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Results 1 - 10 of 28 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. 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
  7. 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
  8. 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
  9. 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
  10. Neurofibromatosis type 1 
    ... 1 is a condition characterized by changes in skin coloring (pigmentation) and the growth of tumors along nerves in ... stature, an unusually large head (macrocephaly), and skeletal abnormalities such as an abnormal curvature of the spine ( ...
    https://medlineplus.gov/genetics/condition/neurofibromatosis-type-1 - Genetics
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