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  • Hidradenitis suppurativa


    Hidradenitis suppurativa (HS), also known as acne inversa, is a long term skin disease characterized by the occurrence of inflamed and swollen lumps. These are typically painful and break open releasing fluid or pus. The areas most commonly affected are the underarms, under the breasts, and groin. Scar tissue remains after healing. Self-consciousness or depression may result. The exact cause is usually unclear but believed to involve a combination of genetic and environmental factors. About a third of people with the disease have an affected family member. Other risk factors include obesity and smoking. The condition is not infectious, related to hygiene, or to the use of deodorant. The underlying mechanism is believed to involve either a dysfunction of apocrine sweat glands or hair follicles. Diagnosis is based on the symptoms. There is no known cure. Warm baths may be tried in those with mild disease. Cutting open the lesions to allow them to drain does not result in significant benefit. While antibiotics are commonly used, evidence for their use is poor. Immunosuppressive medication may also be tried. In those with more severe disease laser therapy or surgery to remove the affected skin may be carried out. Rarely a skin lesion may develop into skin cancer. It is estimated to affect between 1% and 4% of people. Females have the condition about three times more often than males. Onset is typically in young adulthood and may become less common after 50 years old. It was first described some time between 1833 and 1839 by Alfred Velpeau.

  • Tricho–dento–osseous syndrome


    Tricho-dento-osseous syndrome (TDO) is a rare, systemic, autosomal dominant genetic disorder that causes defects in hair, teeth, and bones respectively. This disease is present at birth. TDO has been shown to occur in areas of close geographic proximity and within families; most recent documented cases are in Virginia, Tennessee, and North Carolina. The cause of this disease is a mutation in the DLX3 (distal-less 3) gene, which controls hair follicle differentiation and induction of bone formation. One-hundred percent of patients with TDO suffer from two co-existing conditions called enamel hypoplasia and taurodontism in which the abnormal growth patterns of the teeth result in severe external and internal defects. The hair defects are characterized as being rough, course, with profuse shedding. Hair is curly and kinky at infancy but later straightens. Dental defects are characterized by dark-yellow/brownish colored teeth, thin and/or possibly pitted enamel, that is malformed. The teeth can also look normal in color, but also have a physical impression of extreme fragility and thinness in appearance.

  • Frontonasal dysplasia


    Frontonasal dysplasia (FND) is a congenital malformation of the midface. For the diagnosis of FND, a patient should present at least two of the following characteristics: hypertelorism (an increased distance between the eyes), a wide nasal root, vertical midline cleft of the nose and/or upper lip, cleft of the wings of the nose, malformed nasal tip, encephalocele (an opening of the skull with protrusion of the brain) or V-shaped hair pattern on the forehead. The cause of FND remains unknown. FND seems to be sporadic (random) and multiple environmental factors are suggested as possible causes for the syndrome. However, in some families multiple cases of FND were reported, which suggests a genetic cause of FND.

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