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Piebaldism, progressive

MedGen UID:
864734
•Concept ID:
C4016297
•
Finding
Synonym: PIEBALDISM, PROGRESSIVE
 
OMIM®: 164920

Recent clinical studies

Etiology

Association of Piebaldism with Café-au-Lait Macules.
Kansal NK, Agarwal S
Skinmed 2017;15(3):223-225. Epub 2017 Jun 1 PMID: 28705289
Biology and genetics of oculocutaneous albinism and vitiligo - common pigmentation disorders in southern Africa.
Manga P, Kerr R, Ramsay M, Kromberg JG
S Afr Med J 2013 Jul 29;103(12 Suppl 1):984-8. doi: 10.7196/samj.7046. PMID: 24300644
Long-term follow-up of leucoderma patients treated with transplants of autologous cultured melanocytes, ultrathin epidermal sheets and basal cell layer suspension.
Olsson MJ, Juhlin L
Br J Dermatol 2002 Nov;147(5):893-904. doi: 10.1046/j.1365-2133.2002.04837.x. PMID: 12410698
Lichen striatus-like leukoderma.
Wu T
J Eur Acad Dermatol Venereol 1998 Mar;10(2):152-4. PMID: 9553913

Diagnosis

Successful rescue of a lethal Griscelli syndrome type 2 presenting with neurological involvement and hemophagocytic lymphohistiocytosis: a case report.
Zhang Q, Zhao YZ, Ma HH, Wang D, Zhang N, Li ZG, Zhang R
BMC Pediatr 2021 May 31;21(1):253. doi: 10.1186/s12887-021-02720-1. PMID: 34058999Free PMC Article
Striking contiguous depigmentation across the lower limbs in piebaldism and its implications for understanding melanocytic migration and development.
Funkhouser CH, Kinsler VA, Frieden IJ
Pediatr Dermatol 2019 Jul;36(4):511-513. Epub 2019 Apr 14 doi: 10.1111/pde.13831. PMID: 30983016
Seizure as the presenting manifestation in Griscelli syndrome type 2.
Panigrahi I, Suthar R, Rawat A, Behera B
Pediatr Neurol 2015 May;52(5):535-8. Epub 2015 Jan 26 doi: 10.1016/j.pediatrneurol.2015.01.010. PMID: 25801174
Piebaldism.
Oiso N, Fukai K, Kawada A, Suzuki T
J Dermatol 2013 May;40(5):330-5. Epub 2012 Jun 1 doi: 10.1111/j.1346-8138.2012.01583.x. PMID: 22670867
Vitiligo.
Le Poole C, Boissy RE
Semin Cutan Med Surg 1997 Mar;16(1):3-14. doi: 10.1016/s1085-5629(97)80030-2. PMID: 9125760

Therapy

The developmental biology of melanocytes and its application to understanding human congenital disorders of pigmentation.
Hornyak TJ
Adv Dermatol 2006;22:201-18. doi: 10.1016/j.yadr.2006.09.002. PMID: 17249303
Vitiligo.
Le Poole C, Boissy RE
Semin Cutan Med Surg 1997 Mar;16(1):3-14. doi: 10.1016/s1085-5629(97)80030-2. PMID: 9125760

Prognosis

Successful rescue of a lethal Griscelli syndrome type 2 presenting with neurological involvement and hemophagocytic lymphohistiocytosis: a case report.
Zhang Q, Zhao YZ, Ma HH, Wang D, Zhang N, Li ZG, Zhang R
BMC Pediatr 2021 May 31;21(1):253. doi: 10.1186/s12887-021-02720-1. PMID: 34058999Free PMC Article
Griscelli syndrome.
Emanuel PO, Sternberg LJ, Phelps RG
Skinmed 2007 May-Jun;6(3):147-9. doi: 10.1111/j.1540-9740.2007.05783.x. PMID: 17483661
A novel KIT mutation results in piebaldism with progressive depigmentation.
Richards KA, Fukai K, Oiso N, Paller AS
J Am Acad Dermatol 2001 Feb;44(2):288-92. doi: 10.1067/mjd.2001.112221. PMID: 11174389
Lichen striatus-like leukoderma.
Wu T
J Eur Acad Dermatol Venereol 1998 Mar;10(2):152-4. PMID: 9553913
Partial albinism with immunodeficiency: a rare syndrome with prominent posterior fossa white matter changes.
Brismar J, Harfi HA
AJNR Am J Neuroradiol 1992 Jan-Feb;13(1):387-93. PMID: 1595481Free PMC Article

Clinical prediction guides

Biallelic KITLG variants lead to a distinct spectrum of hypomelanosis and sensorineural hearing loss.
Vona B, Schwartzbaum DA, Rodriguez AA, Lewis SS, Toosi MB, Radhakrishnan P, Bozan N, Akın R, Doosti M, Manju R, Duman D, Sineni CJ, Nampoothiri S, Karimiani EG, Houlden H, Bademci G, Tekin M, Girisha KM, Maroofian R, Douzgou S
J Eur Acad Dermatol Venereol 2022 Sep;36(9):1606-1611. Epub 2022 May 25 doi: 10.1111/jdv.18207. PMID: 35543077Free PMC Article
Stem cell factor receptor/c-Kit: from basic science to clinical implications.
Lennartsson J, Rönnstrand L
Physiol Rev 2012 Oct;92(4):1619-49. doi: 10.1152/physrev.00046.2011. PMID: 23073628
Mice transgenic for Kit(V620A): recapitulation of piebaldism but not progressive depigmentation seen in humans with this mutation.
Tosaki H, Kunisada T, Motohashi T, Aoki H, Yoshida H, Kitajima Y
J Invest Dermatol 2006 May;126(5):1111-8. doi: 10.1038/sj.jid.5700173. PMID: 16456533
Vitiligo.
Le Poole C, Boissy RE
Semin Cutan Med Surg 1997 Mar;16(1):3-14. doi: 10.1016/s1085-5629(97)80030-2. PMID: 9125760
Contemporary approaches toward understanding the pathogenesis of Hirschsprung disease.
Kapur RP
Pediatr Pathol 1993 Jan-Feb;13(1):83-100. doi: 10.3109/15513819309048196. PMID: 8474955

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