No abstract available.
Neurofibromatosis 1* ; Piebaldism*

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

Piebaldism is an uncommon autosomal dominant genetic disorder. It is characterized by amelanotic macules or patches, usually containing some hyperpigmented or normopigmented macules, of the central portion of the forehead, the chin, and the ventral aspect of the trunk and the limbs. A 10 year-old female patient had depigmented lesions on the abdomen and both legs, discovered one month after her birth. On the history taking, she had family history of four generations. We report a case of piebaldism showing typical autosomal dominant pattern.
Abdomen ; Child ; Chin ; Extremities ; Family Characteristics* ; Female ; Forehead ; Humans ; Leg ; Parturition ; Piebaldism*

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

Woolf syndrome is characterized by piebaldism and congenital deafness. Facial features of Waardenburg syndrome are absent and the parents and siblings are unaffected. We report herein a case of Woolf syndrome in 21-year-old male patient who has deafness of the righr ear and hypopigmented patches of whole body since birth. This pigmentary disorder may associate with other systemic abnormalities, we suggest this syndrome belongs to the spectrum of developmental abnormalities.
Deafness* ; Ear ; Humans ; Male ; Parents ; Parturition ; Piebaldism* ; Siblings ; Waardenburg Syndrome ; Young Adult

Woolf syndrome is characterized by piebaldism and congenital deafness. Facial features of Waardenburg syndrome are absent and the parents and siblings are unaffected. We report herein a case of Woolf syndrome in 21-year-old male patient who has deafness of the righr ear and hypopigmented patches of whole body since birth. This pigmentary disorder may associate with other systemic abnormalities, we suggest this syndrome belongs to the spectrum of developmental abnormalities.
Deafness* ; Ear ; Humans ; Male ; Parents ; Parturition ; Piebaldism* ; Siblings ; Waardenburg Syndrome ; 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.

BACKGROUND: Piebaldism is an uncommon congenital disease inherited in autosomal dominant pattern. It is characterized by stable leukoderma with white forelock and vitiligo-like amelanotic macules usually containing a few normally pigmented or hyperpigmented macules. There have been a few case reports, but no clinical study in Koreans. OBJECTIVE: The purpose of this study was to investigate characteristic clinical features in Korean patients with piebaldism different from that of Caucasian. METHODS: We evaluated 11 patients with piebaldism using retrospective method and telephone survey in regard to sex, family history, clinical features such as distribution of hypopigmented patches, white forelock, normo- or hyperpismented macules within hypopigmented patches, hyperpigmented macules in normal skin, associated systemic disease, and effect of treatment. RESULTS: Ten patients showed autosomal dominant features but one occurred sporadically. The ratio of male to female was 3:8, and only 6 patients had white forelock. The most common site of hypopigmented patches was the lower leg(in all patients), followed by abdomen, left foot and left buttock, and chest. All patients had normo- or hyperpismented macules in hypopigmented patches, and 4 had hyperpigmented lesion in normal skin. Down's syndrome was associated in one case. We treated 3 cases with epidermal graft. CONCLUSION: Most cases were consistent with other western reports. But our patients revealed female predominance(3:8), lower incidence of white forelock(about 55%), frequent lower leg involvement(100%), and uncommon distribution of skin lesion such as foot and buttock. These differences reflected characteristic clinical features of piebaldism in Koreans different from those of Caucasians.
Abdomen ; Buttocks ; Down Syndrome ; Female ; Foot ; Humans ; Incidence ; Leg ; Male ; Piebaldism* ; Retrospective Studies ; Skin ; Telephone ; Thorax ; Transplants

Piebaldism is a rare, autosomal dominant inherited disorder, characterized by inborn hypopigmented skin and hair. It is characterized by stable leukoderma with white forelock and vitiligo like amelanotic macules usually containing hyperpigmented macules at the periphery. As the leukodermic lesions in piebaldism are unresponsive to any form of topical or systemic medical treatment, several methods for autologous transplantation of melanocytes and epidermal transplantation methods have been developed and there are no specific treatment methods for hyperpigmented patch in piebaldism. A 12-year-old female had piebaldism from birth. Suction blister epidermal graft was tried at hypopigmented patches on the posterior aspects of both lower legs and the Q-switched Alexandrite laser was used at the site of the hyperpigmented patches. Combination therapy with suction blister epidermal graft and a Q-switched Alexandrite laser on piebaldism may be effective method.
Autografts ; Blister* ; Child ; Female ; Hair ; Humans ; Lasers, Solid-State* ; Leg ; Melanocytes ; Parturition ; Piebaldism* ; Skin ; Suction* ; Transplantation, Autologous ; Transplants* ; Vitiligo

Piebaldism is a rare autosomal dominant genetic disorder characterized by localized and stationary hypomelanosis of skin and hair secondary to an absence of melanocytes in the involved skin. Depigmentation in piebalrlism shows a characteristic distribution that involves the forehead, ventral chest, abdomen, and extremities. Cases of piebaldism have been reported in association with extracutaneous abnormalities such as heterochromia irides, osteopathia striata, deafness, mental retardation, and Hirschsprung's disease. We report a case of piebaldism associated with strabismus and torticollis in a 6-year-old female patient. Piebaldism associated with strabismus and torticollis has not been reported in any previous literature.
Abdomen ; Child ; Deafness ; Extremities ; Female ; Forehead ; Hair ; Hirschsprung Disease ; Humans ; Hypopigmentation ; Intellectual Disability ; Melanocytes ; Piebaldism* ; Skin ; Strabismus* ; Thorax ; Torticollis*