Piebaldism: Causes & Reasons

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Possible Causes for Piebaldism

Vitiligo

In vitiligo and piebaldism the lack of melanin in the epidermis is due to the fact that melanocytes are missing. [ncbi.nlm.nih.gov]

Schwartz, Piebaldism: an update, International Journal of Dermatology, 43, 10, (716-719), (2004). [doi.org]

Hypo-/ leucism Loss of melanocytes Vitiligo Quadrichrome vitiligo Vitiligo ponctué Syndromic Alezzandrini syndrome Vogt–Koyanagi–Harada syndrome Melanocyte development Piebaldism [en.wikipedia.org]

Uveomeningoencephalitic Syndrome

The cutaneous symptoms may lead us to consider diagnostic possibilities such as Alezzandrini's syndrome, alopecia areata, vitiligo and piebaldism 10. [scielo.br]

Besides that, the cutaneous manifestations should exclude diagnosis such as Alezzandrini’s syndrome, alopecia areata, vitiligo and piebaldism. [ojrd.biomedcentral.com]

Piebaldism

Piebaldism is found in nearly every species of mammal. [en.wikipedia.org]

Novel mutations and deletions of the KIT (steel factor receptor) gene in human piebaldism. [AtlasGeneticsOncology.org]

Genetic analyses reveal a consistent genotype-phenotype relationship in piebaldism. [ncbi.nlm.nih.gov]

Pfeiffer-Palm-Teller Syndrome

Piebaldism neurological anomalies Piepkorn karp hickoc syndrome of Pierre Robin cardiopathy club-feet Pierre Robin nanism polydactyly Pierre Robin, sequence of Pierre Robin [wikipedia.qwika.com]

Piebald trait neurologic defects[?] Piebaldism[?] Piepkorn Karp Hickoc syndrome[?] Pierre Marie cerbellar ataxia[?] [encyclopedia.kids.net.au]

[…] trait neurologic defects Piebaldism Piepkorn Karp Hickoc syndrome Pierre Marie cerbellar ataxia Pierre Robin sequence congenital heart defect talipes Pierre Robin sequence [bioreference.net]

Patterson Pseudoleprechaunism Syndrome

Piebaldism neurological anomalies Piepkorn karp hickoc syndrome of Pierre Robin cardiopathy club-feet Pierre Robin nanism polydactyly Pierre Robin, sequence of Pierre Robin [wikipedia.qwika.com]

[…] trait neurologic defects Piebaldism Piepkorn Karp Hickoc syndrome Pierre Marie cerbellar ataxia Pierre Robin sequence congenital heart defect talipes Pierre Robin sequence [bioreference.net]

[…] trait neurologic defects Piebaldism Piepkorn–Karp–Hickoc syndrome Pierre Marie cerbellar ataxia Pierre Robin sequence congenital heart defect talipes Pierre Robin sequence [ipfs.io]

Chédiak-Higashi Syndrome

Overview Practice Essentials Chédiak-Higashi syndrome (CHS) is a rare autosomal recessive lysosomal disorder characterized by frequent infections, oculocutaneous albinism (OCA), bleeding diathesis, and progressive neurologic deterioration. In 85% of cases, CHS patients develop the accelerated phase characterized by[…] [emedicine.medscape.com]

Prata-Libéral-Gonçalves Syndrome

Piebaldism neurological anomalies Piepkorn karp hickoc syndrome of Pierre Robin cardiopathy club-feet Pierre Robin nanism polydactyly Pierre Robin, sequence of Pierre Robin [wikipedia.qwika.com]

[…] trait neurologic defects Piebaldism Piepkorn Karp Hickoc syndrome Pierre Marie cerbellar ataxia Pierre Robin sequence congenital heart defect talipes Pierre Robin sequence [bioreference.net]

Piebald trait neurologic defects[?] Piebaldism[?] Piepkorn Karp Hickoc syndrome[?] Pierre Marie cerbellar ataxia[?] [encyclopedia.kids.net.au]

Klein-Waardenburg Syndrome

Piebaldism Definition Piebaldism is a rare, autosomal dominant disorder. The incidence of piebaldism is estimated to be less than 1:20000. [omicsonline.org]

Waardenburg's syndrome may be closely related to piebaldism. Klein-Waardenburg Syndrome refers to a disorder that also includes upper limb abnormalities. [decs.bvs.br]

Furthermore, Piebaldism with white pigment-less hair strands on the forehead hairline in the area of the midline as well as medially localized white parts of the eyebrows [altmeyers.org]

Oculocerebral Hypopigmentation Syndrome Type Cross

[…] leucism Loss of melanocytes vitiligo : Quadrichrome vitiligo · Vitiligo ponctué · syndromic ( Alezzandrini syndrome · Vogt–Koyanagi–Harada syndrome ) melanocyte development: Piebaldism [wiki30.com]

Hypo- / leucism Loss of melanocytes Vitiligo Quadrichrome vitiligo Vitiligo ponctué Syndromic Alezzandrini syndrome Vogt–Koyanagi–Harada syndrome Melanocyte development Piebaldism [en.wikipedia.org]

Hirschsprung Disease Type D-Brachydactyly Syndrome

Bielschowsky M, Schofield GC (1962) Studies on megacolon in piebald mice. Aust J Exp Biol Med Sci 40: 395–403 PubMed Google Scholar 7. [link.springer.com]

[…] tri22pter-q11 (Cat eye syndrome) syndromic neural crest disorders SHAH- Waardenburg syndrome (WS4) (MIM.277580) Yemenite deaf-blind- hypopigmentation (MIM.601706) BADS (MIM.227010) piebaldism [humpath.com]

Anomaly Peutz-Jeghers Syndrome Pfeiffer Syndrome, Jackson-Weiss Syndrome Pfeiffer Syndrome, Type III Phenylketonuria Pheochromocytoma Phosphoserine Phosphatase Deficiency Piebaldism [sequencing.com]

Acromelanosis

Neoplasm, skin, in situ Riehl's 709.09 tar 709.09 toxic 709.09 Melasma 709.09 Nevus (M8720/0) - see also Neoplasm, skin, benign anemic, anemicus 709.09 avasculosus 709.09 Piebaldism [icd9data.com]

Endocrine Neoplasia Type 2 Netherton Syndrome • • • Back to: « Irregular hyperpigmentation • • • Some more causes may include: 2 Causes of Irregular Hyperpigmentation : Piebald [familydiagnosis.com]

Am J Hum Genet 3: 195–253 PubMed Google Scholar Woolf C, Dolowitz DA, Aldous HE (1965) Congenital deafness associated with piebaldness. [link.springer.com]

Plasmodium Falciparum Malaria

The prevalence of piebaldism is unknown. Piebaldism can be caused by mutations in the KIT and SNAI2 genes. [ghr.nlm.nih.gov]

A clinical diagnosis of piebaldism was made and was discussed at length with the patient. [mdedge.com]

Piebaldism. [atlasgeneticsoncology.org]

Ermine Phenotype

Telfer Sugar Jaeger syndrome 0 *Movement Disorders *Piebaldism. Am J Hum Genet. 1971;23(4):383-9 Ermine phenotype 0 *Hearing Loss, Sensorineural *Piebaldism. [reference.md]

Griscelli syndrome type 2 0 *Immunologic Deficiency Syndromes *Piebaldism. Griscelli syndrome type 1 0 *Hearing Loss, Sensorineural *Pigmentation Disorders *Piebaldism. [reference.md]

Piebaldism may be closely related to Waardenburg's syndrome. hypopigmentation of skin & hair; do not use /congen & do not coord with INFANT, NEWBORN, DISEASES See Also Waardenburg's [reference.md]

Legius Syndrome

[…] history of piebaldism. [onlinelibrary.wiley.com]

This study reveals a novel KIT mutation in piebaldism, and it further supports that café-au-lait macules and intertriginous freckling of piebaldism are parts of pigmented [dovepress.com]

Patients with piebaldism may develop CALM (as presented in Fig. 1 ), NF1 may be associated with piebaldism, and these two distinct conditions may co-exist in one patient [doi.org]

Autosomal Dominant Deafness 11

Piebaldism is found in nearly ever (en) [dbpedia.org]

SDR8C1 601860 5213 immunoglobulin-like domain containing receptor 1 deafness, autosomal recessive 42 ILDR1 DFNB42 609739 28741 KIT proto-oncogene receptor tyrosine kinase piebald [ukgtn.nhs.uk]

Piebaldism and deafness Autosomal dominant c-KIT Tyrosine kinase receptor Variable frequency of deafness and characteristic depigmentation of skin. [academic.oup.com]

Spondyloepimetaphyseal Dysplasia-Hypotrichosis Syndrome

Q969F8 pleiotropic Hypogonadotropic hypogonadism 8 with or without anosmia (HH8) [MIM: 614837 ] Precocious puberty, central 1 (CPPB1) [MIM: 176400 ] KIT P10721 pleiotropic Piebald [sbg.bio.ic.ac.uk]

[…] syndrome Pachyonychia congenita Paget disease of bone Paget disease, juvenile Palmoplantar keratoderma, nonepidermolytic, focal Papillon-Lefevre syndrome Peeling skin syndrome Piebaldism [qlinics.com]

KIT Piebaldism SNAI2 Pityriasis rubra pilaris CARD14 Poikiloderma with neutropenia USB1 Porokeratosis type 3, disseminated superficial actinic MVK Porphyria cutanea tarda [centogene.com]

Congenital Disorder of Glycosylation Type 2H

182212 SMC3 95.1 0.93 0.86 Cornelia de Lange syndrome 3 610759 SMOC2 119.4 0.97 0.92 Dentin dysplasia, type I, with microdontia and misshapen teeth, 125400 SNAI2 151.2 1 0.99 Piebaldism [qgenomics.com]

Piebald Trait - Neurologic Defects Syndrome

Piebald Trait Neurologic Defects Piebald Trait Neurologic Defects “Telfer Sugar Jaeger Syndrome (Piebald Trait Neurologic Defects)” Telfer Sugar Jaeger Syndrome In our body [wellnessadvocate.com]

Piebald Trait Neurologic Defects Piebald Trait Neurologic Defects Telfer-Sugar-Jaeger Syndrome (Piebald Trait Neurologic Defects) “Telfer Sugar Jaeger Syndrome (Piebald Trait [wellnessadvocate.com]

Keywords: Piebaldism, White forelock, Autosomal dominant disorder How to cite this article: Maru S, Mittal A, Masuria B. A piebald family. [ijdvl.com]

Westerhof-Beemer-Cormane Syndrome

Ala J Med Sci 16:330–333 Woolf C, Dolowitz DA, Aldous HE (1965) Congenital deafness associated with piebaldness. [ouci.dntb.gov.ua]

Terminal 4q Deletion Syndrome

This syndrome does not include piebaldism (4q12) or Reiger anomaly (4q25), and it is distinct from the distal-terminal (4q33 - qter) deletions. [nature.com]

[…] of piebaldism which suggests that the role of KIT is not necessarily a simple dosage effect. [docksci.com]

Piebaldism in a mentally retarded girl with rare deletion of long arm of chromosome 4. Pediatr Dermatol. 1993;10:235–9. [PubMed] [Google Scholar] 5. [ncbi.nlm.nih.gov]

White Lock of Occipital Hair

In fact it may occur in several genetic syndromes including piebaldism, Waardenburg syndrome, and tuberous sclerosis [2]. [ncbi.nlm.nih.gov]

Inherited: Marfan’s syndrome, Tuberous sclerosis, Piebaldism, Waardenburg syndrome, Isolated forelock, Isolated occipital (X-linked recessive), White forelock with Osteopathia [medigoo.com]

[…] of Piebaldism?) [altmeyers.org]

Albinism-Deafness Syndrome

Albinism–deafness syndrome is inherited in an X-linked recessive manner Albinism–deafness syndrome is a condition characterized by congenital neural deafness and a severe or extreme piebald [en.wikipedia.org]

Indeed, the pigmentary disorder might be called 'piebald.' Woolf (1965) reported albinism and deafness in 2 Hopi American Indian brothers. [omim.org]

Orpha Number: 998 Disease definition Albinism-deafness syndrome (ADFN) is characterised by congenital nerve deafness and piebaldness with no ocular albinism. [rarediseases.info.nih.gov]

Waardenburg Syndrome Type 2D

Black Locks-Albinism-Deafness syndrome (BADS) (MIM.227010) with total colonic aganglionosis-Hirschsprung disease in one case; aganglionic megacolon associated with familial piebaldism [humpath.com]

Waardenburg's syndrome may be closely related to piebaldism. Klein-Waardenburg Syndrome refers to a disorder that also includes upper limb abnormalities. [ctdbase.org]

Waardenburg Syndrome Type 4B

Cutaneous lesions include achromic patches as seen in piebaldism, and occasionally, hyperpigmented macules on normal-looking skin. [escholarship.org]

Int J Dermatol. 1999; 38(9):656-663 On DermNet NZ Piebaldism Other websites OMIM: #193500 ICD+ WAARDENBURG SYNDROME, TYPE 1; WS1 #193510 ICD+ WAARDENBURG SYNDROME, TYPE 2A [dermnetnz.org]

Biology of human melanocyte development, Piebaldism, and Waardenburg syndrome. Pediatr Dermatol. 2019 Jan. 36 (1):72-84. [QxMD MEDLINE Link]. [emedicine.medscape.com]

Peroxisome Biogenesis Disorder-Zellweger Syndrome Spectrum

The prevalence of piebaldism is unknown. Piebaldism can be caused by mutations in the KIT and SNAI2 genes. [ghr.nlm.nih.gov]

A clinical diagnosis of piebaldism was made and was discussed at length with the patient. [mdedge.com]

Piebaldism has been recognized since the late 17th century as a heritable, stable, patterned hypomelanosis lacking extracutaneous manifestations. [jamanetwork.com]

Nevus Anemicus

These includes but is not limited to vitiligo, pityriasis alba, nevus depigmentosus, tinea versicolor, tuberous sclerosis, halo nevus, piebaldism, Hansen disease (leprosy) [ncbi.nlm.nih.gov]

Waardenburg Syndrome Type 4C

DiGeorge syndrome Therefore, defining the mechanisms of neural crest occasionally attendant pigmentation condition in humans is called Waardenburg - Shah syndrome The terms piebald [amp.en.google-info.cn]

Differential diagnosis The differential diagnosis includes other forms of Waardenburg syndrome, piebaldism and ermine phenotype, as well as other causes of hearing loss or [orpha.net]

Other mutations in some of the above genes can cause related clinical syndromes, such as Tietz syndrome (MITF gene), piebaldism (SNAI2 gene), PCWH (SOX10 gene), or ABCD syndrome [dermnetnz.org]

Familial Progressive Hyperpigmentation with or without Hypopigmentation

Autologous punch grafting for repigmentation in piebaldism may be considered in selected individuals [ 12 ]. Piebaldism is a benign disorder. [omicsonline.org]

[…] leukemia Cutaneous mastocytoma Gastrointestinal stromal tumor Isolated bone marrow mastocytosis Lymphoadenopathic mastocytosis with eosinophilia Nodular urticaria pigmentosa Piebaldism [csbg.cnb.csic.es]

Neoplasm, skin, in situ Riehl's 709.09 tar 709.09 toxic 709.09 Melasma 709.09 Nevus (M8720/0) - see also Neoplasm, skin, benign anemic, anemicus 709.09 avasculosus 709.09 Piebaldism [icd9data.com]

Waardenburg Syndrome Type 2E

Other mutations in some of the above genes can cause related clinical syndromes, such as Tietz syndrome (MITF gene), piebaldism (SNAI2 gene), PCWH (SOX10 gene), or ABCD syndrome [dermnetnz.org]

Piebaldism, Waardenburg syndrome, and related disorders of melanocyte development. Semin Cutaneous Med Surg 1997;16:15–23. Article CAS Google Scholar Fisch L. [nature.com]

Other mutations in some of the above genes can cause related clinical syndromes, such as Tietz syndrome (MITF gene ), piebaldism (SNAI2 gene ), PCWH (SOX10 gene ), or ABCD [dermnetnz.org]

Hirschsprung Disease - Deafness - Polydactyly Syndrome

[…] of these families 153 ; (2) Black Locks-Albinism- Deafness syndrome (BADS, MIM 227010) with TCA-HSCR in one case 169 ; (3) aganglionic megacolon associated with familial piebaldism [yumpu.com]

Cutaneous abnormalities include both hypopigmented lesions and hyperpigmented lesions and can resemble the lesions found in piebaldism, tuberous sclerosis, and neurofibromatosis [neoreviews.aappublications.org]