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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:

Partial Albinism; Cutaneous Albinism; Albinism, Cutaneous; Albinism, Partial

Networked: 44 relevant articles (0 outcomes, 2 trials/studies) for this Disease, Comments

Disease Context: Research Results

Related Diseases

1.	Mastocytosis (Mast-Cell Disease)
2.	Vitiligo
3.	Waardenburg's Syndrome (Waardenburg Syndrome)
4.	Hypopigmentation (Hypomelanosis)
5.	Deafness (Deaf Mutism)

Experts

1.	Surace, Enrico M: 1 article (08/2009)
2.	Neglia, Simona: 1 article (08/2009)
3.	Montefusco, Sandro: 1 article (08/2009)
4.	Marrocco, Elena: 1 article (08/2009)
5.	Gargiulo, Annagiusi: 1 article (08/2009)
6.	Domenici, Luciano: 1 article (08/2009)
7.	Di Vicino, Umberto: 1 article (08/2009)
8.	Corte, Michele Della: 1 article (08/2009)
9.	Bonetti, Ciro: 1 article (08/2009)
10.	Auricchio, Alberto: 1 article (08/2009)

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. " Order ALL the reference details at left...
2.	Protein-Tyrosine Kinases (Tyrosine Kinase)IBA 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. " Order ALL the reference details at left...
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. " Order ALL the reference details at left...
4.	Phosphotransferases (Kinase)IBA 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. " 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. " 06/01/1991 - "In the mouse, genes residing in three loci in which inactivation mutations lead to piebaldism, the dominant spotting (W), patch (Ph), and Sl encode, respectively, the receptor-kinases c-kit and platelet derived growth factor receptor, and the ligand for c-kit: MGF. " Order ALL the reference details at left...
5.	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. " Order ALL the reference details at left...
6.	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. " Order ALL the reference details at left...
7.	Transcription Factors (Transcription Factor)IBA 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. " 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. " Order ALL the reference details at left...
8.	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 - "BACKGROUND: 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. " Order ALL the reference details at left...
9.	Codon (Codons)IBA 02/01/2001 - "Although other KIT mutations in the vicinity of codon 620 lead to the standard phenotype of static piebaldism, the Val620Ala mutation is novel and may result in a previously undescribed phenotype with melanocyte instability, leading to progressive loss of pigmentation as well as the progressive appearance of the hyperpigmented macules." 09/01/1992 - "Effect of the c-kit codon 584 Phe----Leu substitution demonstrated in human piebaldism." 11/01/1996 - "The first mutation, found in two apparently unrelated probands with mild piebaldism and English ancestry, substitutes an arginine for a highly conserved cysteine at codon 136. " Order ALL the reference details at left...
10.	tyrosine receptor (receptor, tyrosine)IBA 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. " 06/01/2000 - "Mutations in receptor tyrosine kinases (RTKs) have been linked to an increasing number of inherited human disease syndromes, including dwarfism, craniosynostosis, heritable cancer susceptibility, venous malformation and Piebaldism. " 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. " Order ALL the reference details at left...

Therapies and Procedures

1.	Transplants (Transplant) 04/01/2004 - "OBJECTIVES: 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." 06/01/2008 - "Obtaining pigmentary function in autologous skin grafts is a current challenge for burn surgeons as is developing reliable robust grafting strategies for patients with vitiligo and piebaldism. " Order ALL the reference details at left...
2.	Transplantation (Transplant Recipients) 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. " 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. " Order ALL the reference details at left...
3.	Autologous Transplantation (Autograft) 07/01/1979 - "Pigmentary correction of piebaldism by autografts. " 11/01/1977 - "Full-thickness and epidermal autografts of normally pigmented skin were transplanted within hypopigmented areas in each of two patients with piebaldism. " 11/01/1977 - "Pigmentary correction of piebaldism by autografts. " Order ALL the reference details at left...
4.	Solid-State Lasers 04/01/2004 - "Permanent repigmentation of piebaldism by erbium:YAG laser and autologous cultured epidermis." Order ALL the reference details at left...
5.	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." Order ALL the reference details at left...

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