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Piebald trait-neurologic defects syndrome

MedGen UID:: 358177
•Concept ID:: C1868311
•: Disease or Syndrome

Synonyms:	Piebald trait neurologic defects; PIEBALD TRAIT WITH NEUROLOGIC DEFECTS; Telfer Sugar Jaeger syndrome; White forelock and leukoderma with neurological impairment
SNOMED CT:	Piebald trait with neurologic defects syndrome (773984007); Telfer Sugar Jaeger syndrome (773984007)

Monarch Initiative:	MONDO:0008245
OMIM®:	172850
Orphanet:	ORPHA2885

Definition

A rare genetic pigmentation anomaly of the skin syndrome with characteristics of ventral as well as dorsal leukoderma of the trunk and a congenital white forelock in association with cerebellar ataxia, impaired motor coordination, intellectual disability of variable severity and progressive, mild to profound, unilateral or bilateral sensorineural hearing loss. There have been no further descriptions in the literature since 1971. [from SNOMEDCT_US]

Clinical features

From HPO

Hearing impairment

MedGen UID:: 235586
•Concept ID:: C1384666
•: Disease or Syndrome

A decreased magnitude of the sensory perception of sound.

See: Feature record | Search on this feature

Cerebellar ataxia

MedGen UID:: 849
•Concept ID:: C0007758
•: Disease or Syndrome

Cerebellar ataxia refers to ataxia due to dysfunction of the cerebellum. This causes a variety of elementary neurological deficits including asynergy (lack of coordination between muscles, limbs and joints), dysmetria (lack of ability to judge distances that can lead to under- or overshoot in grasping movements), and dysdiadochokinesia (inability to perform rapid movements requiring antagonizing muscle groups to be switched on and off repeatedly).

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Intellectual disability

MedGen UID:: 811461
•Concept ID:: C3714756
•: Mental or Behavioral Dysfunction

Intellectual disability, previously referred to as mental retardation, is characterized by subnormal intellectual functioning that occurs during the developmental period. It is defined by an IQ score below 70.

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White forelock

MedGen UID:: 91023
•Concept ID:: C0344312
•: Finding

A triangular depigmented region of white hairs located in the anterior midline of the scalp.

See: Feature record | Search on this feature

Absent pigmentation of the ventral chest

MedGen UID:: 870403
•Concept ID:: C4024848
•: Disease or Syndrome

Lack of skin pigmentation (coloring) of the anterior chest.

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Abnormality of the integument
- Absent pigmentation of the ventral chest
- White forelock
Abnormality of the nervous system
- Cerebellar ataxia
- Intellectual disability
Ear malformation
- Hearing impairment

Term Hierarchy

GTR
MeSH
Orphanet

CClinical test, RResearch test, OOMIM, GGeneReviews, VClinVar

CROGVPiebald trait-neurologic defects syndrome

Phenotypic abnormality
- Abnormality of the integument
  - Abnormality of the skin
    - Abnormal skin morphology
      - Abnormality of skin pigmentation
        Hypopigmentation of the skin
        Piebald trait-neurologic defects syndrome

Follow this link to review classifications for Piebald trait-neurologic defects syndrome in Orphanet.

Recent clinical studies

Etiology

PARTIAL OCULOCUTANEOUS ALBINISM AND IMMUNODEFICIENCY SYNDROMES: TEN YEARS EXPERIENCE FROM A SINGLE CENTER IN TURKEY.

Patiroglu T, Akar HH, Unal E, Chiang SC, Schlums H, Tesi B, Ozkars MY, Karakukcu M
Genet Couns 2016;27(1):67-76. PMID: 27192893

Alopecia in genetic diseases.

Calvieri S, Rossi A
G Ital Dermatol Venereol 2014 Feb;149(1):1-13. PMID: 24566562

Familial hemophagocytic lymphohistiocytosis: a model for understanding the human machinery of cellular cytotoxicity.

Sieni E, Cetica V, Mastrodicasa E, Pende D, Moretta L, Griffiths G, Aricò M
Cell Mol Life Sci 2012 Jan;69(1):29-40. Epub 2011 Oct 12 doi: 10.1007/s00018-011-0835-y. PMID: 21990010 Free PMC Article

SOX10 mutations in patients with Waardenburg-Hirschsprung disease.

Pingault V, Bondurand N, Kuhlbrodt K, Goerich DE, Préhu MO, Puliti A, Herbarth B, Hermans-Borgmeyer I, Legius E, Matthijs G, Amiel J, Lyonnet S, Ceccherini I, Romeo G, Smith JC, Read AP, Wegner M, Goossens M
Nat Genet 1998 Feb;18(2):171-3. doi: 10.1038/ng0298-171. PMID: 9462749

Hirschsprung's disease in Oman.

Rajab A, Freeman NV, Patton MA
J Pediatr Surg 1997 May;32(5):724-7. doi: 10.1016/s0022-3468(97)90015-4. PMID: 9165461

See all (8)

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

Macrophage activation syndrome associated with griscelli syndrome type 2: case report and review of literature.

Sefsafi Z, Hasbaoui BE, Kili A, Agadr A, Khattab M
Pan Afr Med J 2018;29:75. Epub 2018 Jan 25 doi: 10.11604/pamj.2018.29.75.12353. PMID: 29875956 Free PMC Article

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

A case of Griscelli syndrome.

Kerketta JA, Lodh M, Mandal K
Dermatol Online J 2014 Nov 15;20(11) PMID: 25419745

Familial hemophagocytic lymphohistiocytosis: a model for understanding the human machinery of cellular cytotoxicity.

Sieni E, Cetica V, Mastrodicasa E, Pende D, Moretta L, Griffiths G, Aricò M
Cell Mol Life Sci 2012 Jan;69(1):29-40. Epub 2011 Oct 12 doi: 10.1007/s00018-011-0835-y. PMID: 21990010 Free PMC Article

See all (19)

Therapy

Macrophage activation syndrome associated with griscelli syndrome type 2: case report and review of literature.

Sefsafi Z, Hasbaoui BE, Kili A, Agadr A, Khattab M
Pan Afr Med J 2018;29:75. Epub 2018 Jan 25 doi: 10.11604/pamj.2018.29.75.12353. PMID: 29875956 Free PMC Article

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

Griscelli syndrome: characterization of a new mutation and rescue of T-cytotoxic activity by retroviral transfer of RAB27A gene.

Bizario JC, Feldmann J, Castro FA, Ménasché G, Jacob CM, Cristofani L, Casella EB, Voltarelli JC, de Saint-Basile G, Espreafico EM
J Clin Immunol 2004 Jul;24(4):397-410. doi: 10.1023/B:JOCI.0000029119.83799.cb. PMID: 15163896

See all (3)

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.

Macrophage activation syndrome associated with griscelli syndrome type 2: case report and review of literature.

Sefsafi Z, Hasbaoui BE, Kili A, Agadr A, Khattab M
Pan Afr Med J 2018;29:75. Epub 2018 Jan 25 doi: 10.11604/pamj.2018.29.75.12353. PMID: 29875956 Free PMC Article

A case of Griscelli syndrome.

Kerketta JA, Lodh M, Mandal K
Dermatol Online J 2014 Nov 15;20(11) PMID: 25419745

Hirschsprung's disease in Oman.

Rajab A, Freeman NV, Patton MA
J Pediatr Surg 1997 May;32(5):724-7. doi: 10.1016/s0022-3468(97)90015-4. PMID: 9165461

See all (10)