Rothmund-Thomson syndrome

[MIM 268 400]

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.


References : 


Updated: July 2017