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