Сімейна шкірна колагенома
ORPHA:53296· ICD-10 L94.8· Familial cutaneous collagenoma
Визначення(English summary)
Familial cutaneous collagenoma is a connective tissue nevus characterized by multiple, flesh-colored asymptomatic nodules distributed symmetrically on the trunk and upper arms (mainly on the upper two-thirds of the back), manifesting around adolescence. The skin biopsy reveals an accumulation of collagen fibers with reduction in the number of elastic fibers. Cardiac anomalies may be observed. Familial cutaneous collagenoma follows an autosomal dominant mode of transmission.
- Поширеність
- <1 / 1 000 000
- Успадкування
- Autosomal dominant
- Вік початку
- Adolescent