A Female Patient with the Rothmund-Thomson Syndrome Associated with Anhidrosis and Severe Infections of the Respiratory Tract

Snels, Dyon G.C.T.M.; Bavinck, Jan Nico Bouwes; Müller, H; Vermeer, Bert-Jan

doi:10.1159/000017888

Cited by 14 publications

(12 citation statements)

References 12 publications

Supporting

Mentioning

Contrasting

Order By: Relevance

“…None of the more common conditions causing chronic bronchitis and bronchiectasis such as cystic fibrosis, ciliary dyskinesia, humoral immune deficiencies, or chronic aspiration, were present in the current patients 5 . It is noteworthy that both children did not have IgG4 deficiency 7 or decreased T‐cell reactivity 6 as previously reported.…”

Section: Discussionsupporting

confidence: 76%

See 1 more Smart Citation

Bronchiectasis in two pediatric patients with Rothmund–Thomson syndrome

Reix¹,

Derelle²,

Levrey-Hadden³

et al. 2007

Pediatrics International

View full text Add to dashboard Cite

Since the descriptions by Dr Rothmund in 1868 1 and by Dr Thomson in 1923, 2 less than 250 cases of RothmundThomson Syndrome (RTS) have been reported in the medical literature. Acute photodistributed reticular erythema with poikiloderma is consistently present, in keeping with the seminal descriptions. 2 Growth retardation, radial ray malformations, juvenile cataract, and a predisposition to malignancies may also be present. 3,4 Bronchiectasis is an uncommon disease in children that can lead to severe illness. 5 Lower respiratory tract infections in patients with RTS have rarely been described, 6,7 but bronchiectasis has never previously been reported. We report two cases of RTS in which localized bronchiectasis developed. Case reports Patient 1This European girl born in 1990 was the second child of nonconsanguineous parents. She was born at full term with normal weight (3.2 kg) and length (50 cm). RTS was suspected at 5 months of age and diagnosed at 16 months of age because of development of reticular erythema on face and dorsal aspects of the hands, followed by facial poikiloderma and erythema, together with sparse eyebrows and onyxis. Spots of skin hypoor hyperpigmentation developed later. There were no limb abnormalities or cataract. Growth was moderately retarded (−1.5 SD for height and −2 SD for weight). Puberty occurred at the normal age. A karyotype on skin fi broblasts showed multiple spontaneous chromosome breaks (1, 2, 6, 15, 16), whereas a nucleotide excision repair study (recovery of RNA synthesis) on skin fi broblasts revealed normal results. She was suggested as being a compound heterozygote for the mutations in the RECQL4 genes: (1048-1049delAG) in exon 5 and (1149G>A/ W383X) in exon 6.Upper and lower respiratory tract infections occurred early in childhood and were followed by a history of chronic bronchitis with copious sputum production. Atelectasis of the left lower lobe was fi rst observed on a chest radiograph taken at 18 months of age. At 6 years old, localized bronchiectasis was found in the left lower lobe and confi rmed by computed tomography (CT) scan of the chest ( Fig. 1a). Pulmonary function tests (PFT) performed prior to surgery were normal ( Table 1). Due to recurrent bronchitis exacerbations originating from the focus of bronchiectasis (confi rmed on endoscopic fi ndings), a left lower lobectomy was performed at 6 years of age. After a brief improvement, the respiratory symptoms recurred. Another focus of bronchiectasis was found in the left Fowler lobe at 8 years of age and was removed by partial lobectomy 3 years later. This second procedure produced a sustained clinical improvement. The sweat test and ciliary motility study were normal. There was no previous clinical history of chronic aspiration and pH study was normal. Several routine immunological investigations were normal ( Table 2). Patient 2This European boy born in 1990 with normal birthweight (3.1 kg) and length (49 cm) was the fi rst child of non-consanguineous parents. Radial and thumb hypoplasia were observed at bi...

show abstract

Section: Discussionsupporting

confidence: 76%

“…Bronchiectasis is an uncommon disease in children that can lead to severe illness 5 . Lower respiratory tract infections in patients with RTS have rarely been described, 6,7 but bronchiectasis has never previously been reported. We report two cases of RTS in which localized bronchiectasis developed.…”

mentioning

confidence: 99%

Bronchiectasis in two pediatric patients with Rothmund–Thomson syndrome

Reix¹,

Derelle²,

Levrey-Hadden³

et al. 2007

Pediatrics International

View full text Add to dashboard Cite

show abstract

“…However, since Rothmund–Thomson syndrome is associated with an increased incidence of cutaneous malignancies (squamous and basal cell carcinoma) as well as extracutaneous malignancies (malignant fibrous histiocytoma and osteogenic sarcoma) (11,18), vigilance for the development of both associated hematologic abnormalities and neoplasms is warranted. Moreover, further investigations are required in order to understand the relationship between myelodysplasia and RTS, which might not be purely coincidental, but rather are probably related to the underlying defective DNA repair process (19).…”

Section: Discussionmentioning

confidence: 99%

Rothmund‐Thomson Syndrome (Thomson‐Type) and Myelodysplasia

Pianigiani

Aloe

Andreassi

et al. 2001

Pediatric Dermatology

View full text Add to dashboard Cite

Rothmund-Thomson syndrome (RTS) is a genetic disease characterized by developmental abnormalities and poikilodermatous skin changes that appear in infancy. An association with myelodysplastic syndromes is rarely reported in RTS, even though impairment of immune function and recurrent infections are described in the literature. 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.

show abstract

“…Lower respiratory tract infections have been rarely reported in patients with RTS [34]. Bronchiectasis was described in an RTS patient who had died of acute myeloblastic leukaemia [14].…”

Section: Clinical Descriptionmentioning

confidence: 99%

Rothmund-Thomson syndrome

Larizza

Roversi

Volpi

2010

Orphanet J Rare Dis

250

276

View full text Add to dashboard Cite

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 and/or eyebrows, juvenile cataracts, skeletal abnormalities, radial ray defects, premature aging and a predisposition to cancer. The prevalence is unknown but around 300 cases have been reported in the literature so far. The diagnostic hallmark is facial erythema, which spreads to the extremities but spares the trunk, and which manifests itself within the first year and then develops into poikiloderma. Two clinical subforms of RTS have been defined: RTSI characterised by poikiloderma, ectodermal dysplasia and juvenile cataracts, and RTSII characterised by poikiloderma, congenital bone defects and an increased risk of osteosarcoma in childhood and skin cancer later in life. The skeletal abnormalities may be overt (frontal bossing, saddle nose and congenital radial ray defects), and/or subtle (visible only by radiographic analysis). Gastrointestinal, respiratory and haematological signs have been reported in a few patients. RTS is transmitted in an autosomal recessive manner and is genetically heterogeneous: RTSII is caused by homozygous or compound heterozygous mutations in the RECQL4 helicase gene (detected in 60-65% of RTS patients), whereas the aetiology in RTSI remains unknown. Diagnosis is based on clinical findings (primarily on the age of onset, spreading and appearance of the poikiloderma) and molecular analysis for RECQL4 mutations. Missense mutations are rare, while frameshift, nonsense mutations and splice-site mutations prevail. A fully informative test requires transcript analysis not to overlook intronic deletions causing missplicing. The diagnosis of RTS should be considered in all patients with osteosarcoma, particularly if associated with skin changes. The differential diagnosis should include other causes of childhood poikiloderma (including dyskeratosis congenita, Kindler syndrome and Poikiloderma with Neutropaenia), other rare genodermatoses with prominent telangiectasias (including Bloom syndrome, Werner syndrome and Ataxia-telangiectasia) and the allelic disorders, RAPADILINO syndrome and Baller-Gerold syndrome, which also share some clinical features. A few mutations recur in all three RECQL4 diseases. Genetic counselling should be provided for RTS patients and their families, together with a recommendation for cancer surveillance for all patients with RTSII. Patients should be managed by a multidisciplinary team and offered long term follow-up. Treatment includes the use of pulsed dye laser photocoagulation to improve the telangiectatic component of the rash, surgical removal of the cataracts and standard treatment for individuals who develop cancer. Although some clinical signs suggest precocious aging, life expectancy is not impaired in RTS patients if they do not develop cancer. Outcomes in patients with osteosarcoma are similar in RTS and non-RTS patients, with a five-year survival rate of 60-70%. The...

show abstract

A Female Patient with the Rothmund-Thomson Syndrome Associated with Anhidrosis and Severe Infections of the Respiratory Tract

Cited by 14 publications

References 12 publications

Bronchiectasis in two pediatric patients with Rothmund–Thomson syndrome

Bronchiectasis in two pediatric patients with Rothmund–Thomson syndrome

Rothmund‐Thomson Syndrome (Thomson‐Type) and Myelodysplasia

Rothmund-Thomson syndrome

Contact Info

Product

Resources

About