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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

See all (4)

Diagnosis

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

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

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

Lichen striatus-like leukoderma.

Wu T
J Eur Acad Dermatol Venereol 1998 Mar;10(2):152-4. PMID: 9553913

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

See all (11)

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

See all (2)

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: 34058999 Free PMC Article

Griscelli syndrome types 1 and 3: analysis of four new cases and long-term evaluation of previously diagnosed patients.

Cağdaş D, Ozgür TT, Asal GT, Tezcan I, Metin A, Lambert N, de Saint Basile G, Sanal O
Eur J Pediatr 2012 Oct;171(10):1527-31. Epub 2012 Jun 19 doi: 10.1007/s00431-012-1765-x. PMID: 22711375

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

See all (8)

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: 35543077 Free 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

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

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

See all (6)