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] Hypo-/ leucism Loss of melanocytes Vitiligo Quadrichrome vitiligo Vitiligo ponctué Syndromic Alezzandrini syndrome Vogt–Koyanagi–Harada syndrome Melanocyte development Piebaldism [en.wikipedia.org] Stable types of leucoderma, i.e. segmental vitiligo and piebaldism, responded in most cases with 100% repigmentation, regardless of the surgical method used. [ncbi.nlm.nih.gov] 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] Piebaldism 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] PMID 7529964 Mutations in the ligand-binding domain of the kit receptor: an uncommon site in human piebaldism. [AtlasGeneticsOncology.org] Chédiak-Higashi Syndrome A 10-year-old boy with Chediak-Higashi syndrome in accelerated phase failed to respond to treatment with ascorbic acid, vincristine, and prednisone. Splenectomy resulted in clinical, hematologic, and immunologic improvement: his leukocyte chemotactic and phagocytic functions returned to normal. We suggest that[…] [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] […] 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 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] 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] 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] 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] Legius Syndrome […] 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] 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] 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] 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] Piebaldism has been recognized since the late 17th century as a heritable, stable, patterned hypomelanosis lacking extracutaneous manifestations. [jamanetwork.com] A clinical diagnosis of piebaldism was made and was discussed at length with the patient. [mdedge.com] 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] 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] Hypogonadism Hypochondroplasia, Thanatophoric dysplasia, Muenke syndrome) INSR (Donohue syndrome Rabson–Mendenhall syndrome) NTRK1 (Congenital insensitivity to pain with anhidrosis) KIT (KIT Piebaldism [en.wikipedia.org] Aspirin-Induced Asthma Hypochondroplasia, Thanatophoric dysplasia, Muenke syndrome ) INSR ( Donohue syndrome Rabson–Mendenhall syndrome ) NTRK1 ( Congenital insensitivity to pain with anhidrosis ) KIT ( KIT Piebaldism [ipfs.io] Hypochondroplasia, Thanatophoric dysplasia, Muenke syndrome) INSR (Donohue syndrome Rabson–Mendenhall syndrome) NTRK1 (Congenital insensitivity to pain with anhidrosis) KIT (KIT Piebaldism [en.wikipedia.org] Vaginospasm PEYRONIE DiagnosisOrProblem PIANOMA GrowthOrForeignBody PIBLOKTO DiagnosisOrProblem PIC Device PICAS DiagnosisOrProblem PICHINDE Organism PICKWICKIAN DiagnosisOrProblem PIEBALDISM [phillipodam.wordpress.com] 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] Thrombocytopenia Hypochondroplasia, Thanatophoric dysplasia, Muenke syndrome ) INSR ( Donohue syndrome Rabson–Mendenhall syndrome ) NTRK1 ( Congenital insensitivity to pain with anhidrosis ) KIT ( KIT Piebaldism [en.wikipedia.org] Heterozygous Familial Hypercholesterolemia Hypochondroplasia, Thanatophoric dysplasia, Muenke syndrome) INSR (Donohue syndrome Rabson–Mendenhall syndrome) NTRK1 (Congenital insensitivity to pain with anhidrosis) KIT (KIT Piebaldism [en.wikipedia.org] Hypertelorism […] syndrome, neurofibromatosis, LEOPARD syndrome, Crouzon syndrome, Wolf-Hirschhorn syndrome, Andersen–Tawil syndrome, Waardenburg syndrome and cri du chat syndrome, along with piebaldism [facecorrection.com] […] syndrome, neurofibromatosis,[4] LEOPARD syndrome, Crouzon syndrome, Wolf–Hirschhorn syndrome, Andersen–Tawil syndrome, Waardenburg syndrome and cri du chat syndrome, along with piebaldism [en.wikipedia.org] 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] 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] Haddad Syndrome Haddad syndrome is associated with Down syndrome Piebaldism Goldberg-Shprintzen syndrome Clinical features Approximately 10% of patients with Haddad syndrome have a positive [healthcaremagic.com] Biology of human melanocyte development, Piebaldism, and Waardenburg syndrome. Pediatric Dermatology, Vol. 36, Issue. 1, p. 72. [cambridge.org] […] 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] 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] Cenani Syndactylism Thanatophoric dysplasia, Muenke syndrome ) · INSR ( Donohue syndrome · Rabson–Mendenhall syndrome ) · NTRK1 ( Congenital insensitivity to pain with anhidrosis ) · KIT ( KIT Piebaldism [dictionary.sensagent.com] Hypochondroplasia, Thanatophoric dysplasia, Muenke syndrome) INSR (Donohue syndrome Rabson–Mendenhall syndrome) NTRK1 (Congenital insensitivity to pain with anhidrosis) KIT (KIT Piebaldism [theinfolist.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] Autosomal-Recessive Robinow Syndrome Hypochondroplasia, Thanatophoric dysplasia, Muenke syndrome ) INSR ( Donohue syndrome Rabson–Mendenhall syndrome ) NTRK1 ( Congenital insensitivity to pain with anhidrosis ) KIT ( KIT Piebaldism [en.wikipedia.org] Familial Hypercholesterolemia Type 1 Hypochondroplasia, Thanatophoric dysplasia, Muenke syndrome) INSR (Donohue syndrome Rabson–Mendenhall syndrome) NTRK1 (Congenital insensitivity to pain with anhidrosis) KIT (KIT Piebaldism [en.wikipedia.org] Oculocutaneous Albinism Piebaldism List of cutaneous conditions List of cutaneous conditions associated with increased risk of nonmelanoma skin cancer Oculocutaneous albinism information at RareDiseases.org [en.wikipedia.org] Abstract Pigmentation disorders span the genetic spectrum from single-gene autosomal recessive disorders such as oculocutaneous albinism (OCA), the autosomal dominant disorder piebaldism [ncbi.nlm.nih.gov] Melanin stains will be negative in vitiligo and piebaldism and slightly to moderately positive in albinism and other disorders. [clinicaladvisor.com]
