Rothmund-Thomson syndrome
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Very rare (< 1/106). Genetic skin disease that combines poikiloderma, short stature as a result of a pre- and postnatal growth delay, and other anomalies depending on the genetic origin. Autosomal recessive transmission. Poikiloderma presents as a facial rash that appears between the age of 3 and 6 months: erythema, swelling and bubbles. This eruption extends to limbs and then to the buttocks. This rash leads to chronic atrophy of the skin with telangiectasia and alternating areas of hyper- and hypopigmentation. There are also dental anomalies (microdontia, hypoplasia), nail dysplasia and palmoplantar hyperkeratosis (30%). Hair and eyebrows are rare and scattered.
There are two clinical types:
1) Rothmund-Thomson type 1 syndrome: of unknown etiology
- poikiloderma
- ectodermal dysplasia
- precocious cataract (2-3 months)
2) Rothmund-Thomson type 2 syndrome: caused by compound heterozygous or homozygous mutations the RECQL4 gene on 8q24.3 in 65% of cases (mosaic trisomy 8 and mosaic supernumerary). This gene is part of the RecQ helicases that are involved in replication, recombination, and DNA repair
- poikiloderma, anhydrosis, subcutaneous osteomas
- bone anomalies: bossing of the forehead, saddle-like nose, anomaly of the radial axis (aplasia or hypoplasia of the thumbs, syndactyly, aplasia of the radius), osteopenia, cysts
- hypogonadism
- moderate intellectual deficit
- risk of osteosarcoma (30%) often multicentric (childhood, adolescence), or squamous (older patients)
A few cases of associated esophageal, pyloric or anal atresia have been described.
Anesthetic implications:
fragile skin, risk of fracture (brittle bones); fragile teeth; risk of hyperthermia in case of anhydrosis; protection against the radiations as there is a possible increased sensitivity to the mutagenic effects of X-rays.
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Updated: July 2017