Rothmund–Thomson syndrome (RTS) is a rare autosomal recessive skin condition. There have been several reported cases associated with osteosarcoma. A hereditary basis, mutations in the DNA helicase RECQL4 gene, causing problems during initiation of DNA replication has been implicated in the syndrome. Signs and symptoms
Sun-sensitive rash with prominent poikiloderma and telangiectasias
Juvenile cataracts
Saddle nose
Congenital bone defects, including short stature and radial ray anomalies such as absent thumbs
Hair growth problems (absent eyelashes, eyebrows and/or hair)
Hypogonadism has not been well documented
Hypodontia
Calcium problems (not documented in journals)
Ear problems (not documented in journals but identified by patients in support groups)
Produces osteosarcomaThe skin is normal at birth. Between 3 and 6 months of age, the affected carrier develops poikiloderma on the cheeks. This characteristic "rash" that all RTS carriers have can develop on the arms, legs and buttocks. "Poikiloderma consists of areas of increased and decreased pigmentation, prominent blood vessels, and thinning of the skin." Accelerated aging
In humans, individuals with RTS, and carrying the RECQL4 germline mutation, can have several clinical features of accelerated aging. These features include atrophic skin and pigment changes, alopecia, osteopenia, cataracts and an increased incidence of cancer. Also in mice, RECQL4 mutants show features of accelerated aging. Causes
RTS is caused by a mutation of the RECQL4 gene, located at chromosome 8q24.3. The disorder is inherited in an autosomal recessive manner.
Cochlear implants are sometimes an option to restore hearing. Such treatments are typically taken to comfort the patient, not to cure the disease or damage caused by ototoxicity. There is no cure or restoration capability if the damage becomes permanent, although cochlear nerve terminal regeneration has been observed in chickens, which suggests that there may be a way to accomplish this in humans. References
External links

OSHA-NIOSH 2018. Preventing Hearing Loss Caused by Chemical (Ototoxicity) and Noise Exposure Safety and Health Information Bulletin (SHIB), Occupational Safety and Health Administration and the National Institute for Occupational Safety and Health. SHIB 03-08-2018. DHHS (NIOSH) Publication No. 2018-124. https://doi.org/10.26616/NIOSHPUB2018124
The Ear Poisons, The Synergist, American Industrial Hygiene Association, 2018. World Report on Hearing, World Health Organization, 2021.
International Ototoxicity Management Group.