Ehlers Danlos Syndrome
Alterations of the connective tissue in the skin may lead to a variety of cutaneous diseases that may be localized to only the skin or involve other internal organs. The connective tissue meshwork is essential during embryonic development and maintenance of tissues and organ development.
Ehlers-Danlos Syndrome (EDS) is comprised of a group of at least eleven to date presentations that involve the collagen in the skin resulting in fragile, hyperextensible, soft velvety skin. EDS named by Dr. Ehlers and Danlos, Danish and French dermatologists who initially described this syndrome in the early 1900s. Although all “flavors” of this syndrome may have impact on one’s quality of life, the vascular type (type IV) may lead to significant shortened lifespan and death, if led untreated. The symptoms and disease onset is governed based on the mutation in the affected collagen gene.
A classic and most common presentation is the “Classic” EDS type which is broken down into type I (gravis) and II (mitis) which is inherited in an Autosomal dominant fashion—meaning if you get the abnormal gene from only one parent you will have the disease. Patients with classic type present with hyperextensible skin, joint laxity and skin fragility (impaired wound healing). Skin is so fragile and often likened to having a “cigarette paper” texture. Patients should be evaluated by a cardiologist to examine for prolapse of the mitral valve in the heart. Patients with this syndrome may have the special ability to touch their tip of their tongue to the tip of their nose.
Striking joint hyperextensibility and frequent joint dislocations with minimal skin involvement are assigned to type III EDS; also known as the “hypermobility” subtype. This type is also inherited in an autosomal dominant fashion (mutation in the gene called Tenascin). Patients should be evaluated for severe degenerative joint disease and some with advanced disease may require ongoing physical and occupational therapy.
As noted above, type IV EDS also known as the vascular subtype involves an autosomal dominant mutation in type III collagen (found in blood vessels). Imagine the infamous scene in the Twilight series where Edward Cullen stands in the sunlight and appears translucent. These patients often present with thin translucent skin, visible veins and extensive bruising. Cardiology and dermatology management is essential as these patients may experience severe life-threatening bleeds due to material fragility. Patients are at high risk for arterial and bowel ruptures and pregnancies may be complicated by uterine rupture. Patients should seek close follow-up with specialists, including high risk maternal fetal medicine for pregnant patients.
Deformity of the spine characterized by abnormal curvature of the vertebral column is known as kyphoscoliosis. Kyphoscoliosis EDS type (also known as type VI EDS) is caused by an autosomal recessive mutation in Lysyl hydroxylase gene. In addition to abnormal curvature of the spine, patients may suffer from respiratory problems, muscle weakness and eye issues, including glaucoma and retinal detachment.
The other types of Ehlers Danlos syndrome are less commonly encountered and managed similar to the types noted above. Unfortunately, to date, there are no specific curative treatments available for any of the subtypes of EDS. Physical therapy and surgery to repair damaged, injured joints is essential. Avoidance of trauma to the skin (wear protective clothing, shin guards and avoid contact sports). Discussing with a geneticist and reproductive counseling is important in early diagnosis and optimal management of potential complications.