Temporary measures (e.g., those taken pending the availability of an organ donor) include the administration of drugs whose effects include respiratory stimulation, although these drugs are not universally effective in reducing the severity of Cheyne-Stokes apneas. Congenital central hypoventilation syndrome
Congenital central hypoventilation syndrome (CCHS), often referred to by its older name "Ondines curse," is a rare and very severe inborn form of abnormal interruption and reduction in breathing during sleep. This condition involves a specific homeobox gene, PHOX2B, which guides maturation of the autonomic nervous system; certain loss-of-function mutations interfere with the brains development of the ability to effectively control breathing. There may be a recognizable pattern of facial features among individuals affected by this syndrome.Once almost uniformly fatal, CCHS is now treatable. Children who have it must have tracheotomies and access to mechanical ventilation on respirators while sleeping, but most do not need to use a respirator while awake. The use of a diaphragmatic pacemaker may offer an alternative for some patients. When pacemakers have enabled some children to sleep without the use of a mechanical respirator, reported cases still required the tracheotomy to remain in place because the vocal cords did not move apart with inhalation.Persons with the syndrome who survive to adulthood are strongly instructed to avoid certain condition-aggravating factors, such as alcohol use, which can easily prove lethal. Treatment
After a patient receives a diagnosis, the diagnosing physician can provide different options for treatment.
Epidermolysis bullosa simplex (EBS) is a disorder resulting from mutations in the genes encoding keratin 5 or keratin 14.: 598 Blister formation of EBS occurs at the dermoepidermal junction. Sometimes EBS is called epidermolytic. Cause
Absence of keratin-5,14 since birth. Diagnosis
Classification
Epidermolysis bullosa simplex may be divided into multiple types:

Management
No cure for EB
Treat symptoms
Protect skin, stop blister formation, promote healing
Prevent complications
Necessary treatment: use oral and topical steroid for healing and prevent complication
Maintain cool environment, avoid overheating and decreases friction

See also
Epidermolysis bullosa
List of cutaneous conditions caused by mutations in keratins

References
Further reading

GeneReviews/NCBI/UW/NIH entry on Epidermolysis Bullosa Simplex


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