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's syndrome.

Also Known As:

Networked: 85 relevant articles (0 outcomes, 2 trials/studies)

Disease Context: Research Results

Related Diseases

1.	Mastocytosis (Mast-Cell Disease)
2.	Vitiligo
3.	Hypopigmentation (Hypomelanosis)
4.	Waardenburg's Syndrome (Waardenburg Syndrome)
5.	Oculocutaneous Albinism (Albinism, Yellow Mutant)

Experts

1.	Suzuki, Tamio: 3 articles (05/2013 - 11/2004)
2.	Oiso, Naoki: 2 articles (05/2013 - 05/2011)
3.	Fukai, Kazuyoshi: 2 articles (05/2013 - 05/2011)
4.	Kawada, Akira: 2 articles (05/2013 - 05/2011)
5.	Sánchez-García, I: 2 articles (01/2006 - 10/2003)
6.	Sánchez-Martín, Manuel: 2 articles (04/2005 - 10/2003)
7.	Wolkerstorfer, Albert: 1 article (07/2015)
8.	Krebbers, Gabrielle: 1 article (07/2015)
9.	Tjin, Esther P M: 1 article (07/2015)
10.	de Rie, Menno A: 1 article (07/2015)

Drugs and Biologics

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

1.	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. " 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. " 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. "
2.	Protein-Tyrosine Kinases (Tyrosine Kinase)IBA 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. " 06/01/2009 - "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. " 11/01/1994 - "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. "
3.	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. "
4.	CatatrichyIBA 01/01/2015 - "We report a Chinese piebaldism family including a 28-year-old woman and her 3-year-old son with characteristics of white patches and forelock associated with numerous brown macules and patches. " 01/01/2015 - "Piebaldism is a rare autosomal dominant genodermatosis, manifesting as congenital and stable depigmentation of the skin and white forelock. " 06/01/2013 - "A Chinese family with piebaldism presenting with white forelock and large depigmented skin macules on the abdomen, arms and legs was collected. " 06/01/2013 - "Human piebaldism is a rare autosomal dominant condition characterized by congenital white forelock and depigmented patches of skin, typically on the forehead, anterior trunk and extremities. " 05/01/2013 - "Piebaldism is an uncommon autosomal dominantly inherited pigment anomaly characterized by a congenital white forelock and leukoderma on the frontal scalp, forehead, ventral trunk and extremities. "
5.	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. "
6.	Griscelli syndrome type 2IBA 05/01/2015 - "Griscelli syndrome type 2 is a rare primary immunodeficiency state with characteristic silvery hair, partial albinism, and immunological abnormalities. " 01/01/2014 - "Griscelli syndrome type 2 is characterised by partial albinism and primary immunodeficiency. " 08/01/2013 - "Partial albinism with variable immunodeficiency are the two major characteristics of Griscelli syndrome type 2 (GS-2). " 09/01/2010 - "We identified a Hispanic patient born of a consanguineous union who presented with immunodeficiency, partial albinism, hepatic dysfunction, hemophagocytosis, neurological impairment, nystagmus, and silvery hair indicative of Griscelli Syndrome Type 2 (GS2). " 06/01/2010 - "Human Griscelli syndrome type 2 (GS-2) is characterized by partial albinism and a severe immunologic disorder as a result of RAB27A mutations. "
7.	Monophenol Monooxygenase (Tyrosinase)IBA 08/01/1998 - "melan-a2 (black, wild type), melan-b (brown, TRP-1 mutation), melan-s (black, piebaldism mutation) and melan-c (white, tyrosinase mutation) in response to repeated exposure to ultraviolet (UV) B (5 mJ/cm2, 7 consecutive days). " 08/01/2009 - "Oculo-cutaneous albinism type 1 (OCA1) is characterized by congenital hypopigmentation and is due to mutations in the TYROSINASE gene (TYR). " 10/01/1980 - "Clear ethnic differences are observed in the major form of tyrosinase-negative oculocutaneous albinism as well as in other forms of oculocutaneous albinism, cutaneous albinism and the very rare ocular albinism. " 08/01/2009 - "AAV-mediated tyrosinase gene transfer restores melanogenesis and retinal function in a model of oculo-cutaneous albinism type I (OCA1)." 03/01/1987 - "Two forms of cutaneous albinism in the chicken were investigated for the presence and distribution of tyrosinase and acid phosphatase in melanocytes in situ and in culture. "
8.	DNA (Deoxyribonucleic Acid)IBA 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. " 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. " 11/01/1992 - "Using DNA of a patient with piebaldism, mental retardation, and multiple congenital anomalies associated with a 46,XY,del(4) (q12q21.1) karyotype, we carried out quantitative Southern blot hybridization analyses of the KIT gene and the adjacent PDGFRA (platelet-derived growth factor receptor alpha subunit) genes. "
9.	Transcription Factors (Transcription Factor)IBA 02/01/2001 - "We hypothesized that an 8-year-old girl and her mother who had unusual piebaldism of a progressive nature would have a novel mutation of the KIT gene, the gene that is altered in patients with piebaldism, or of the MITF (microphthalmia activating transcription factor) gene, which would be expected to cause type II Waardenburg syndrome, but is associated with a phenotype of progressive depigmentation in mice. " 01/01/2006 - "The Snail-related zinc-finger transcription factor, SLUG (SNAI2), is critical for the normal development of neural crest-derived cells and loss-of-function SLUG mutations have been proven to cause piebaldism and Waardenburg syndrome type 2 in a dose-dependent fashion. " 04/28/2005 - "The SNAIL-related zinc-finger transcription factor, SLUG (SNAI2), is critical for the normal development of neural crest-derived cells and loss-of-function SLUG mutations have been proven to contribute to piebaldism and Waardenburg syndrome type 2 in a dose-dependent fashion. "
10.	Melanins (Melanin)IBA 02/01/2003 - "Microscopic analysis of her hair shafts revealed irregularly distributed small and large clumps of melanin, and skin biopsy findings were consistent with partial albinism. " 11/01/2002 - "In vitiligo and piebaldism the lack of melanin in the epidermis is due to the fact that melanocytes are missing. " 04/01/1988 - "The striking parallel between the melanin pigmentary abnormalities of the hair and skin in piebaldism, Waardenburg's syndrome, piebaldism with deafness, and piebaldism or Waardenburg's syndrome with aganglionosis of the gut suggests that all these disorders belong to the same category. "

Therapies and Procedures

1.	Transplants (Transplant) 05/01/2010 - "This article describes the importance of transplant techniques using noncultured melanocytes (minigrafting) in the treatment of piebaldism." 05/01/2010 - "Melanocyte transplant in piebaldism: case report." 04/01/2004 - "To induce permanent repigmentation of large achromic lesions in patients suffering from piebaldism by means of autologous cultured epidermal grafts using a rapid, simple and non-invasive surgical procedure. " 01/01/1996 - "Graft-versus-host reaction affecting lesional skin but not normal skin in a patient with piebaldism." 11/01/1997 - "Epidermal sheet grafts for repigmentation of vitiligo and piebaldism, with a review of surgical techniques."
2.	Transplantation (Transplant Recipients) 06/01/1995 - "Ocular and cutaneous albinism were not corrected after transplantation. " 07/01/2015 - "Autologous cell suspension transplantation using a cell extraction device in segmental vitiligo and piebaldism patients: A randomized controlled pilot study." 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. " 01/01/2001 - "Transplantation techniques using cultured and noncultured keratinocyte and/or melanocyte suspensions or sheets have been reported as successful in inducing repigmentation in achromic epidermal diseases such as vitiligo and piebaldism. "
3.	Solid-State Lasers 04/01/2004 - "Permanent repigmentation of piebaldism by erbium:YAG laser and autologous cultured epidermis."
4.	Stem Cell Transplantation 01/01/2000 - "Accelerated phase in partial albinism with immunodeficiency (Griscelli syndrome): genetics and stem cell transplantation in a 2-month-old girl."
5.	Skin Transplantation (Skin Grafting) 11/01/1998 - "Dermabrasion and split-skin grafting followed by minigrafting should be considered as the first choice of therapy in piebaldism." 11/01/1998 - "Repigmentation of leucodermic defects in piebaldism by dermabrasion and thin split-thickness skin grafting in combination with minigrafting."