Ectodermal Dysplasia Syndrome

There are three main types of EB. Each is caused by a different mutation. The most common type of EB is Epidermolysis Bullosa simplex (EBS). This variation is unlike the other two in the fact that it is autosomal dominant. The gene that is mutated is called keratin 14 or KRT14 for short. This gene in particular codes for keratins, a type of protein that forms skin, hair and nails. There are over 60 mutations that have been found in people living with EBS from this gene alone. Keratin 14 is located on chromosome 17.

Achondroplasia (ACH) is the most common form of short-limb dwarfism occuring in 1 in 15,000 to 28,000 births and appears to be slightly more prevalent in females, but indiscriminent toward race (1-3). Evidence has been found in Egypt for cases of ACH dating back as far as 4500 B.C. (4). In simplest terms, ACH is a disease where the dwarfing of bones formed in the cartilage occurs (5). There are many features that accompany this disease including rhizomelic (proximal) shortening of the extremities, megalencephaly (enlarged brain), short stature, trident hand, and frontal bossing (prominent forehead) (1, 3, 4, 6-8). Expression of this gene at high levels is primarily found in cells of the nervous system and the cartilage rudiments and

Hypophosphatemia (vitamin D-resistant rickets) is inherited as an sex-linked dominant trait. The relevant gene is found on the X chromosome

normally patients with these syndromes were sterile, and Eric had little body hair and had told him he never

. . M, P. (2015, October 27). An Overview of Human Genetic Disorders with Special Reference to African Americans. Retrieved November 16, 2017, from https://www.omicsonline.org/open-access/an-overview-of-human-genetic-disorders-with-special-reference-to-africanamericans-2155-9821-1000e139.php?aid=63273

And this disorder affects the skin, hair and nails. This happened because the layer that is in charge of these things when the fetus was being created failed to develop. Malanie Gaydos, who is a model, has this genetic information she lacks hair, teeth, nails and her skin is very sensitive. She has learned to embrace this disorder and is now living her

Skin tags are made up of loose collagen fibres and blood vessels surrounded by the skin, collagen is found throughout the body.

McCune-Albright syndrome (MAS) is a disorder caused by a non-inherited mutation of GNAS1 gene. Clinical manifestations of the disorder include one or more of the following: (1) polyostotic fibrous dysplasia (PFD), (2) café-au-lait skin pigmentation, and (3) endocrine hyperfunction, usually early puberty in girls but also may include other endocrine abnormalities like pituitary gigantism and Cushing syndrome. It is a rare disease with estimated prevalence between 1/100,000 and 1/1,000,000. Prognosis is good if it is diagnosed and treated promptly. Most mortality is associated with PFD. Diagnosis may include hormone level monitoring, imaging and GNAS1 genetic testing. Treatment is dictated by the tissues

In 2010, Cocciolone et.al. suggested a connection between desmoplastic melanoma and BHD in a 58 year old patient as a result of mTOR up-regulation. There are 6 other cases of melanoma reported in patients with a BHD mutation; although quite possibly the event could be coincidental and a direct link cannot be confirmed (Cocciolone et al. 2010)(Leter et al. 2008).

Ectopia cordis is a rare disease that it is the abnormal position of the heart outside the thorax associated with defects in the parietal pericardium, diaphragm, sternum, and, in most cases, cardiac malformations As of 2001, 267 patients have been reported 102 (39.2%) of the thoracic type and 99 (38%) of the thoracoabdominal type. Ninety percent of the infants died in the first year of life. Cases of the cervical type rarely survive a single day. Most (95%) newborns have associated cardiac malformations. There is no cure for this disease, however with surgery and physical therapy there is a slim chance of survival. There are two know cases of survival, with sever retardation.

They both had hypospadias since birth, and were referred to our hospital. Severe hypospadias, micropenis, and bifid scrotum were observed in each patient, but no vulvar pigmentation. Palpation revealed bilateral testis within the scrotum in Case 3. Case 4 has bilateral cryptorchidism. Genetic sequence analysis revealed a c.731G>A: p.G244E mutation in WT1 and a c.557c>T: p.T186M mutation in ZFPM2 in Case 3, and a c.425A>G, p.Gln142Arg WT1 gene mutation in Case 4. Abdominal ultrasonography and ophthalmologic examination did not indicate abnormal findings at the present time, and neither kidney function disorder nor proteinuria was detected. Endocrinologic evaluation and urinary steroid profile revealed no abnormal findings. Chromosomal examination was 46, XY, and SRY-FISH positive in all four

Childhood is a time for frolicking and having fun. A time to explore, to discover, to interact with other children, a time to be carefree, but imagine a child who will never know what is like to run and jump, to play games with others and not worry about anything, because even the slightest physical contact will damage his or her skin. Many children are born with many different diseases. One of the rarest and difficult diseases is Epidermolysis Bullosa, a rare skin disease. Even though this is a rare disease, there is a tremendous amount of knowledge to it and many researchers looking for a cure. Epidermolysis is in a group of inherited diseases that are characterized by blistering lesions on the skin’s surface and in the mucous membranes.

Ectodermal dysplasia is not a single disorder, but a group of syndromes all deriving from abnormalities of the ectodermal structures.More than 150 different syndromes have been identified.Despite some of the syndromes having different genetic causes the symptoms are sometimes very similar. Diagnosis is usually by clinical observation often with the assistance of family medical histories so that it can be determined whether transmission is autosomal dominant or recessive.Worldwide around 7,000 people have been diagnosed with an ectodermal dysplasia condition. Some ED conditions are only present in single family units and derive from very recent mutations. Ectodermal dysplasias can occur in any race but are common in caucasians than any other group and especially in fair caucasians.Ectodermal dysplasias are described as "heritable conditions in which there are abnormalities of two or more ectodermal structures such as the hair, teeth, nails, sweat glands, salivary glands, cranial-facial structure, digits and other parts of the body.

Have you ever felt a butterfly wings? Do you recall how fragile they were? Now imagine your very own skin being that fragile. This is exactly the case in 7 year - old Hassan’s life. Hassan was diagnosed with a rare genetic disease, at a week old, called epidermolysis bullosa. Epidermolysis bullosa is an incurable disease that causes blisters and erosion of the skin. This disease has affected over 500,000 people worldwide, while 40% of patients die before adolescence. Hassan luckily, was diagnosed and treated in Germany. In 2015, his condition worsened and he wasn’t expected to survive due to sepsis and 60% of his epidermis gone. All hope was lost until his doctors reached out to Dr. Michele De Luca. Dr. Michele De Luca was

“A case of congenital absence of hair with atrophic condition of the skin and its appendages”.