Trichothiodystrophy
Overview
A rare inherited skin disorder characterized by red, dry, scaly skin (I - ichthyosis), brittle hair (B), impaired physical and mental development (I), decreased fertility (D) and short stature (S). It is the same as PIBIDS syndrome but doesn't involve photosensitivity.
Symptoms
* Birth * Fine, dark skin scales * Retarded growth * Mental retardation * Lack of subcutaneous fat * Short hair * Brittle hair * Dysplastic nails * Congenital cataracts * Spasticity * Impaired ability to control voluntary movements * Decreased fertility * Dry scaly skin * Sulfur deficiency in hair * Sparse hair * Delayed physical development * Red skin * Prematurely aged appearance * Beaked nose * Receding chin * Protruding ears * Low birth weight * Short stature * Neurosensory deafness * Seizures * Tremors * Undescended testes * Underdeveloped female genitalia * Absence of female breast tissue
Prognosis
The 'prognosis' of IBIDS syndrome usually refers to the likely outcome of IBIDS syndrome. The prognosis of IBIDS syndrome may include the duration of IBIDS syndrome, chances of complications of IBIDS syndrome, probable outcomes, prospects for recovery, recovery period for IBIDS syndrome, survival rates, death rates, and other outcome possibilities in the overall prognosis of IBIDS syndrome. Naturally, such forecast issues are by their nature unpredictable.
Treatment
Tay-Sachs disease has no known cure. Supportive treatment includes tube feedings of nutritional supplements, suctioning and postural drainage to remove pharyngeal secretions, skin care to prevent pressure ulcers in bedridden children, and mild laxatives to relieve neurogenic constipation. Anticonvulsants usually fail to prevent seizures. Because these children need constant physical care, many parents have full-time skilled home nursing care or place them in long-term special care facilities.
Resources
Other names: PIBIDS syndrome or IBIDS syndrome