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Dwarfism (UK: /ˈdwɔːfɪzəm/; US: /ˈdwɔːrfɪzəm/) occurs when an individual organism is short in stature resulting from a medical condition caused by slow growth. In humans, dwarfism is sometimes defined as an adult height of less than 4 feet 10 inches (58 in; 147 cm).[1] Dwarfism can be caused by more than 300 distinct medical conditions,[2] such that the symptoms and characteristics of individuals with dwarfism vary greatly. Disproportionate dwarfism is characterized by one or more body parts being relatively large or small in comparison to those of an average-sized adult, with growth variations in specific areas being apparent. In cases of proportionate dwarfism, the body appears normally proportioned, but is unusually small. There is no single treatment for dwarfism. Individual differences, such as bone growth disorders, sometimes can be treated through surgery. Some hormone disorders can be treated through medication and by hormone replacement therapy; this treatment must be done before the child's growth plates fuse. Individual accommodations, such as specialized furniture, are often used by people with dwarfism.[3] Many support groups provide services to aid individuals with dwarfism and the discrimination they may face because of their dwarfism.[4] For people, in addition to the medical aspect of the condition, there are social and sociological aspects as well. For a person with dwarfism, height discrimination can lead to ridicule in childhood and discrimination in adulthood.[5][6] In the United Kingdom, United States, Canada, Australia, and other English-speaking countries, some people with dwarfism prefer to be called "little people".[7][8] Historically, the term "midget" was used to describe "proportionate dwarfs"; however, this term is now regarded as offensive and pejorative by some[9] (see Terminology). Hypotonia, or low muscle tone, is common in dwarfs, but intelligence and lifespan are usually normal. CHARACTERISTICS A typical defining characteristic of dwarfism is an adult height of less than 147 cm (4 ft 10 in). Since those with dwarfism have such a wide range of physical characteristics, variations in individuals are identified by diagnosing and monitoring the underlying disorders. Short stature can be inherited without any coexisting disease. Short stature in the absence of a medical condition is not generally considered dwarfism. For example, a short man and a short woman with average health will tend to produce children who are also short and with average health. While short parents tend to produce short children, persons with dwarfism may produce children of average height, if the cause of their dwarfism is not genetically transmissible or if the individual does not pass on the genetic variation. Dwarfism occurs in animals as well as humans; horses can have achondroplastic symptoms, as shown here next to a person with dwarfism. Disproportionate dwarfism is characterized by one or more body parts being unusually large or small compared to the rest of the body. In achondroplasia one's trunk is usually of average size, one's limbs being proportionately shorter, one's head usually larger, and a prominent forehead.[11] In at least one case achondroplasia resulted in a significantly smaller trunk and head.[citation needed] Facial features are often affected and individual body parts may have problems associated with them. Orthopedic problems can result from multiple conditions such as diastrophic dysplasia and pseudoachondroplasia. Proportionate dwarfism is marked by body parts being proportional but smaller.[12] Height is significantly below average and there may be long periods without any significant growth. Sexual development is often delayed or impaired into adulthood. Unlike disproportionate dwarfism, in some cases intellectual disability may be a part of proportionate dwarfism. Physical maleffects of malformed bones vary according to the specific disease. Many involve joint pain caused by abnormal bone alignment, or from nerve compression.[7] Early degenerative joint disease, exaggerated lordosis or scoliosis, and constriction of spinal cord or nerve roots can cause pain and disability.[13] Reduced thoracic size can restrict lung growth and reduce pulmonary function. Some forms of dwarfism are associated with disordered function of other organs, such as the brain or liver, sometimes severely enough to be more of an impairment than the unusual bone growth.[14][15] Mental effects also vary according to the specific underlying syndrome. In most cases of skeletal dysplasia, such as achondroplasia, mental function is not impaired.[12] However, there are syndromes which can affect the cranial structure and growth of the brain, severely impairing mental capacity. Unless the brain is directly affected by the underlying disorder, there is little to no chance of mental impairment that can be attributed to dwarfism.[16] The psychosocial limitations of society may be more disabling than the physical symptoms, especially in childhood and adolescence, but people with dwarfism vary greatly in the degree to which social participation and emotional health are affected. Social prejudice against extreme shortness may reduce social and marital opportunities.[17][18] See also: heightism Numerous studies have demonstrated reduced employment opportunities. Severe shortness is associated with lower income.[18] Self-esteem may suffer and family relationships may be affected. Extreme shortness (in the low 2–3 foot [60–90 cm] range) can, if not accommodated for, interfere with activities of daily living, like driving or using countertops built for taller people. Other common attributes of dwarfism such as bowed knees and unusually short fingers can lead to back problems, and difficulty in walking and handling objects. Children with dwarfism are particularly vulnerable to teasing and ridicule from classmates. Because dwarfism is relatively uncommon, children may feel isolated from their peers.[14]
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Vitiligo is a long term skin condition characterized by patches of the skin losing their pigment. The patches of skin affected become white and usually have sharp margins. The hair from the skin may also become white. Inside the mouth and nose may also be involved. Typically both sides of the body are affected. Often the patches begin on areas of skin that are exposed to the sun. It is more noticeable in people with dark skin. Vitiligo may result in psychological stress and those affected may be stigmatized. The cause is typically unknown. It is believed to be due to genetic susceptibility that is triggered by an environmental factor such that an autoimmune disease occurs. This results in the destruction of skin pigment cells. Risk factors include a family history of the condition or other autoimmune diseases, such as hyperthyroidism, alopecia areata, and pernicious anemia. Vitiligo is classified into two main types: segmental and non-segmental. Most cases are non-segmental meaning they affect both sides and typically get worse with time. About 10% of cases are segmental meaning they mostly involve one side of the body and do not typically worsen with time.Diagnosis can be confirmed by tissue biopsy. There is no known cure for vitiligo. For those with light skin, sunscreen and makeup is all that is typically recommended. Other treatment options may include steroid creams or phototherapy to darken the light patches. Or efforts to lighten the unaffected skin, such as with hydroquinone, may be tried. A number of surgical options are available for those who do not improve with other measures. A combination of treatments generally has better outcomes. Counselling to provide emotional support may be useful. Globally about 1% of people are affected by vitiligo. Some populations have rates as high as 2–3%. Males and females are equally affected. About half show the disorder before age 20 and most develop it before age 40. Vitiligo has been described since ancient history. CAUSES Although multiple hypotheses have been suggested as potential triggers that cause vitiligo, studies strongly imply that changes in the immune system are responsible for the condition. Vitiligo has been proposed to be a multifactorial disease with genetic susceptibility and environmental factors both thought to play a role. The TYR gene encodes the protein tyrosinase, which is not a component of the immune system, but is an enzyme of the melanocyte that catalyzes melanin biosynthesis, and a major autoantigen in generalized vitiligo. Some state that sunburns can cause the disease but there is not good evidence to support this. Immune Variations in genes that are part of the immune system or part of melanocytes have both been associated with vitiligo. It is also thought to be caused by the immune system attacking and destroying the melanocytes of the skin. A genomewide association study found approximately 36 independent susceptibility loci for generalized vitiligo. Autoimmune associations Vitiligo is sometimes associated with autoimmune and inflammatory diseases such as Hashimoto's thyroiditis, scleroderma, rheumatoid arthritis, type 1 diabetes mellitus, psoriasis, Addison's disease, pernicious anemia, alopecia areata, and systemic lupus erythematosus. Among the inflammatory products of NALP1 are caspase 1 and caspase 7, which activate the inflammatory cytokine interleukin-1β. Interleukin-1β is expressed at high levels in patients with vitiligo.[citation needed] In one of the mutations, the amino acid leucine in the NALP1 protein was replaced by histidine (Leu155->His). The original protein and sequence is highly conserved in evolution, and is found in humans, chimpanzee, rhesus monkey, and the bush baby. Addison's disease (typically an autoimmune destruction of the adrenal glands) may also be seen in individuals with vitiligo.
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