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Results 1 - 10 of 35 for Abnormality of skin pigmentation
  1. Mandibuloacral dysplasia 
    ... is a condition that causes a variety of abnormalities involving bone development, skin coloring (pigmentation), and fat distribution. People with this condition may ...
    https://medlineplus.gov/genetics/condition/mandibuloacral-dysplasia - Genetics
  2. Coats plus syndrome 
    ... hair; malformations of the fingernails and toenails; and abnormalities of skin coloring (pigmentation), such as light brown patches called café-au-lait spots.Coats plus syndrome and a disorder called leukoencephalopathy with ... However, researchers recently found that Coats plus syndrome ...
    https://medlineplus.gov/genetics/condition/coats-plus-syndrome - Genetics
  3. KRT5 gene 
    ... to the development of different types of skin abnormalities. Additionally, a ... skin pigmentation. This disruption of melanosome transport is thought to ...
    https://medlineplus.gov/genetics/gene/krt5 - Genetics
  4. Dowling-Degos disease 
    ... they are needed for the development of normal skin pigmentation. This disruption of melanosome transport is thought to cause the pigmentation abnormalities seen in individuals with Dowling-Degos disease.Mutations ...
    https://medlineplus.gov/genetics/condition/dowling-degos-disease - Genetics
  5. Mowat-Wilson syndrome 
    ... syndrome include short stature, seizures, heart defects, and abnormalities of the urinary tract and genitalia. Less commonly, this condition also affects the eyes, teeth, hands, and skin coloring (pigmentation). Although many different medical issues have been associated ...
    https://medlineplus.gov/genetics/condition/mowat-wilson-syndrome - Genetics
  6. Microcephalic osteodysplastic primordial dwarfism type II 
    ... may develop areas of abnormally light or dark skin coloring (pigmentation).Many individuals with MOPDII have blood vessel abnormalities. For example, some affected individuals develop a bulge ...
    https://medlineplus.gov/...teodysplastic-primordial-dwarfism-type-ii - Genetics
  7. Encephalocraniocutaneous lipomatosis 
    ... scalp (dermal hypoplasia or aplasia), and changes in skin coloring (pigmentation) are also possible.The most common eye abnormality in ECCL is a noncancerous growth called a ...
    https://medlineplus.gov/.../encephalocraniocutaneous-lipomatosis - Genetics
  8. Hemochromatosis (American Liver Foundation)  
    Hemochromatosis/Start Here ... Hemochromatosis ... American Liver Foundation ... Hemochromatosis is an inherited condition in which the body absorbs and stores too much ...
    https://liverfoundation.org/.../rare-disease/hemochromatosis - External Health Links
  9. PAX3 gene 
    ... do not develop in certain areas of the skin, hair, eyes, and inner ear, ... and muscles, producing abnormalities of the arms and hands in people with ...
    https://medlineplus.gov/genetics/gene/pax3 - Genetics
  10. Stevens-Johnson syndrome/toxic epidermal necrolysis 
    ... SJS/TEN can include changes in skin coloring (pigmentation), dryness of the ... abnormalities. A small percentage of affected individuals develop chronic ...
    https://medlineplus.gov/...hnson-syndrome-toxic-epidermal-necrolysis - Genetics
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