Piebaldism with sensorineural deafness

MedGen UID:: 864731
•Concept ID:: C4016294
•: Finding

Synonym:	PIEBALDISM WITH SENSORINEURAL DEAFNESS

OMIM®:	164920

Recent clinical studies

Etiology

Congenital Sensorineural Hearing Loss and Inborn Pigmentary Disorders: First Report of Multilocus Syndrome in Piebaldism.

Gironi LC, Colombo E, Brusco A, Grosso E, Naretto VG, Guala A, Di Gregorio E, Zonta A, Zottarelli F, Pasini B, Savoia P
Medicina (Kaunas) 2019 Jul 7;55(7) doi: 10.3390/medicina55070345. PMID: 31284637 Free PMC Article

Congenital Hypopigmentary Disorders with Multiorgan Impairment: A Case Report and an Overview on Gray Hair Syndromes.

Gironi LC, Zottarelli F, Savoldi G, Notarangelo LD, Basso ME, Ferrero I, Timeus F, Fagioli F, Maiuri L, Colombo E, Savoia P
Medicina (Kaunas) 2019 Mar 25;55(3) doi: 10.3390/medicina55030078. PMID: 30934652 Free PMC Article

Usefulness of the skin biopsy as a tool in the diagnosis of silvery hair syndrome.

Ridaura-Sanz C, Durán-McKinster C, Ruiz-Maldonado R
Pediatr Dermatol 2018 Nov;35(6):780-783. Epub 2018 Oct 18 doi: 10.1111/pde.13624. PMID: 30338556

Hematopoietic stem cell transplantation for children with primary immunodeficiency diseases: single center experience in Jordan.

Amayiri N, Al-Zaben A, Ghatasheh L, Frangoul H, Hussein AA
Pediatr Transplant 2013 Jun;17(4):394-402. doi: 10.1111/petr.12081. PMID: 23692601

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Diagnosis

Diagnostic and therapeutic caveats in Griscelli syndrome.

Castaño-Jaramillo LM, Lugo-Reyes SO, Cruz Muñoz ME, Scheffler-Mendoza SC, Duran McKinster C, Yamazaki-Nakashimada MA, Espinosa-Padilla SE, Saez-de-Ocariz Gutierrez MDM
Scand J Immunol 2021 Jun;93(6):e13034. Epub 2021 Mar 20 doi: 10.1111/sji.13034. PMID: 33660295

Congenital Sensorineural Hearing Loss and Inborn Pigmentary Disorders: First Report of Multilocus Syndrome in Piebaldism.

Usefulness of the skin biopsy as a tool in the diagnosis of silvery hair syndrome.

Ridaura-Sanz C, Durán-McKinster C, Ruiz-Maldonado R
Pediatr Dermatol 2018 Nov;35(6):780-783. Epub 2018 Oct 18 doi: 10.1111/pde.13624. PMID: 30338556

Griscelli syndrome: A rare disorder.

Sahu C, Netam SS, Bhutada BR, Jaiswal SJ
Neurol India 2017 Jul-Aug;65(4):869-870. doi: 10.4103/neuroindia.NI_762_16. PMID: 28681765

Molecular heterogeneity in two families with auditory pigmentary syndromes: the role of neuroimaging and genetic analysis in deafness.

Shears D, Conlon H, Murakami T, Fukai K, Alles R, Trembath R, Bitner-Glindzicz M
Clin Genet 2004 May;65(5):384-9. doi: 10.1111/j.0009-9163.2004.00235.x. PMID: 15099345

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Therapy

Successful treatment of severe myasthenia gravis developed after allogeneic hematopoietic stem cell transplantation with plasma exchange and rituximab.

Unal S, Sag E, Kuskonmaz B, Kesici S, Bayrakci B, Ayvaz DC, Tezcan I, Yalnızoglu D, Uckan D
Pediatr Blood Cancer 2014 May;61(5):928-30. Epub 2013 Oct 18 doi: 10.1002/pbc.24799. PMID: 24307660

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Prognosis

MYO5A Frameshift Variant in a Miniature Dachshund with Coat Color Dilution and Neurological Defects Resembling Human Griscelli Syndrome Type 1.

Christen M, de le Roi M, Jagannathan V, Becker K, Leeb T
Genes (Basel) 2021 Sep 23;12(10) doi: 10.3390/genes12101479. PMID: 34680875 Free PMC Article

Diagnostic and therapeutic caveats in Griscelli syndrome.

Griscelli syndrome: A rare disorder.

Sahu C, Netam SS, Bhutada BR, Jaiswal SJ
Neurol India 2017 Jul-Aug;65(4):869-870. doi: 10.4103/neuroindia.NI_762_16. PMID: 28681765

Teaching neuroImages: Griscelli syndrome and CNS lymphohistiocytosis.

Saini AG, Nagaraju S, Sahu JK, Rawat A, Vyas S, Singhi P
Neurology 2014 Apr 8;82(14):e122-3. doi: 10.1212/WNL.0000000000000288. PMID: 24711539

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

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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

MYO5A Frameshift Variant in a Miniature Dachshund with Coat Color Dilution and Neurological Defects Resembling Human Griscelli Syndrome Type 1.

Christen M, de le Roi M, Jagannathan V, Becker K, Leeb T
Genes (Basel) 2021 Sep 23;12(10) doi: 10.3390/genes12101479. PMID: 34680875 Free PMC Article

Usefulness of the skin biopsy as a tool in the diagnosis of silvery hair syndrome.

Ridaura-Sanz C, Durán-McKinster C, Ruiz-Maldonado R
Pediatr Dermatol 2018 Nov;35(6):780-783. Epub 2018 Oct 18 doi: 10.1111/pde.13624. PMID: 30338556

Piebaldism with deafness: molecular evidence for an expanded syndrome.

Spritz RA, Beighton P
Am J Med Genet 1998 Jan 6;75(1):101-3. doi: 10.1002/(sici)1096-8628(19980106)75:1<101::aid-ajmg20>3.0.co;2-p. PMID: 9450866

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