What is the Gorlin sign?
In medicine, the Gorlin sign is the ability to touch the tip of the nose or chin with the tongue. Approximately 5 per cent of the general population can perform this act, whereas fifty per cent of people with the inherited connective tissue disorder, Ehlers–Danlos syndrome, can.
What are Molluscoid Pseudotumors?
Molluscoid pseudotumors are small, spongy tumors found over scars and pressure points. Molluscoid pseudotumors consist of fat surrounded by a fibrous capsule. They are commonly seen in patients with type I. Smaller, deep, palpable, and movable nodules are often present in the subcutaneous tissue.
What is vascular Ehlers-Danlos syndrome?
Vascular EDS (vEDS) is a rare type of EDS and is often considered to be the most serious. It affects the blood vessels and internal organs, which can cause them to split open and lead to life-threatening bleeding. People with vEDS may have: skin that bruises very easily.
What are subcutaneous spheroids?
1. Title: Subcutaneous spheroids Definition: Small, hard cyst-like nodules, freely moveable in the subcutis over the bony prominences of the legs and arms, which have an outer calcified layer with a translucent core on x-ray.
Is Gorlin syndrome rare?
Gorlin syndrome affects an estimated 1 in 31,000 people. While more than 1 million new cases of basal cell carcinoma are diagnosed each year in the United States, fewer than 1 percent of these skin cancers are related to Gorlin syndrome.
What is Goltz Gorlin syndrome?
Focal dermal hypoplasia (FDH, MIM #305600), also known as Goltz syndrome or Goltz-Gorlin syndrome, is an X-linked dominant multisystem disorder that is lethal in utero in males [1]. The primary feature of FDH is patchy dermal hypoplasia, with herniation of fat through defects in the dermis.
Does Ehlers-Danlos shorten your life?
Patients with the classical and hypermobility forms of Ehlers-Danlos syndrome have a normal life expectancy. About 80% of patients with vascular Ehlers-Danlos syndrome will experience a major health event by age 40 and the life expectancy is shortened, with an average age of death of 48 years.
Does an MRI show EDS?
Apart from a physical examination, skin biopsies, and genetic testing, imaging tests such as X-rays, computerized tomography (CT), and magnetic resonance imaging (MRI) can also help to confirm a diagnosis of EDS.