Piebaldism (Partial Albinism)

Autosomal dominant, congenital disorder characterized by localized hypomelanosis of the skin and hair. The most familiar feature is a white forelock presenting in 80 to 90 percent of the patients. The underlying defect is possibly related to the differentiation and migration of melanoblasts, as well as to defective development of the neural crest (neurocristopathy). Piebaldism may be closely related to WAARDENBURG SYNDROME.

Also Known As:

Networked: 75 relevant articles (3 outcomes, 5 trials/studies)

Relationship Network

Disease Context: Research Results

Related Diseases

1.	Vitiligo
2.	Mastocytosis
3.	Hermanski-Pudlak Syndrome (Hermansky-Pudlak Syndrome)
4.	Hypopigmentation (Hypomelanosis)
5.	Metrorrhagia (Spotting)

Experts

1.	Bekkenk, M W: 3 articles (05/2021 - 11/2017)
2.	Luiten, R M: 3 articles (05/2021 - 11/2017)
3.	Wolkerstorfer, A: 3 articles (05/2021 - 11/2017)
4.	van Geel, N: 2 articles (05/2021 - 01/2001)
5.	Komen, L: 2 articles (10/2020 - 11/2017)
6.	Lommerts, J E: 2 articles (10/2020 - 11/2017)
7.	Komen, Lisa: 2 articles (02/2017 - 07/2015)
8.	Luiten, Rosalie M: 2 articles (02/2017 - 07/2015)
9.	Vrijman, Charlotte: 2 articles (02/2017 - 07/2015)
10.	Wolkerstorfer, Albert: 2 articles (02/2017 - 07/2015)

Drugs and Biologics

Drugs and Important Biological Agents (IBA) related to Piebaldism:

1.	SuspensionsIBA 04/01/1998 - "In patients with widespread piebaldism we found that by diluting the cell suspension the recipient area could be increased to up to 10 times the size of the donor area with the same good results as without or with less dilution. " 11/01/2017 - "Autologous noncultured cell suspension transplantation is an effective treatment for repigmentation in segmental vitiligo and piebaldism. " 11/01/2017 - "In a randomized, observer-blinded, controlled trial we compared different recipient-site preparations before cell suspension transplantation in segmental vitiligo and piebaldism. " 05/01/2021 - "segmental vitiligo) and piebaldism lesions can be treated with autologous cellular grafting techniques, such as non-cultured cell suspension transplantation (NCST) and cultured melanocyte transplantation (CMT). " 10/01/2020 - "Impact of graft cell density and viability on repigmentation upon noncultured autologous cell suspension transplantation in vitiligo and piebaldism."
2.	Hyaluronic Acid (Hyaluronan)IBA 07/30/2021 - "The aim of this study was to assess the efficacy of non-cultured autologous epidermal cell grafting resuspended in hyaluronic acid, performed using a ready-to-use kit, compared with hyaluronic acid alone (neutral comparator) for repigmenting vitiligo and piebaldism lesions at 6 months. " 07/30/2021 - "Assessment of Non-cultured Autologous Epidermal Cell Grafting Resuspended in Hyaluronic Acid for Repigmenting Vitiligo and Piebaldism Lesions: A Randomized Clinical Trial."
3.	Stem Cell FactorIBA 01/01/1995 - "Novel mutations and deletions of the KIT (steel factor receptor) gene in human piebaldism." 06/01/2009 - "Previous studies have revealed that piebaldism is caused by mutations of the KIT gene, which encodes the cell surface transmembrane tyrosine kinase receptor for KIT ligand. " 11/01/1996 - "The data strongly suggest that piebaldism can result from missense mutations in the Kit ligand-binding domain, although the resulting phenotype may be milder than that observed for null or kinase mutations. " 06/01/1995 - "Piebaldism results from mutations of the kit proto-oncogene, which encodes a cell-surface receptor, tyrosine kinase, whose ligand is the stem/mast cell growth factor. " 11/01/1994 - "Piebaldism results from mutations of the KIT proto-oncogene, which encodes the cell-surface receptor transmembrane tyrosine kinase for an embryonic growth factor, Steel factor. "
4.	Receptor Protein-Tyrosine Kinases (Tyrosine Kinase Receptors)IBA 06/01/2023 - "Inherited or de novo mutations in proto-oncogene KIT, encoding the transmembrane tyrosine kinase receptor c-kit, underly the majority of piebaldism cases. " 03/01/2023 - "Piebaldism is a rare genetic disorder of congenital leukoderma caused by mutation in KIT proto-oncogene receptor tyrosine kinase. " 06/01/2009 - "Previous studies have revealed that piebaldism is caused by mutations of the KIT gene, which encodes the cell surface transmembrane tyrosine kinase receptor for KIT ligand. " 11/01/1992 - "We have previously shown that piebaldism can result from missense and frameshift mutations of the KIT proto-oncogene, which encodes the cellular receptor tyrosine kinase for the mast/stem cell growth factor. "
5.	Proto-Oncogene Proteins c-kit (Proto-Oncogene Protein c-kit)IBA 02/01/1995 - "In piebaldism, hypomelanotic epidermis contained only a few TA99-positive epidermal melanocytes and no detectable c-kit protein, whereas in naevus depigmentosus the expression of c-kit protein was strong, and TA99 immunoreactivity was faint. " 01/01/1994 - "Defects in the genes encoding for the SCF receptor (c-kit-protein) have been shown to be responsible for human piebaldism. " 02/01/1998 - "Several studies have also associated c-kit receptor mutations with the human diseases, mastocytosis and piebaldism. " 02/01/1995 - "Different hypomelanotic lesions can thus be differentiated by absent melanocyte c-kit protein and low or no expression of melanosomal marker in piebaldism, normal c-kit but low melanosome expression in naevus depigmentosus, and the absence of all melanocyte markers in vitiligo." 02/01/1995 - "In order to investigate possible alterations in c-kit protein expression on epidermal melanocytes in different hypopigmentary disorders, we have examined skin specimens from one patient with piebaldism, one patient with naevus depigmentosus, and five patients with vitiligo. "
6.	Growth Factor ReceptorsIBA 03/01/1994 - "A heterozygous mutation of the c-kit gene encoding mast cell-stem cell growth factor receptor induces piebaldism. " 09/01/1993 - "A recurrent deletion in the KIT (mast/stem cell growth factor receptor) proto-oncogene is a frequent cause of human piebaldism." 07/01/1993 - "Novel mutations of the KIT (mast/stem cell growth factor receptor) proto-oncogene in human piebaldism." 01/01/1993 - "The discovery that human piebald trait, a hereditary disorder with a high incidence of HD, is caused by mutations in a growth factor receptor highlights the importance of regulatory intercellular interactions between nonneuroblastic mesenchyme and neuroblasts during normal development of the enteric nervous system. " 11/01/1992 - "Mutations of the KIT (mast/stem cell growth factor receptor) proto-oncogene account for a continuous range of phenotypes in human piebaldism."
7.	Phosphotransferases (Kinase)IBA 05/01/2011 - "Two children with a mild or moderate piebaldism phenotype and a father without leukoderma in a family with the same recurrent missense mutation in the kinase domain of KIT." 09/01/2010 - "A novel mutation in the kinase domain of KIT in an Indian family with a mild piebaldism phenotype." 01/06/1998 - "In a South African girl of Xhosa stock with severe piebaldism and profound congenital sensorineural deafness we identified a novel missense substitution at a highly conserved residue in the intracellular kinase domain of the KIT proto-oncogene, R796G. " 04/12/2000 - "Kinase-inactivating HIKE mutations cause Hirschsprung's disease, piebaldism, insulin resistance and developmental dysplasias. " 11/01/1996 - "The data strongly suggest that piebaldism can result from missense mutations in the Kit ligand-binding domain, although the resulting phenotype may be milder than that observed for null or kinase mutations. "
8.	Proteins (Proteins, Gene)FDA Link 07/01/2018 - "These data reveal an aberrant function and intracellular localization of mutant KIT protein in piebaldism." 05/01/2015 - "Mutation in this protein may cause complete or partial albinism. " 01/01/2021 - "The function of SALL1 is largely unknown, though it is predicted to interact with the Hermansky-Pudlak Syndrome type 1 (HPS1) protein, which causes partial albinism in humans. " 05/01/2013 - "Based on our current understanding of KIT and SPRED1 protein interactions, we propose that café-au-lait macules and freckling may be seen in some patients with piebaldism and does not necessarily represent coexistence of neurofibromatosis type 1." 01/01/2013 - "The defect results in the impairment of the adaptor protein 3 (AP-3) complex, responsible for protein sorting to secretory lysosomes leading to oculo-cutaneous albinism, bleeding disorders and immunodeficiency. "
9.	Protein-Tyrosine Kinases (Tyrosine Kinase)IBA 06/01/2023 - "The data showed that piebaldism patients with cafè-au-lait macules had KIT mutations almost located in the intracellular tyrosine kinase domain and were mostly related to the severe clinical phenotype of piebaldism. " 06/01/2015 - "Our results provide additional support that mutations in the tyrosine kinase domain of the KIT gene are responsible for the severe form of piebaldism." 07/01/1993 - "Piebaldism results from mutations of the KIT proto-oncogene, which encodes the cellular receptor transmembrane tyrosine kinase for mast/stem cell growth factor. " 11/01/1996 - "Heterozygous mutations in the gene for the Kit transmembrane receptor have been identified recently in human piebaldism and mouse "dominant spotting." Interestingly, all of the 14 known missense mutations that cause depigmentation in these species map to the tyrosine kinase domain of the receptor, whereas none have involved the extracellular ligand-binding domain. " 06/01/1995 - "Piebaldism results from mutations of the kit proto-oncogene, which encodes a cell-surface receptor, tyrosine kinase, whose ligand is the stem/mast cell growth factor. "
10.	DNA (Deoxyribonucleic Acid)IBA 01/01/2022 - "To identify KIT gene mutations in three pediatric piebaldism patients from different families and explore the genotype-phenotype correlation, peripheral blood DNA were collected from probands and their parents. " 10/01/2005 - "PCR and DNA sequencing were carried out to detect gene mutation of a family with piebaldism. " 02/01/2001 - "Genetic analysis of genomic DNA from both the mother and daughter with progressive piebaldism revealed a novel Val620Ala (1859T>C) mutation in the KIT gene, which was not detected in family members without progressive piebaldism or in 52 normal control individuals. " 12/01/1991 - "To investigate the possibility that alterations in the human c-kit gene may be a cause of piebald trait, DNA from seven unrelated affected individuals was examined by Southern blot analysis. " 06/01/1992 - "To confirm the hypothesis that piebaldism results from mutations in the human gene, c-kit exons were amplified by polymerase chain reaction from the DNA of 10 affected subjects and screened for nucleotide changes by single-stranded conformation polymorphism analysis. "

Therapies and Procedures

1.	Transplantation 06/01/1995 - "Ocular and cutaneous albinism were not corrected after transplantation. " 07/01/1997 - "Successful repigmentation was achieved in 6 patients with three types of hypomelanosis (vitiligo, piebaldism, and albinism) by transplantation of fresh, autologous cultured epithelium with melanocytes. " 11/01/2017 - "Autologous noncultured cell suspension transplantation is an effective treatment for repigmentation in segmental vitiligo and piebaldism. " 11/01/2017 - "In a randomized, observer-blinded, controlled trial we compared different recipient-site preparations before cell suspension transplantation in segmental vitiligo and piebaldism. " 05/01/2021 - "segmental vitiligo) and piebaldism lesions can be treated with autologous cellular grafting techniques, such as non-cultured cell suspension transplantation (NCST) and cultured melanocyte transplantation (CMT). "
2.	Autologous Transplantation 02/01/2017 - "Optimising size and depth of punch grafts in autologous transplantation of vitiligo and piebaldism: a randomised controlled trial."
3.	Therapeutics 11/01/1998 - "Dermabrasion and split-skin grafting followed by minigrafting should be considered as the first choice of therapy in piebaldism." 10/01/1995 - "Refractory and stable defects of vitiligo and piebaldism may be unresponsive to medical therapy. " 10/01/1995 - "Surgical combination therapy for vitiligo and piebaldism."
4.	Gas Lasers 11/01/2017 - "Autologous cell suspension grafting in segmental vitiligo and piebaldism: a randomized controlled trial comparing full surface and fractional CO2 laser recipient-site preparations."
5.	Solid-State Lasers 04/01/2004 - "Permanent repigmentation of piebaldism by erbium:YAG laser and autologous cultured epidermis."