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A Young Boy with a White Forelock

A Young Boy with a White Forelock

  • A 14-month-old boy is seen for a “cold.” He also has a white forelock. The white forelock was noted sometime between 6 and 9 months of age. His pediatrician was alert…a hearing test was performed and it was normal. There are no relatives who have white forelocks or hearing loss.
  • Physical examination: White forelock. Areas of sharply demarcated hypopigmentation with islands of normal pigment within are noted on torso, legs. Normal neurologic examination. No nystagmus. He is able to hear and his speech development is normal.
  • A closer look: Note the white forelock and a white patch on his lower abdomen. The interpupilary distance was normal. There was no displacement of the inner canthi.
  • And, closer: Underneath the white forelock there is a macular area of skin that is without pigment. There is no scale present.
  • A macular area of depigmentation with islands of normal pigment within.
  • Another macular area of depigmentation with islands of normal pigment within.
  • Putting the pieces together: First, consider: “Is the area of depigmentation congenital or acquired?” This is an important point. Next: The child’s hearing is normal. This is an important feature, too.
  • Pertinent Positive/Negative Findings: No hypertelorism. No displacement of the inner canthi (dystopia canthorum).
  • Differential diagnosis for white forelock: Vitiligo. Fungal infections. Poliosis. Waardenburg syndrome.
  • Differential diagnosis for white forelock: Vitiligo: but this is an acquired disease. Fungal infections: but this is not congenital. Poliosis: white hairs…but in this case there is depigmented skin, too. Waardenburg syndrome: this is a possibility, but hearing loss is part of the syndrome as is dystopia canthorum.
  • Answer: Piebaldism. Has been called partial albinism, but that term is confusing and has been discarded. Congenital leukoderma that favors the trunk, extremities, mid-forehead, and frontal scalp. Normal islands of pigment are found within the areas of leukoderma. Pathogenesis: mutation of a protein product (proto-oncogene KIT and SNAI2) on chromosome 4 that affects tyrosine turnover. Autosomal dominant, but can be a spontaneous mutation.
  • Piebaldism: Histology: electron and light microscopy show a complete absence of melanin and melanocytes in the epidermis and hair bulbs.
  • Another area of consideration: The areas of absent pigmentation are subject to more severe sunburn. Therefore, as with all patients, we should discuss sunscreen usage.
  • If you were set on Waardengurg syndrome: Classic Waardenburg syndrome presents with the following (in decreasing order of appearance): dystopia canthorum; broad nasal root; synophrys (confluent eyebrows); heterochromia irides; congenital deafness; leukoderma.
  • What about treatment? Usually none, but...Patients who are self-conscious about appearance may benefit from: Dermabrasion of areas of depigmentation followed by application of melanocyte-enriched cell suspensions. Melanocyte transplant by shaving off epidermis and replacing it with shaved-off skin from another site. Suction epidermal grafting or full-thickness punch grafts; a combination of these methods may be required and can be augmented with UV light therapy. Less invasive methods for improving appearance can be achieved with cosmetic camouflage techniques.
  • Genetics Home Reference, National Library of Medicine, National Institutes of Health. Piebaldism. Accessed August 12, 2015 and available at: CLICK HERE. Medscape.com. Piebaldism. Accessed August 12, 2015 and available at: CLICK HERE. Rocha de Hollanda T, Estefan J, Boleira M, Ribeiro M. Human piebaldism. J Am Acad Derm. 2013;68(Suppl 1):AB98. CLICK HERE.

A young boy is brought in by his mother because he has a cold. He also happens to have a shock of stark white in the center of his otherwise black head of hair. This gets you thinking--but not about the cold. Our slides give you a closer look at the case; what's your diagnosis?

Comments

Waardenburg Shah Syndrome

Oliver @

waardenderg syndrome

kunjamma @

The 'White lock', part of Waardenburg syndrome as already pointed, is an inherited trait, transmitted in a dominant way, that is linked to some thyroid diseases and to increased aggression

Jose @

Von Waardenburg Syndrome

Joseph @

Waardebergs

Curtis @

Waardeberg syndrome

Helen @

o

Robert @

o

Robert @

Piebaldism

Susan @

Wardenberg Synd

ira @

I bet if you measured, he would have telecanthus. But he does not have Waardenburg syndrome, rather I think this is Piebaldism

David @

Excellent point, David! We did measure for telecanthus and hypertelorism (we got our geneticist involved) because he had a seeming broad nasal root/bridge. She felt the measurement were "equivocal" and she agreed with my diagnosis.

Jonathan @

piebaldism

sue @

For those who added Piebaldism.... Accolades to you! You noticed that we asked "are any of these correct?" The fun in doing these cases should be the mental gymnastics of good, old-fashioned differential diagnoses PLUS adding a new diagnoses to your differentials. Learning should be informative and fun. When we stop learning, it is time to "hang 'em up."
Jon Schneider
PL-41 and author of this case
P.S. I have plenty more like this to share with you....

Jonathan @

N/A ?

Clara @

PIEBALDISM

Anonymous @

PIEBALDISM

Anonymous @

Piebaldism

Barbara @

Waardenburg

Mia @

Piebaldism

Satish @

congrats... the correct answer!

Jonathan @

waardenberg

Sarah @

Waardenberg syndrome

Lakshmi @

Poliosis OR vitelligo
Maybe young for vitilligo, but is more common, but poliosis would fit also.

Trevor @

Haying Mauritius syndrome

craig @

waardenburg syndrome

NELSON @

Hhgg

JEFFREY @

Vkh? Harada syndrome.

Rupan @

From the author... just trying to assist all of you. You are given a choice of answers, BUT the question afterwards is "are any of those correct?" I offered you some information that would make you think that perhaps Waardenburg is not the correct answer and there is something else you have not yet considered. Besides this young child, I have seen at least a dozen patients with this condition over my 41 year career ( I am a PGY-41 this year... an adolescent physician, but 13 years in general peds before my fellowship). Someone suggested albinism. That is not correct but you are getting close. I chose this case because it is commonly misdiagnosed and a good one to remember. Once you see it, it will always be in your differential diagnosis for white forelock and skin depigmentation. Your colleagues will think you are amazing when you make the correct diagnosis, too.
Sincerely (your colleague)
Jon Schneider

Jonathan @

wardenberg

David @

Allergic rhinitis from hair color

Jong @

G

Anonymous @

Wardenberg

Pat @

Warden burg synd

Hasnain @

waardenburg syndrome

Eliane @

Wardenburg synd

ronda @

Wardenberg

Charles @

Wardenberg syndrome

Surendra @

Wardenberg syndrome

Surendra @

Wardenberg syndrome

Sandra @

Wardenberg Synseome

ROBERT @

Wardenberg Synseome

ROBERT @

??

Susan @

??

Susan @

Got me.

elizabeth @

Waardenburg Syndrome

Michelle @

Don't know

Barry @

Had a friend with this as well - no health issues.

julie @

He's a member of the X-men. Just sit back and try and observe his super power.

julie @

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