What is Piebaldism?

Piebaldism as it is defined by medical experts, an autosomal dominant absence of melanocyte development categorized by congenital white forelock and multiple symmetrical hypo pigmented or depigmented. The word “Piebaldism” derived from the word “pie” meaning in the magpie that refers to a black bird and white plumage while the “bald” is attributed to the bald eagle, the United States’ national bird which has white feathered head.

Piebaldism Images


Piebaldism can be expounded by the following Pathophysiological process such as;

Mutation of the c-KIT proto-oncogene

This specific gene is the reason why Piebaldism occurs; when this specific gene is hampered or mutated it resulted to the absence of melanocytes that responsible for producing melanin (pigment primarily responsible for skin and hair pigment). According to the study conducted by Richard et al, Fourteen points mutation, nine deletions, two nucleotide splice mutations and three insertions of this KIT gene are believed to be the cause of mutations.

The c-KIT that is specifically located on chromosome 4q12 is encrypts the cell-surface receptor trasmembrane tyrokinase which responsible for the embryonic growth, when the c-KIT is mutated during the differentiation and migration of the melanoblast from the neural crest during the embryonic life, it causes Piebaldism with a range of phenotype.

According to the study of Ezoe et al, they studied the novel mutation and deletion of the KIT gene in 26 unrelated patients with Piebaldism hypopigmentation, 17 were typical patient, 5 had atypical clinical features or family histories and 4 had other disorders.

Based from the pathologic mutation result, the research team found out that pathologic KIT gene were found in 10 (59%) of the typical patients and in 2 (40%) of the atypical patients. And among the patients without c-KIT mutations had no abnormalities of the steel factor gene or the embryonic growth.


Piebaldism is characterize by the following features;

  • Lack of hair growing just above the forehead
  • Depigmented patches of skin appearing symmetrically on sides of the body
  • White forelock and depigmented macule on the mid-forehead
  • Whitening of Eyebrow and Eyelash hair
  • Appearance of white patches particularly in the chin, trunk and extremities
  • 90% of affected individuals have white section of hair near the front hairline
  • Islands of hyperpigmentation present within the border of depigmented areas

Piebaldism Image


This autosomal dominant disorder known also as the Piebaldism often associated to be partial albinism or vitiligo. However, the three syndromes are completely different from each other. In albinism the cells lack the ability to produce pigment altogether while vitiligo the melanocytes are destroyed.

In Piebaldism it involves distinct patches of skin and hair that contain no pigment. Furthermore, the condition also associated that patients who has this disorder are being diagnose with deafness. There were also several cases who have been reported a varying degrees of deafness in association of people with a white forelock and patches of leukoderma.

In order to diagnose the Piebaldism accurately some health experts perform skin biopsies, this procedure demonstrates the patient is completely lack of melanin pigment and melanocytes. The melanocyte cells are the cells responsible for producing the pigment for skin and hair, without it an area of skin will be depigmented.


The condition of Piebaldism is a benign disorder, meaning it is not a serious threat to individual who has it. Nonetheless, the patients are still advise to take seek medical practitioner and ask for some possible treatment or procedure in order to prevent complications such as cutaneous malignancy.

Patients who are conscious about their appearance may avail the following treatments;


  • a procedure performed by dermatologic surgeons in which they use a wire brush or diamond wheel with rough edges to remove the upper layers of the skin. The brush whirls speedily, taking off and leveling the top layer of the skin. The scraping of the top layer of the dermis causes it to get wound and bleed, as the wounded layer of the skin heals, new cell arises to replace the damage cell and become new skin.

Melanocyte Transplant

  • it is a surgical technique that involves shaving off the top layer of skin mainly the (melanocytes and keratinocytes) under the local anesthesia and then culture in the laboratory overnight. Once the cultured cell grown, the cells are then applied on the shave-off skin. The success for this rate of treatment is about 95% obtained from the treated patient.

Suction epidermal grafting

  • it is known also as “skin grafting”, the procedure involves transplantation of the skin. The transplanted skin is now called a “skin graft”, it is often performed after a serious injury especially if the body’s skin is severely damage. There are 3 classification of skin grafting and sources of the skin vary also.


  • Its thickness depends on the donor site and patient needs. It can be processed through a skin mesher which makes apertures onto the graft, permitting it to expand up to 9 times its size. Split-thickness grafts are often used as they can cover large areas and the rate of auto rejection is low


  • The donor site is either sutured closed directly or covered by a split-thickness skin graft.

Composite graft

  • It is a small graft containing skin and underlying cartilage or other tissue. The Donor sites include such as ear skin and cartilage to restructure nasal alar rim defects.
  • The piebald patient should also be aware of risk when it exposing to sun. As it discussed earlier, patients with Piebaldism has higher risk of developing other types of skin disorder like skin cancer, cutaneous malignancy and etc. Each patient should use some sunscreens, or sun protection like wide-brimmed hat, long-sleeves shirts, long pants to avoid sun exposure during the peak of hours where UV is highly intense.


  1. http://www.dermnetnz.org/topics/piebaldism/
  2. http://emedicine.medscape.com/article/1113248-overview
  3. https://ghr.nlm.nih.gov/condition/piebaldism
  4. https://en.wikipedia.org/wiki/Melanocyte
  5. https://www.ncbi.nlm.nih.gov/pubmed/7525736/
  6. http://besttreatmenthq.com/piebaldism-treatment-and-symptoms/
  7. http://www.mdedge.com/ccjm/dsm/473/dermatology/piebaldism
  8. http://www.keratin.com/as/as012.shtml
  9. https://en.wikipedia.org/wiki/Piebaldism
  10. https://www.ncbi.nlm.nih.gov/gtr/conditions/C0080024/
  11. http://emedicine.medscape.com/article/1113248-overview#a3
  12. http://www.webmd.com/beauty/dermabrasion-21085
  13. https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3481873/#ref3
  14. https://www.ncbi.nlm.nih.gov/pubmed/7529964
  15. https://www.aad.org/media/news-releases/new-surgical-techniques-hold-promise-for-treating-vitiligo

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