Recql4 is associated with rothmundthomson syndrome rts, a rare autosomal recessive disorder characterized by premature aging, genomic instability, and cancer predisposition. Rothmund thomson syndrome definition autosomal recessive syndrome occurring principally in females, characterized by the presence of reticulated, atrophic, hyperpigmented, telangiectatic cutaneous plaques, often accompanied by saddle nose, congenital bone defects, disturbances in the growth of hair, nails, and teeth, and hypogonadism. Extracutaneous abnormalities are frequently present. B, houston, tx, usa correspondence should be addressed to nichola s beckmann. Matthew sydney thomson further described it in 1936.
Rothmund thomson syndrome is a rare entity with wide variability in clinical expression. Essential dermatological alteration is poikilodermatosis. Clinical manifestations in a cohort of 41 rothmund thomson syndrome patients. Multiple low energy long bone fractures in the setting of. Symptoms often first appear during infancy, usually between three and six months of age, in the form of a skin rash on the cheeks. Genetics home reference ghr contains information on rothmundthomson syndrome. This website is maintained by the national library of medicine. Therefore, many experts believe that type ii is actually the same disease as stuvewiedermann syndromea rare and severe skeletal disorder with a high rate of. It has an autosomal, recessive inheritance and its signs begin at childhood. Recql4 is a member of the recq helicase family, and has many similarities to wrn protein, which is also implicated in premature aging. Exceptions include areas in which a founder mutation may be present e. Rothmundthomson syndrome is a rare inherited disease that affects the skin, eyes, bones and internal organs.
The diagnosis is made on clinical grounds as no consistent laboratory test has been identified. Treatment with the chemotherapy regimen adriamycin 25 mgm2 for 3. These tumors lose rbmediated cell cycle control, cause splenomegaly, and preclude progressively normal hematopoiesis. N2 rothmund thomson syndrome is a rare, autosomal recessive disorder associated with characteristic cutaneous changes, sparse hair, juvenile cataracts, short stature, skeletal defects, dystrophic teeth and nails, and hypogonadism. This report presents two typical cases of the rothmund thomson syndrome in brothers and calls attention to the salient features of the disorder. There have been several reported cases associated with osteosarcoma.
Rothmundthomson syndrome rts is a genodermatosis presenting with a characteristic facial rash poikiloderma associated with short stature, sparse scalp hair, sparse or absent eyelashes andor eyebrows, juvenile cataracts, skeletal abnormalities, radial ray defects, premature aging and a predisposition to cancer. Mutations in the recql4 gene cause about twothirds of all cases of rothmund thomson syndrome. Schwartzjampel syndrome type ii is apparent immediately at birth. Rothmundthomson syndrome nord national organization for. However, little is known about the overall longevity of rts patients and how they age in the absence of malignancy because clinical followup. Home cancer types rare and related disorders rothmundthomson syndrome. There has been controversy as to whether rothmunds and thomsons are the same, but the conjoined eponym rothmundthomson is now generally accepted, with thomsons syndrome regarded as a peculiar variant without cataract and. Abstract abstract rothmundthomson syndrome rts is a genodermatosis presenting with a characteristic facial rash poikiloderma associated with short stature, sparse scalp hair, sparse or absent eyelashes andor eyebrows, juvenile cataracts, skeletal abnormalities, radial ray defects, premature aging and a predisposition to cancer. Poikiloderma congenitale rothmundthomson syndrome over 250 cases of poikiloderma congenitale rothmundthomson syndrome. People with this condition typically develop redness on the cheeks between ages 3 months and 6 months.
Mutations in the werner syndrome wrn, blooms syndrome blm, and recq proteinlike 4 recql4 genes areresponsible for the humandisorders wernersyndrome, blooms syndrome, and rothmundthomson syndrome, respectively 3. Rothmundthomson syndrome orphanet journal of rare diseases. The term progeroid syndrome does not necessarily imply progeria hutchinsongilford progeria syndrome, which is a specific type of progeroid syndrome progeroid means resembling premature aging, a definition that can apply to a. In 1923 and 1936 matthew sydney thomson reported a similar disorder which he designated poikiloderma congenitale. Rothmundthomson syndrome nord national organization. Life expectancy of people with rothmund thomson syndrome and recent progresses and researches in rothmund thomson syndrome world map of rothmund thomson syndrome view more toggle navigation. Patients with rts often present early in life with skeletal and dental abnormalities, short stature, juvenile cataracts, and a characteristic poikilodermal rash. The range and severity of symptoms may vary from case to case. These skin problems persist for life, and are collectively known as poikiloderma. Poikiloderma congenitale is a distinctive atrophic dermatosis with onset during infancy. Pdf rothmundthomson syndrome rts is a genodermatosis presenting with a. Rothmundthomson syndrome rts is an extremely rare genetic condition exhibiting some dermatological, craniofacial, ophthalmological, and central nervous system abnormalities. Rothmundthomson syndrome rts is an autosomal recessive disorder caused by biallelic mutations in recql4, a helicase involved with chromosomal instability and dna repair. Parp1, which is involved in a competing endjoining.
Rothmundthomson syndrome foundation guidestar profile. Rothmundthomson syndrome manavi s, mahajan vk indian. Rothmund thomson syndrome rts is a rare autosomal recessive disorder of which approximately 300 cases have been reported in the literature. Jan 28, 2006 rothmundthomson syndrome rts is a rare autosomal recessive genodermatosis with a heterogeneous clinical profile.
Rothmundthomson syndrome is also known as poikiloderma congenitale. Rothmundthomson syndrome, or poikiloderma congenitale, is a rare autosomal recessive disorder attributed to mutations of the recql4 helicase gene on 8q24. Susceptibility to sinus and pulmonary infections was cured by monthly immunoglobulin infusio. Clinical manifestations in a cohort of 41 rothmundthomson syndrome patients. The national organization for rare disorders nord has a report for patients and families about this condition. Rothmundthomson syndrome or poikiloderma congenitale is a rare genophotodermatosis of autosomal recessive inheritance, featuring a dna damage. This gene encodes for the enzyme dna helicase which unwinds dna deoxyribonucleic acid. Rothmundthomson syndrome rts is a genodermatosis presenting. Case report multiple low energy long bone fractures in the setting of rothmundthomson syndrome nicholasbeckmann university of texas health science center,fannin street, msb. The clinical presentation of rothmundthomson syndrome rts patients is extremely. Rothmund thomson syndrome an overview sciencedirect topics. In particular, she shows early solar skin damage atid it is probable that further skin cancers will. A 28yearold male, previously diagnosed with rts, developed a. Some affected children develop a clouding of the lens of the eye, which affects vision.
Rothmundthompson syndrome definition of rothmundthompson. Rothmund thomson syndrome rts is an extremely rare genetic condition exhibiting some dermatological, craniofacial, ophthalmological, and central nervous system abnormalities. Recently, recql4 was identified as the gene responsible for some cases of rothmundthomson syndrome rts, a rare autosomal recessive genetic disorder that shows chromosomal instability, premature aging, and a high risk of mesenchymal tumors. Rothmundthomson syndrome genetic and rare diseases.
Rothmund thomson syndrome rts is a genodermatosis presenting with a characteristic facial rash poikiloderma associated with short stature due to pre and postnatal growth delay, sparse scalp hair, sparse or absent eyelashes andor eyebrows, juvenile cataracts, skeletal abnormalities, radial ray defects, premature aging and a predisposition. Mar 10, 2016 given the rarity of rothmund thomson syndrome, the likelihood that an affected person will have children with a carrier is very low. Rothmund thomson syndrome is a rare autosomal recessive genodermatosis characterized by a poikilodermatous rash starting in infancy as well as various skeletal anomalies, juvenile cataracts, and predisposition to certain cancers. Rothmund thomson syndrome is a rare genetic disorder that manifests in early infancy. Atypical meningioma as a solitary malignancy in a patient. Rothmund thomson syndrome rts is a rare autosomal recessive disorder diseases which occur only with 2 copies of an abnormal gene one inherited from both parents. Rothmund thomson syndrome rts is a rare genetic disorder that can affect people of all races and nationalities. Recql4 localizes to mitochondria and preserves mitochondrial. At least 300 cases have been reported in medical journals since a case was first described by rothmund in 1868. This white boy was born after a 33week pregnancy and weighed 1,750 gm 3 lb 14 oz. 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.
Rothmundthomson syndrome genetics home reference nih. Recq helicases are required for normal cellular dna replication, repair, and recombination. Multiple malignant diseases in a patient with rothmundthomson syndrome with recql4 mutations. Rothmundthomson syndrome is due to a genetic defect, in which there are mutations in the recql4 gene on chromosome 8. The erythematous rash affected the cheeks initially. Key features include early photosensitivity and poikilodermatous skin changes, juvenile cataracts, skeletal dysplasias, and a predisposition to osteosarcoma and skin cancer. An increased incidence of certain malignancies has been reported. Rothmundthomson syndrome rts is a rare autosomal recessive disorder.
This gene provides instructions for making a protein whose function is not well understood, although researchers believe that it helps stabilize genetic information in the bodys cells. Treatment includes the use of pulsed dye laser photocoagulation to improve. Rothmund thomson syndrome rts is an autosomal recessive disorder characterized by skin abnormalities that appear in infancy, skeletal abnormalities, juvenile cataracts and other manifestations of premature aging, and a predisposition to malignancy. The disorder is characterized by distinctive abnormalities of the skin, sparse hair, eyelashes andor eyebrows, small stature, skeletal and dental abnormalities, and an increased risk of cancer, especially bone cancer osteosarcoma. Syndrome of rothmund thompson congenital atrophic poikiloderma in pregnant woman abstract congenital poikiloderma syndrome, also called rothmund thomson syndrome, is a rare autosomal recessive genodermatosis due to a recq4 gene mutation on chromosome 8. Rothmund thomson syndrome rts, is a rare autosomal recessive skin condition. Dermis rothmundthomson syndrome information on the diagnosis. Dna repair including nonhomologous end joining, nucleotide excision repair and base excision. Omim 268400 have now been reported in the english literature. Enable javascript to view the expandcollapse boxes.
These syndromes are also characterized by radial ray defects, skeletal abnormalities, and slow growth. Rothmundthomson syndrome rts is a rare autosomal recessive disorder diseases which occur only with 2 copies of an abnormal gene one inherited from both parents. It was first described in 1868 by a german ophthalmologist rothmund1 and later in 1936 by an english dermatologist thomson2 who reported another three similar patients but the oponym. The abnormal gene makes the chromosomes unstable, altering the growth of cells in many tissues. We describe a patient with rothmund thomson syndrome and igg 4 deficiency. Md covering presentation, diagnosis, workup, treatment and followup. Rothmund s syndrome is a rare form of apparently heredofamilial ectodermal dysplasia table i, first described in 1868 1. Rothmund thomson syndrome is a rare autosomal recessive syndrome caused by homozygous or compound heterozygous mutations in recql4 gene. Case report multiple low energy long bone fractures in the. Therapyrelated myelodysplasia in a patient with rothmund. Inhibition of helicase activity by a small molecule. Mutations in recql4, encoding a recq dna helicase, are present in a large fraction, but not all clinically diagnosed patients, allowing to classify rts among the recq helicase chromosomal instability defects including blooms and werners syndromes.
Rothmundthomson syndrome rts is a rare genetic disorder that can affect people of all races and nationalities. B kerr, g s ashcroft, d scott, m a horan, m w ferguson, and d donnai. In vitro examination of his peripheral mononuclear cells revealed impaired igg 4 synthesis. Patients can have just a few or several features of the syndrome. Pdf oral findings of rothmundthomson syndrome peruze.
Treatment of skin erythema and sun sensitivity and periodontitis in early. The signs and symptoms of rothmund thomson syndrome include a redness on the cheeks developed between the ages of 3 and 6 months. Additional loss of the tumor suppressor tp53 switches tumor development to t cell lymphoma. Dec 03, 20 miss world 2019 toniann singh plans to go to medical school good morning britain duration. A large head with an frontal bossing and broad low nasal bridge has been. Jan 29, 2010 rothmund thomson syndrome rts is a genodermatosis presenting with a characteristic facial rash poikiloderma associated with short stature, sparse scalp hair, sparse or absent eyelashes andor eyebrows, juvenile cataracts, skeletal abnormalities, radial ray defects, premature aging and a predisposition to cancer. Rothmund thomson syndrome, or poikiloderma congenitale, is a rare autosomal recessive disorder attributed to mutations of the recql4 helicase gene on 8q24. Multiple malignant diseases in a patient with rothmund.
Rothmundthomson syndrome rts is a rare genetic disorder that can affect many parts of the body. A hereditary basis, mutations in the dna helicase recql4 gene, causing problems during initiation of dna replication has been implicated in the syndrome. Successful umbilical cord blood stem cell transplantation in a patient with rothmund thomson syndrome and combined immunodeficiency. Jun 18, 2018 rothmund thomson syndrome, or poikiloderma congenitale, is a rare autosomal recessive disorder attributed to mutations of the recql4 helicase gene on 8q24. S ir, rothmund thomson syndrome rts, also called poikiloderma congenitale, is a rare autosomal recessive inherited disorder characterized by a generalized rash, which first appears in infancy, and skeletal abnormalities and malignancies. Rothmund thomson syndrome rts is a rare autosomal recessive disorder characterized by genomic instability and increased risk of various malignancies, especially osteosarcoma and squamous cell carcinoma. Although rothmund thomson syndrome is associated with diminished bone mineral density in addition to multiple skeletal abnormalities, there are few reports of the. Rothmund thomson syndrome type 2 rts2 is an autosomal recessive disorder characterized by poikiloderma, congenital bone defects, and an increased risk of osteosarcoma in childhood and skin cancer later in life. Overview of schwartzjampel syndrome verywell health. Mutations in the werner syndrome wrn, blooms syndrome blm, and recq proteinlike 4 recql4 genes areresponsible for the humandisorders wernersyndrome, blooms syndrome, and rothmund thomson syndrome, respectively 3. The authors describe a child with poikiloderma congenitale, psychomotor retardation, growth retardation, radial hypoplasia, absence of the thumbs, and foci of abnormal bone in many of the long bones. Rothmund thomson syndrome is a rare, autosomal recessive disorder associated with characteristic cutaneous changes, sparse hair, juvenile cataracts, short stature, skeletal defects, dystrophic teeth and nails, and hypogonadism. Rothmundthomson syndrome rts, is a rare autosomal recessive skin condition. The varied signs and symptoms of rothmundthomson syndrome overlap with features of other disorders, namely ballergerold syndrome and rapadilino syndrome.
Home cancer types rare and related disorders rothmund thomson syndrome. Nord is a patient advocacy organization for individuals with rare diseases and the organizations that serve them. Human pluripotent stem cellbased models suggest preadipocyte. This is a possible case of rothmundthomson syndrome. Foster worldwide awareness and education about rts and related disorders and to encourage research through support of scientists and physicians devoted to studying the clinical spectrum, molecular and cellular basis of recql4 and related syndromes. It is closely related to werners syndrome, progeria of the adult table ii, and frequently in the past it was misdiagnosed as scleroderma 1. A large head with an frontal bossing and broad low nasal bridge has been described. Rothmundthomson syndrome is a rare, autosomal recessive genodermatosis characterized by an earlyonset poikiloderma, skeletal abnormalities, short stature, premature aging, and increased. Over time the rash spreads to the arms and legs, causing patchy changes in skin coloring, areas of thinning skin atrophy, and small.
Rts is typically characterized by skin rash, sparse hair, malformed bones, abnormal clouding of the lenses of the eyes juvenile cataracts, small stature, and other physical abnormalities. Genetic and rare diseases information center gard po box 8126, gaithersburg, md 208988126 tollfree. Progeroid syndromes ps are a group of rare genetic disorders which mimic physiological aging, making affected individuals appear to be older than they are. Rothmundthomson syndrome rts is a rare autosomal recessive genodermatosis with a heterogeneous clinical profile. Rothmundthomson syndrome rts is characterized by poikiloderma. Poikiloderma, rothmund thomson syndrome case report a twoyearold chinese boy was noted to have itchy eruption on face when he was three months old. Clinically it is characterized by atrophic degeneration and abnormal skin pigmentation, starting in childhood. If you have problems viewing pdf files, download the latest version of adobe reader. For language access assistance, contact the ncats public information officer. Genetics home reference ghr contains information on rothmund.
1593 1255 1390 561 836 600 232 800 970 1180 1244 320 202 1048 72 156 702 1578 1084 2 961 1571 560 1382 323 534 1433 1206 757 679 435 593 488 637