Partial albinism

Common Name(s)

Partial albinism

Piebaldism is a rare autosomal dominant trait characterized by the congenital absence of melanocytes in affected areas of the skin and hair. A white forelock of hair, often triangular in shape, may be the only manifestation, or both the hair and the underlying forehead may be involved. The eyebrows and eyelashes may be affected. Irregularly shaped white patches may be observed on the face, trunk, and extremities, usually in a symmetrical distribution. Typically, islands of hyperpigmentation are present within and at the border of depigmented areas (summary by {26:Thomas et al., 2004}).
 

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Advocacy and Support Organizations

 

Condition Specific Organizations

Following organizations serve the condition "Partial albinism" for support, advocacy or research.

There are currently no organizations listed in Disease InfoSearch that support this condition. Create a listing.

 

 

General Support Organizations

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Scientific Literature

Articles from the PubMed Database

Research articles describe the outcome of a single study. They are the published results of original research.
The terms "Partial albinism" returned 1 free, full-text research articles on human participants. First 3 results:

Partial albinism, immunodeficiency, hypergammaglobulinemia and Dandy-Walker cyst--a Griscelli syndrome variant.
 

Author(s): Chitra Dinakar, S Lewin, Karuna R Kumar, Sujatha R Harshad

Journal: Indian Pediatr. 2003 Oct;40(10):1005-8.

 

A 6-year-old girl presented with recurrent infections, seizures, regression of milestones, silvery hair and organomegaly. A diagnosis of Griscelli syndrome with unusual features of a Dandy Walker cyst and hypergammaglobulinemia, not previously described in literature, was made. The ...

Last Updated: 28 Oct 2003

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Reviews from the PubMed Database

Review articles summarize what is currently known about a disease. They discuss research previously published by others.
The terms "Partial albinism" returned 1 free, full-text review articles on human participants. First 3 results:

Clinical, laboratory and molecular signs of immunodeficiency in patients with partial oculo-cutaneous albinism.
 

Author(s): Laura Dotta, Silvia Parolini, Alberto Prandini, Giovanna Tabellini, Maddalena Antolini, Stephen F Kingsmore, Raffaele Badolato

Journal:

 

Hypopigmentation disorders that are associated with immunodeficiency feature both partial albinism of hair, skin and eyes together with leukocyte defects. These disorders include Chediak Higashi (CHS), Griscelli (GS), Hermansky-Pudlak (HPS) and MAPBP-interacting protein deficiency ...

Last Updated: 16 Jan 2014

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Symptoms, Diagnosis, and Treatment

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Clinical Trial Information This information is provided by ClinicalTrials.gov

Screening Protocol for Genetic Diseases of Mast Cell Homeostasis and Activation
 

Status: Recruiting

Condition Summary: Piebaldism; Idiopathic Anaphylaxis; Allergy; Chronic Urticara; Angioedema

 

Last Updated: 9 Oct 2014

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Natural History of Diseases Associated With Allergic Inflammation: Atopic Dermatitis and Genetic and Congenital Diseases Associated With Atopic Pathways
 

Status: Recruiting

Condition Summary: Atopic Dermatitis; Netheron's Syndrome; Piebaldism; Hyper IgE Syndrome; Ichthyosis; Anaphylaxis; Severe Allergy

 

Last Updated: 21 Jun 2014

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