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Chapter: Clinical Dermatology: Regional dermatology

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Rare genetic causes of hypotrichosis

More than 300 genetic conditions exist that have hair abnormalities as one component.

Rare genetic causes of hypotrichosis

More than 300 genetic conditions exist that have hair abnormalities as one component. The hypohidroticectodermal dysplasias are a group of rare inheriteddisorders characterized by sparse hair, scanty sweat glands, and poor development of the nails and teeth. (Figs 13.13 and 13.14). Heat stroke may follow inad-equate sweat production. One type is inherited as an X-linked recessive. The responsible gene for this type (on chromosome Xq12) has recently been shown to encode for a protein (ectodysplasin) involved in the regulation of ectodermal appendage formation. The genes responsible for the dominant/recessive types encode for the ectodysplasin receptor.


In other inherited disorders the hair may be beaded and brittle (monilethrix); flattened and twisted (pilitorti); kinky (Menkes’ syndrome caused by muta-tions in a gene encoding for a copper transport-ing membrane protein); like bamboo (Netherton’ssyndrome, caused by a gene on chromosome 5q32encoding a serine protease inhibitor); partly broken in many places (trichorrhexis nodosa); ‘woolly’ or ‘uncombable’.



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