We present 9-year-old fraternal twins from a family with piebaldism, having congenital depigmented macules and meeting the diagnostic criteria for neurofibromatosis type 1 (NF1) due to the multiple café-au-lait macules (CALMs) and intertriginous freckling at the same time. It's still a debatable issue that CALMs and intertriginous freckling may be seen in the clinical spectrum of piebaldism or these patients should be regarded as coexistence of piebaldism and NF1. However, based on recent literature and our patients' findings, we suggest that this rare phenotypic variant of piebaldism may not need the careful clinical follow-up and molecular testing for NF1. Besides, it may be suitable that these individuals with piebaldism showing NF1-like clinical phenotypes should be further tested for KIT and SPRED1 gene mutations.
Cafe-au-Lait Spots ; Child ; Follow-Up Studies ; Humans ; Melanosis ; Neurofibromatoses ; Neurofibromatosis 1 ; Phenotype ; Piebaldism ; Skin Diseases, Genetic ; Twins, Dizygotic

No abstract available.
Asian Continental Ancestry Group* ; Humans ; Mutation, Missense* ; Piebaldism*

OBJECTIVETo identify the pathogenic mutation underlying piebaldism in a Chinese family.

METHODSA three-generation family showing an autosomal dominant transmission of piebaldism was recruited. Potential mutations of the KIT and SNAI2 genes were detected by PCR-amplification of the exons and exon-intron boundaries and direct sequencing.

RESULTSA heterozygous missense mutation, c.2585T>C, was identified in exon 18 of the KIT gene. The mutation, together with a c.2586G>C polymorphism, has led to substitution of Leucine by Proline at amino acid residue 862 (p.Leu862Pro) of the mast/stem cell growth factor receptor KIT. The same mutation was detected in all affected family members but not in dbSNP142, the 1000 Genomes draft database, or the Human Gene Mutation Database. No mutation of the SNAI2 gene was found.

CONCLUSIONThe c.2585T>C (p.Leu862Pro) mutation in the KIT gene probably underlies the piebaldism phenotype in this family.

Amino Acid Sequence ; Asian Continental Ancestry Group ; genetics ; Base Sequence ; China ; DNA Mutational Analysis ; methods ; Exons ; genetics ; Family Health ; Female ; Genetic Predisposition to Disease ; ethnology ; genetics ; Heterozygote ; Humans ; Infant ; Introns ; genetics ; Male ; Mutation, Missense ; Pedigree ; Phenotype ; Piebaldism ; ethnology ; genetics ; Polymerase Chain Reaction ; Polymorphism, Single Nucleotide ; Proto-Oncogene Proteins c-kit ; genetics ; Sequence Homology, Amino Acid

No abstract available.
Neurofibromatosis 1* ; Piebaldism*

OBJECTIVETo screen for potential mutations of KIT gene for two Chinese families affected with piebaldism in order to facilitate genetic counseling and assisted reproduction.

METHODSPeripheral blood samples were collected from 2 patients of family 1 and the proband and 3 unaffected members of family 2 for the extraction of DNA and RNA. PCR-sequencing and reverse transcription PCR-sequencing were used to screen KIT mutations.

RESULTSAll of the patients from family 1 were found to carry heterozygous IVS12+2-+7delinsACATCTTTA, a splicing mutation undocumented in the human gene mutation data base (HGMD) database. This mutation has resulted in c.1765-1779del in cDNA and p.Gly592Ala/del:E12, which has led to skipping of exon 12 and no expression of cDNA. The proband from family 2 has carried a heterozygous c.2401A>C mutation in KIT gene. The same mutation was not found in unaffected members.

CONCLUSIONWe have attained definite diagnosis for both families, which has facilitated genetic counseling and assisted reproduction for our patients and their family members.

Adult ; Asian Continental Ancestry Group ; genetics ; Base Sequence ; Child ; China ; Female ; Frameshift Mutation ; Humans ; Male ; Molecular Sequence Data ; Pedigree ; Piebaldism ; genetics ; Point Mutation ; Proto-Oncogene Proteins c-kit ; genetics ; Young Adult

BACKGROUNDHuman 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. Mutations in the KIT gene have been proposed to be responsible for the underlying changes in this disorder. The aim of this study was to identify gene mutation in a Chinese family with piebaldism.

METHODSA Chinese family with piebaldism presenting with white forelock and large depigmented skin macules on the abdomen, arms and legs was collected. DNA was isolated from peripheral blood of the family members. The encoding exons with flanking intron regions of the KIT gene were analyzed by polymerase chain reactions (PCR) and direct DNA sequencing. Besides, DNA extracted from 100 ethnically matched population individuals was as controls.

RESULTSA heterozygous missense mutation c.2590T > C was identified in the patients of the family. This mutation converted a serine residue to proline (p.Ser864Pro). The mutation was not found in their unaffected family members or normal controls.

CONCLUSIONA novel missense mutation c.2590 T > C was found and it might play a significant role in the piebaldism phenotype in the family.

Child ; Humans ; Male ; Mutation, Missense ; Piebaldism ; genetics ; Proto-Oncogene Proteins c-kit ; genetics ; physiology

BACKGROUND: Tyrosinase is the critical enzyme in melanin synthesis. DOPA staining has been used as a standard assay for detecting tyrosinase activity, but it exhibits several limitations. Tyramide based tyrosinase assay (TTA) is a simple and sensitive tyrosinase detecting method. OBJECTIVE: This study aimed to compare the stainability of pigmentary disorders using TTA and DOPA staining. METHODS: The subjects were composed of hyperpigmentary disorders (n=10), hypopigmentary disorders (n=7), and alopecia areata (n=7). The colocalization study of TTA and Mitf using immunofluorescence was performed on alopecia areata. DOPA staining was performed on all tissues to compare with TTA immunohistochemistry. RESULTS: TTA positive cells were correlated with Mitf positive cells in the tissue of alopecia areata. In hyperpigmentary disoders, TTA was stronger than DOPA staining. TTA and DOPA staining didn't observe the positive cells in lesion of vitiligo and piebaldism, but both showed the positive cells in normal skin. TTA staining showed positive cells in the transitional lesion of vitiligo but, DOPA staining did not. In alopecia areata, TTA positive cells were observed, but DOPA staining did not. CONCLUSION: TTA is more sensitive than DOPA staining in pigmentary disorders for detecting tyrosinase activity.
Alopecia Areata ; Dihydroxyphenylalanine ; Fluorescent Antibody Technique ; Melanins ; Monophenol Monooxygenase ; Piebaldism ; Skin ; Vitiligo

Poliosis circumscripta describes a localized patch of white hair due to deficiency of melanin in the hair follicles. It is a feature of various conditions such as piebaldism, Vogt-Koyanagi-Harada syndrome, tuberous sclerosis, vitiligo, recent herpes zoster infection, or overlying a scalp neurofibroma. We report a rare case of poliosis circumscripta associated with halo nevus of the scalp. A 24-year-old woman presented with a 10 year history of an asymptomatic, pinkish nodule on the scalp which had overlying poliosis. On histopathological examination, dermal nevus cells were observed and the hair follicles of the depigmented patch were found to be devoid of pigment.
Female ; Hair ; Hair Follicle ; Herpes Zoster ; Humans ; Melanins ; Neurofibroma ; Nevus ; Nevus, Halo* ; Piebaldism ; Scalp* ; Tuberous Sclerosis ; Uveomeningoencephalitic Syndrome ; Vitiligo ; Young Adult

OBJECTIVETo detect the gene mutation of a family with piebaldism.

METHODSDiagnosis of a patient with piebaldism was constructed by pathology, ultrastructural examination and typical clinical-phenotype. Detection of gene mutation was carried out by PCR and DNA sequencing.

RESULTSG 2528A substitution transition in the KIT gene was found in the proband of the family with piebaldism. This mutation resulted in S850N substitution in protein product of KIT gene. No mutation was found in 100 normal individuals and other family members.

CONCLUSIONThe mutation of S850N maybe one cause of clinical phenotype of the family with piebaldism.

Adult ; Base Sequence ; China ; Female ; Genetic Predisposition to Disease ; Humans ; Male ; Mutation, Missense ; Pedigree ; Piebaldism ; genetics ; Polymerase Chain Reaction ; Proto-Oncogene Proteins c-kit ; genetics ; Sequence Analysis, DNA

OBJECTIVETo detect gene mutation in proband and his mother from a family with piebaldism.

METHODSDiagnosis of a patient with piebaldism was validated by pathology, ultrastructural examination and the typical clinical manifestation. PCR and DNA sequencing were carried out to detect gene mutation of a family with piebaldism.

RESULTSG1833A transition in the KIT gene was found in the proband of the family with piebaldism. This mutation resulted in V604I substitution in KIT gene. No mutation was found in 100 normal individuals and other family members.

CONCLUSIONThe mutation of V604I is the cause of clinical phenotype of the family with piebaldism.

Base Sequence ; Child ; DNA Mutational Analysis ; Female ; Humans ; Male ; Mutation ; Piebaldism ; genetics ; Polymerase Chain Reaction ; Proto-Oncogene Proteins c-kit ; genetics