Related Research Articles
Phocomelia is a congenital condition that involves malformations of human arms and legs which results in a flipper-like appendage. A prominent cause of phocomelia is the mother's use of the drug thalidomide during pregnancy; however, the causes of most cases are to be determined.
Harlequin-type ichthyosis is a genetic disorder that results in thickened skin over nearly the entire body at birth. The skin forms large, diamond/trapezoid/rectangle-shaped plates that are separated by deep cracks. These affect the shape of the eyelids, nose, mouth, and ears and limit movement of the arms and legs. Restricted movement of the chest can lead to breathing difficulties. These plates fall off over several weeks. Other complications can include premature birth, infection, problems with body temperature, and dehydration. The condition is the most severe form of ichthyosis, a group of genetic disorders characterised by scaly skin.
Proteus syndrome is a rare disorder with a genetic background that can cause tissue overgrowth involving all three embryonic lineages. Patients with Proteus syndrome tend to have an increased risk of embryonic tumor development. The clinical and radiographic symptoms of Proteus syndrome are highly variable, as are its orthopedic manifestations.
Lesch–Nyhan syndrome (LNS) is a rare inherited disorder caused by a deficiency of the enzyme hypoxanthine-guanine phosphoribosyltransferase (HGPRT). This deficiency occurs due to mutations in the HPRT1 gene located on the X chromosome. LNS affects about 1 in 380,000 live births. The disorder was first recognized and clinically characterized by American medical student Michael Lesch and his mentor, pediatrician William Nyhan, at Johns Hopkins.
Caudal regression syndrome, or sacral agenesis, is a rare birth defect. It is a congenital disorder in which the fetal development of the lower spine—the caudal partition of the spine—is abnormal. It occurs at a rate of approximately one per 60,000 live births.
Breast hypertrophy is a rare medical condition of the breast connective tissues in which the breasts become excessively large. The condition is often divided based on the severity into two types, macromastia and gigantomastia. Hypertrophy of the breast tissues may be caused by increased histologic sensitivity to certain hormones such as female sex hormones, prolactin, and growth factors. Breast hypertrophy is a benign progressive enlargement, which can occur in both breasts (bilateral) or only in one breast (unilateral). It was first scientifically described in 1648.
Extraordinary People is a television documentary series broadcast on Channel 5 in the United Kingdom. Each programme follows the lives of people with a rare medical condition and/or unusual ability. People featured have or had rare illnesses such as rabies and eye cancer. Many of these people do activities previously thought impossible for people in their condition.
Epidermodysplasia verruciformis (EV) is a skin condition characterised by warty skin lesions. It results from an abnormal susceptibility to HPV infection (HPV) and is associated with a high lifetime risk of squamous cell carcinomas in skin. It generally presents with scaly spots and small bumps particularly on the hands, feet, face and neck; typically beginning in childhood or in a young adult. The bumps tend to be flat, grow in number and then merge to form plaques. On the trunk, it typically appears like pityriasis versicolor; lesions there being slightly scaly and tan, brown, red or looking pale. On the elbows, it may appear like psoriasis. On the forehead, neck and trunk, the lesions may appear like seborrheic keratosis.
Chronic recurrent multifocal osteomyelitis (CRMO) is a rare condition (1:1,000,000), in which the bones have lesions, inflammation, and pain. It is called multifocal because it can appear in different parts of the body, primarily bones, and osteomyelitis because it is very similar to that disease, although CRMO appears to be without any infection.
Hereditary sensory and autonomic neuropathy (HSAN) or hereditary sensory neuropathy (HSN) is a condition used to describe any of the types of this disease which inhibit sensation.
Giantesses are imaginary, gigantic women. They are widely believed to be mythological by the humans of modern-day, since the term "giantess" is so generic, it seems possible to describe female giants not native to Earth which fall under the very forgiving criteria as giantesses. This includes the female giant: either a mythical being, such as the Amazons of Greek mythology, resembling a woman of superhuman size and strength or a human woman of exceptional stature, often the result of some medical or genetic abnormality.
Klippel–Trénaunay syndrome, formerly Klippel–Trénaunay–Weber syndrome and sometimes angioosteohypertrophy syndrome and hemangiectatic hypertrophy, is a rare congenital medical condition in which blood vessels and/or lymph vessels fail to form properly. The three main features are nevus flammeus, venous and lymphatic malformations, and soft-tissue hypertrophy of the affected limb. It is similar to, though distinct from, the less common Parkes Weber syndrome.
Brooke Megan Greenberg was an American woman who became famous for being the first documented case of neotenic complex syndrome. Throughout her life of 20 years, she remained physically and cognitively similar to a toddler despite her increasing age. She was about 30 in (76 cm) tall, weighed about 16 lb (7.3 kg), and had an estimated mental age of nine months to one year.
Parkes Weber syndrome (PWS) is a congenital disorder of the vascular system. It is an extremely rare condition, and its exact prevalence is unknown. It is named after British dermatologist Frederick Parkes Weber, who first described the syndrome in 1907.
Macrocephaly-capillary malformation (M-CM) is a multiple malformation syndrome causing abnormal body and head overgrowth and cutaneous, vascular, neurologic, and limb abnormalities. Though not every patient has all features, commonly found signs include macrocephaly, congenital macrosomia, extensive cutaneous capillary malformation, body asymmetry, polydactyly or syndactyly of the hands and feet, lax joints, doughy skin, variable developmental delay and other neurologic problems such as seizures and low muscle tone.
Beare–Stevenson cutis gyrata syndrome is a rare genetic disorder characterized by craniosynostosis and a specific skin abnormality, called cutis gyrata, characterized by a furrowed and wrinkled appearance ; thick, dark, velvety areas of skin are sometimes found on the hands and feet and in the groin.
Elizabeth Anne Velásquez is an American motivational speaker, activist, writer, and YouTuber. She was born with an extremely rare congenital disease called Marfanoid–progeroid–lipodystrophy syndrome that, among other symptoms, prevents her from accumulating body fat and gaining weight. Her conditions resulted in bullying during her childhood. During her teenage years, she faced cyberbullying, which ultimately inspired her to take up motivational speaking.
CLOVES syndrome is a rare overgrowth syndrome with complex vascular anomalies. CLOVES syndrome affects people with various symptoms, ranging from mild fatty soft-tissue tumors to vascular malformations encompassing the spine or internal organs.
Facial infiltrating lipomatosis (FIL), also referred to as congenital infiltrating lipomatosis of the face or facial infused lipomatosis, is an ultra-rare craniofacial overgrowth condition caused by a genetic mutation of the PIK3CA gene. The condition is a part of the PIK3CA related overgrowth spectrum (PROS). The disease is congenital and non-hereditary. First described by Slavin and colleagues in 1983.
Papillomatosis of the breast (PB) is a rare, benign, epitheliosis-like lesion, i.e. an overgrowth of the cells lining the ducts of glands that resembles a papilla or nipple-like nodule/tumor. PB tumors develop in the apocrine glands of the breast. PB is also termed juvenile papillomatosis because of its frequent occurrence in younger women and Swiss cheese disease because of its microscopic appearance. Rarely, PB has also been diagnosed in very young, adolescent, and adult males.
References
- 1 2 3 "Woman's 11-stone legs may be lost". BBC News. 3 May 2007. Retrieved 31 October 2010.
- ↑ "Mandy Sellars Vows to Walk Despite Rare Illness". 5 March 2013. Retrieved 25 May 2017.
- ↑ http://www.mandysellars.com/ Sellars herself notes that she does not have Proteus syndrome.
- ↑ "Mandy Sellars". www.facebook.com. Archived from the original on 9 April 2013. Retrieved 2 February 2022.
- 1 2 Ashley Neglia (16 November 2009). "Mandy Sellars: What If Your Legs Couldn't Stop Growing?". aolhealth.com. Retrieved 31 October 2010.
- 1 2 3 Monica Cafferky (14 August 2008). "Doctors don't know why my legs are getting bigger". Daily Mirror .
- ↑ Bob Brown (9 September 2008). "Rare Condition Causes Woman to Have Gigantic Legs, Feet". ABC News . Retrieved 31 October 2010.
- ↑ Losing One of My Giant Legs at IMDb
- ↑ "TV Review: Shrinking My 17 Stone Legs • PET". 15 March 2013.
