Piebaldism: Causes & Reasons

Warning: Do not use in emergencies, if pregnant, if under 18, or as a substitute for a doctor’s advice or diagnosis. Learn more

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. [doi.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]

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]

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]

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]

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]

Piebaldism

Keywords: Autosomal dominant, piebaldism, pigmentary disorder INTRODUCTION Piebaldism is a rare autosomal dominant disorder characterized by the congenital absence of melanocytes [ncbi.nlm.nih.gov]

A proximal frameshift is associated with a mild piebald phenotype, and a splice-junction mutation is associated with a highly variable piebald phenotype. [ncbi.nlm.nih.gov]

(c. 2484+1G>A) of KIT gene cosegregated with the auburn hair color and piebaldism. [ncbi.nlm.nih.gov]

Chédiak-Higashi Syndrome

Abstract Purpose of review Chediak-Higashi syndrome, a rare autosomal recessive disorder, was described over 50 years ago. Patients show hypopigmentation, recurrent infections, mild coagulation defects and varying neurologic problems. Treatment is bone marrow transplant, which is effective in treating the[…] [doi.org]

Klein-Waardenburg Syndrome

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]

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

See Related English: Piebaldism History Note English: 2013 (1966); use ABNORMALITIES, MULTIPLE 1975-1990; Waardenburg's Syndrome 1991-2012 Allowable Qualifiers English: BL [decs.bvs.br]

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]

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]

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]

Plasmodium Falciparum Malaria

Keywords: Autosomal dominant, piebaldism, pigmentary disorder How to cite this article: Agarwal S, Ojha A. Piebaldism: A brief report and review of the literature. [idoj.in]

Moreover, piebaldism spares the dorsal midline, hands, feet, and periorificial areas. [mdedge.com]

Other parts of the body can also be affected by piebaldism. [medicalnewstoday.com]

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]

Deafness, Autosomal Dominant 23

HARS2 Perrault syndrome 2, 614926 CLPP Perrault syndrome 3, 614129 LARS2 Perrault syndrome 4, 615300 PRPS1 Phosphoribosylpyrophosphate synthetase superactivity,300661 SNAI2 Piebaldism [gsdseq.ir]

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]

Transient Neonatal Pustular Melanosis

98 99 Granuloma annulare 98 100 Neurofibroma and lipomas 100 102 Sweat gland tumors 102 104 Postinflammatory hypopigmentation and pityriasis alba 104 105 Vitiligo 105 106 Piebaldism [books.google.com]

A partial lack of pigmentation is termed piebaldism or partial albinism. [plasticsurgerykey.com]

[…] varicella Candidiasis Congenital syphilis Pustular lesions Candidiasis Erythema toxicum Transient neonatal pustular melanosis Neonatal acne Milia Birthmarks White Albinism Piebaldism [plasticsurgerykey.com]

Laron Syndrome with Immunodeficiency

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

Hypochondroplasia, Thanatophoric dysplasia, Muenke syndrome) INSR (Donohue syndrome Rabson–Mendenhall syndrome) NTRK1 (Congenital insensitivity to pain with anhidrosis) KIT (KIT Piebaldism [en.wikipedia.org]

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 (Piebald Trait [wellnessadvocate.com]

Woolf syndrome is piebaldism associated with deafness, but whether this is true piebaldism or some other disease is un-clear. [clinicaladvisor.com]

Keywords: Autosomal dominant, piebaldism, pigmentary disorder How to cite this article: Agarwal S, Ojha A. Piebaldism: A brief report and review of the literature. [idoj.in]

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]

Not Appear To Be Associated With A Specific Phenotype Nose Short Nose With Depressed Bridge Anteverted Nostrils Thorax Short Sternum And Supernumerary Ribs Skin Occasional Piebaldism [neo-genetics.com]

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]

[…] for information on rare diseases and orphan drugs.Orpha Number: 998Disease definitionAlbinism-deafness syndrome (ADFN) is characterised by congenital nerve deafness and piebaldness [malacards.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. [Medline]. [emedicine.medscape.com]

Waardenburg Syndrome Type 2D

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

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]

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]

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]

Amelogenesis Imperfecta Type 2A4

Syndrome Type 1 2 Ehlers-Danlos Syndrome Type 3 Ehlers-Danlos Syndrome Type 4 ERCC4 FGFR2 FGFR3 FLG FLNB GUCY2C HR IKBKG IRF8 KRT14 KRT16 KRT17 LAMA3 LAMB3 PARN pattern Piebaldism [ggcdna.com]

Waardenburg Syndrome Type 2C

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]

Piebaldism, Waardenburg syndrome, and related disorders of melanocyte development. Semin Cutaneous Med Surg 1997;16:15–23. CAS Article Google Scholar 30 Fisch L. [nature.com]

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

Familial Progressive Hyper- and 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]

Grover's Disease

Piebaldism may be associated with other disorders such as Hirschsprung disease, neurofibromatosis type I, congenital dyserythropoietic anemia type II, Diamond-Blackfan anemia [medical-dictionary.thefreedictionary.com]

Waardenburg Syndrome

WS is relatively rare, although it is thought to be a more global disease of neural crest development compared to piebaldism. [dermatologyadvisor.com]

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]

The differential diagnosis of Waardenburg syndrome-related disorders – depending on the major symptoms in the initial case – includes the following diseases: Piebaldism Woolf [centogene.com]

Hornova-Dlurosova Syndrome

89: ENSG00000163666 - Ensembl, May 2017 deficiency Phytophotodermatitis PIBI D S syndrome Pica Picardi Lassueur Little syndrome Pick disease Pickardt syndrome Pie Torcido Piebald [amp.en.google-info.in]