Rothmund-thomson syndrome Q82.85

The syndrome was first described in 1886 by the German ophthalmologist August von Rothmund. In 1936, the British physician Matthew Sydney Thomson published two cases of the disease, which later turned out to be identical to Rothmund's first description. The disease was named after both scientists as Rothmund-Thomson syndrome.

In English-language literature, Rothmund 's syndrome and Thomson's syndrome are grouped under this term. S.a.under poikiloderma; s.a. under genodermatoses, tumor-associated.

Rothmund-Thomson syndrome (RTS) is characterized by poikilodermic skin changes with sparse hair, eyelashes, and/or eyebrows. Furthermore, skeletal and dental abnormalities, juvenile cataract and an increased risk of cancer, especially osteosarcoma. A variety of benign and malignant hematologic abnormalities have been reported in affected individuals.

Poikiloderma typically develops between the third and sixth months of life (occasionally as late as two years of age) with erythema, circumscribed swelling, and blistering of the face. Later, these characteristic skin lesions spread to the buttocks and extremities.

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. Skeletal abnormalities include dysplasia of the radius and ulna, absent or hypoplastic patella, and osteopenia.

Rothmund-Thomson syndrome is a very rare disease (<400 patients are published worldwide). No reliable data are available regarding the prevalence. According to the autosomal recessive mode of inheritance, most cases of RTS are not isolated cases, but occur familially clustered, predominantly in consanguineous families or small communities.

Mutation of the gene RTS, RECQL4, mapped to gene locus 8q24.3, with consecutive disruption of DNA helicase RECQL4.

RASopathies with poikiloderma of normally intelligent patients, skeletal malformations (saber sheath tibia, small hands and feet, hypoplastic thumbs and dental anomalies), growth retardation, nail dystrophy, hypotrichosis, palmar, more rarely palmo-plantar, predominantly papular hyperkeratoses (see also tumor-associated genodermatoses). Often photosensitivity occurs in addition with spinocellular carcinomas and basal cell carcinomas. 50% of the patients show cataract formation already in childhood. There is an increased risk of osteosarcoma.

Laser: Laser treatment (argon, pulsed dye laser) leads to cosmetic improvements in facial telangiectasia.

Dermabrasio: Only moderate success is achieved by grinding the skin.

Further: Bland skin care e.g. with ash base cream, Linola cream, Eucerin cum aq., if necessary with urea-containing preparations.

Light protection: Textile or chemical/physical light protection with potent sunscreens (SPF > 30, e.g. Anthelios, Contralum ultra), since sun exposure probably increases the skin changes in the long term.

The distinction between Thomson syndrome and Rothmund-Thomson syndrome is no longer common today. In this respect, the nameRothmund-Thomson syndrome prevails. This syndrome, as well as Baller-Gerold syndrome, and RAPADILINO syndrome are associated with mutations in the RECQL4 gene. Because of the multiple overlapping signs and symptoms of these syndromes, it is believed that they are a single genotypically similar syndrome with different phenotypes and overlapping symptoms.

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