Coming in a variety of sizes and appearances, they may be irregular in shape and flat, or raised and lumpy in appearance and feel. Such naevi can also manifest themselves as beauty marks, which most commonly appear on the face, neck or arms. Café au lait spot
Café au lait spot macules may occur anywhere on the body. They are most commonly oval in shape and light brown, or milk coffee, in color. These birthmarks may be present at birth, or appear in early childhood, and do not fade much with age. One or two on an individual is common; however, four or more may be an indicator of neurofibromatosis. In the event of weight gain, the birthmark can stretch with the skin and become larger. Mongolian spot
A Mongolian blue spot (dermal melanocytosis) is a benign flat congenital birthmark with wavy borders and irregular shape, most common among East Asians and Turkic people (excluding Turks of Asia Minor), and named after Mongolians. It is also extremely prevalent among East Africans and Native Americans. It normally disappears three to five years after birth and almost always by puberty. The most common color is blue, although they can be blue-gray, blue-black or even deep brown. The Mongolian spot is a congenital developmental condition exclusively involving the skin. The blue colour is caused by melanocytes, melanin-containing cells, that are deep under the skin. Usually, as multiple spots or one large patch, it covers one or more of the lumbosacral area (lower back), the buttocks, sides, and shoulders.
Several SDS patient groups are advocating for better therapies for SDS, and one organization is focused on driving the therapy development efforts. The challenge is whether the SDS community can come together to support the required research, and whether the organizations can successfully execute a strategy that coordinates the efforts for new therapy development. Epidemiology
It is thought to have an estimated incidence of 1 in 75,000 people. History
The disease was first described as a coherent clinical entity in May 1964 by Bodian, Sheldon, and Lightwood. It was subsequently described by Shwachman, Diamond, Oski, and Khaw in November of the same year. In 2001, linkage analysis in SDS families indicated that affected gene mapped to a large region of human chromosome seven. In 2002, this interval was refined to a region on the long arm of the chromosome next to the centromere.In 2003, a team of researchers led by Johanna Rommens at the Hospital of Sick Children (SickKids) in Toronto, Canada, discovered mutations in the SBDS gene (Shwachman–Bodian–Diamond syndrome) were associated with disease. Eponym
Shwachman–Diamond syndrome, less commonly known as Shwachman–Bodian–Diamond syndrome, is named for Harry Shwachman (1910 – September 12, 1986), an American physician, Martin Bodian (1912 – May 12, 1994), a British ophthalmologist who worked in New York City, and Louis Klein Diamond (May 11, 1902 – June 14, 1999), an American pediatrician. References
Further reading
Foerster (2014). "Ch 37. Inherited Aplastic Anemia Syndromes". In John P. Greer; Daniel A. Arber; Bertil Glader; Alan F. List; Robert T. Means Jr.; Frixos Paraskevas; George M. Rodgers; John Foerster (eds.).