Piebaldism: Causes & Reasons

Possible Causes for Piebaldism

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]

Piebaldism occurs when a portion of your skin doesn’t have melanocytes, which are cells that produce pigment (melanin). You’re born with piebaldism. [my.clevelandclinic.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]

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]

Piebaldism

Piebaldism. [atlasgeneticsoncology.org]

PMID 8680409 Piebaldism with deafness: molecular evidence for an expanded syndrome. Spritz RA, Beighton P American journal of medical genetics. 1998 ; 75 (1) : 101-103. [AtlasGeneticsOncology.org]

Piebaldism is notable for the absence of extracutaneous manifestations. Evaluation The phenotypic findings of piebaldism will be apparent at birth. [statpearls.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]

Chédiak-Higashi Syndrome

WikiDoc Resources for Chédiak-Higashi syndrome Articles Most recent articles on Chédiak-Higashi syndrome Most cited articles on Chédiak-Higashi syndrome Review articles on Chédiak-Higashi syndrome Articles on Chédiak-Higashi syndrome in N Eng J Med, Lancet, BMJ Media Powerpoint slides on Chédiak-Higashi syndrome[…] [wikidoc.org]

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]

The white patches in piebaldism are stable. [omicsonline.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]

The incidence of piebaldism is estimated to be less than 1/20,000. 10, 11 Awareness of the biologic basis of the distinction between congenital disorders of pigmentation, [accessmedicine.mhmedical.com]

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]

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 [bionity.com]

[…] epilepsy Phthiriophobia Physical urticaria Phytanic acid oxidase deficiency Pi-Pl PIBIDS syndrome Pica Picardi-Lassueur-Little syndrome Pick disease of the brain Pie Torcido Piebald [bioreference.net]

Acromelanosis

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

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]

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

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

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]

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

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]

White Lock of Occipital Hair

[…] of Piebaldism?) [altmeyers.org]

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]

Piebald Trait - Neurologic Defects Syndrome

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

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]

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]

Nevus Anemicus

Fitzpatrick TB Szabo G Hori Y Congenital circumscribed hypomelanosis: A characterization based on electron microscopic study of tuberous sclerosis, nevus depigmentosus, and piebaldism [jaad.org]

Fitzpatrick TB, Szabo G, Hori Y: Congenital circumscribed hypomelanosis: A characterization based on electron microscopic study of tuberous sclerosis, nevus depigmentosus, and piebaldism [karger.com]

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]

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. [atlasgeneticsoncology.org]

Terminal 4q Deletion Syndrome

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

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

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]

[…] 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

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

Because the phenotype of WS resembles several other genetic and physical conditions such as albinism, piebaldism, and vitiligo, these conditions are also summarized and compared [amazon.com]

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

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]

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 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]

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]

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]