - - - RTS2 poikiloderma, telangiectatic lesions, punctate atrophy, alopecia [databases.lovd.nl]

  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]

  B) Poikiloderma with alopecia (21-year-old boy). C) Poikiloderma. D) Poikiloderma sparing the trunk (courtesy of Professor M. Paradisi, Rome). E) Photo distributed poikiloderma and valgism of the knees. F) Thumb aplasia (patient B). [en.wikipedia.org]

• Skin Disease

  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]

  Connective Tissue; Neoplasms, Connective and Soft Tissue; Neoplasms, Glandular and Epithelial; Neoplasms, Squamous Cell; Osteosarcoma; Rothmund-Thomson Syndrome; Sarcoma; Skin Abnormalities; Skin Diseases, Genetic Publisher: Jean-Loup Huret (Editor-in-Chief [documents.irevues.inist.fr]

  Categories Congenital and Genetic Diseases. Signs and Symptoms Rothmund-Thomson syndrome (RTS) is a rare condition that affects many parts of the body, especially the skin, eyes, bones, and teeth. [gardn.org.au]

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

• Cafe-Au-Lait Spots

  […] rhabdomyosarcoma at 12y RECQL4 RECQL4 1 1 Elisa Adele Colombo 00261179 Pat1 Journal: Ajeawung 2019 2-generation family, 1 affected, unaffected parents F - - - - - - - RTS2 bilateral juvenile cataracts, corneal ulcer, retinal detachment; poikiloderma; cafe-au-lait [databases.lovd.nl]

  Development of erythema with cafe-au-lait spots and not pokiloderma, slender built, narrow delicate face, prominent nose and high-pitched voice in Bloom's syndrome are essential differences while poikiloderma, mental retardation and dwarfism, conductive [idoj.in]

• Incontinence

  Note poikiloderma features of hydropic degeneration of basal layer, proliferation of blood vessels, perivascular and periappendageal inflammatory infiltrate of lymphohistiocytes, melanin incontinence, and melanophages H and E, x40 Click here to view Rothmund-Thomson [idoj.in]

  Dermis showed pigmentary incontinence and moderate lymphocytic infiltration in the upper dermis with dilatation of blood vessels. Case-2: A 5-year-old male child, born of consaquinous parents, presented with photosensitivity since 1 year of age. [ijdvl.com]

  Note poikiloderma features of hydropic degeneration of basal layer, proliferation of blood vessels, perivascular and periappendageal inflammatory infiltrate of lymphohistiocytes, melanin incontinence, and melanophages H and E, ×40 Rothmund-Thomson syndrome [journals.lww.com]

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]

• Microcytic Anemia

  Gastrointestinal (eosophageal stenosis, chronic emesis, diarrhea), and hematological (microcytic hypochromic anemia, leukopenia) abnormalities occur infrequently [2]. Both of the current cases were examined for leukopenia. [heighpubs.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 and Management Treatment of RTS is based on the symptoms present for each person. [gardn.org.au]

Following conservative surgery, she is currently off treatment and disease-free 2 years from diagnosis. [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]

[…] sparse hair, eyelashes, and/or eyebrows small stature skeletal anomalies skeletal dysplasias 4 absent or malformed bones: radial ray anomalies (absent radii, absent thumb) osteopenia delayed bone formation dental abnormalities cataracts Treatment and prognosis [radiopaedia.org]

Etiology RTS is transmitted as an autosomal recessive trait and RTS2 is caused by homozygous or compound heterozygous mutations in the RECQL4 gene (8q24.3), whereas the etiology of RTS1 (see this term) 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 Around 300 cases of RTS have been reported in the literature so far, with RTS2 accounting for around two-thirds of the cases. [orpha.net]

You might also be interested in Dermatology Occurrence/Epidemiology This section has been translated automatically. Rothmund-Thomson syndrome is a very rare disease (<400 patients are published worldwide). [altmeyers.org]

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]

Pathophysiology Two forms of Rothmund-Thomson Syndrome have been described. [accessanesthesiology.mhmedical.com]

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]

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]

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]

A shortage of the RECQL4 protein may prevent normal DNA replication and repair, causing widespread damage to a person's genetic information over time. [medlineplus.gov]