Database : MEDLINE
Search on : Piebaldism [Words]
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[PMID]: 29400299
[Au] Autor:Schepis C; Failla P; Siragusa M; Chiavetta V; Ruggeri G; Calì F
[Ad] Address:Oasi Institute for Research on Mental Retardation and Brain Aging(IRCCS) - Via Conte Ruggero, 73 - 94018 Troina (En), Italy.
[Ti] Title:An interesting case of Piebaldism with cafè-au-lait macules and freckling: the use of targeted next-generation sequencing for molecular diagnosis.
[So] Source:Eur J Dermatol;28(1):119-120, 2018 Feb 01.
[Is] ISSN:1952-4013
[Cp] Country of publication:France
[La] Language:eng
[Pt] Publication type:JOURNAL ARTICLE
[Em] Entry month:1802
[Cu] Class update date: 180309
[Lr] Last revision date:180309
[St] Status:In-Data-Review
[do] DOI:10.1684/ejd.2017.3186

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[PMID]: 28979623
[Au] Autor:Debbarh FZ; Mernissi FZ
[Ad] Address:Service de Dermatologie, CHU Hassan II, Fès, Maroc.
[Ti] Title:Piebaldisme: une génodermatose rare. [Piebaldisme: a rare genodermatosis].
[So] Source:Pan Afr Med J;27:221, 2017.
[Is] ISSN:1937-8688
[Cp] Country of publication:Uganda
[La] Language:fre
[Ab] Abstract:Piebaldism is a rare autosomal dominant genodermatosis. It is due to congenital absence of melanocytes in the affected areas. We report a case. A 5 year old girl born to consanguineous parents and with similar cases in her mother's; she presented since birth achromic lesions on the legs with a steady evolution. clinical examination showed confluent achromic macules and poliosis (A) with no contrast enhancement under Wood lamp and several coffee-with-milk colored spots on the trunk and thighs(B). The diagnosis of piebaldism was made. Piebaldism is a rare genodermatosis. Its incidence is estimated at less than 1/20000 newborns. It is characterized by the congenital absence of melanocytes in the areas affected by mutation of the c-kit gene and by symmetrical achromic macules appeared at birth with a steady and persistent evolution. A white lock of hair on the forehead could be seen in 80% of cases The differential diagnosis includes vitiligo, albinism and Waardenburg syndrome. Associations have been described with neurofibromatosis type I. However, isolated coffee-with-milk colored spots can be observed; as the case of our patient. The treatment is based on split-thickness skin graft. Piebaldism is a rare genodermatosis. This study aims to discuss its clinical aspects and differential diagnoses.
[Mh] MeSH terms primary: Melanocytes/pathology
Piebaldism/diagnosis
Proto-Oncogene Proteins c-kit/genetics
[Mh] MeSH terms secundary: Child, Preschool
Diagnosis, Differential
Female
Humans
Mutation
Piebaldism/genetics
Piebaldism/pathology
[Pt] Publication type:CASE REPORTS; JOURNAL ARTICLE
[Nm] Name of substance:EC 2.7.10.1 (Proto-Oncogene Proteins c-kit)
[Em] Entry month:1710
[Cu] Class update date: 171023
[Lr] Last revision date:171023
[Js] Journal subset:IM
[Da] Date of entry for processing:171006
[St] Status:MEDLINE
[do] DOI:10.11604/pamj.2017.27.221.4961

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[PMID]: 28831430
[Au] Autor:Finch J; Abrams S; Finch A
[Ad] Address:Department of Dermatology, University of Connecticut School of Medicine, Farmington, CT.
[Ti] Title:Analogs of human genetic skin disease in domesticated animals.
[So] Source:Int J Womens Dermatol;3(3):170-175, 2017 Sep.
[Is] ISSN:2352-6475
[Cp] Country of publication:Netherlands
[La] Language:eng
[Ab] Abstract:Genetic skin diseases encompass a vast, complex, and ever expanding field. Recognition of the features of these diseases is important to ascertain a correct diagnosis, initiate treatment, consider genetic counseling, and refer patients to specialists when the disease may impact other areas. Because genodermatoses may present with a vast array of features, it can be bewildering to memorize them. This manuscript will explain and depict some genetic skin diseases that occur in both humans and domestic animals and offer a connection and memorization aid for physicians. In addition, we will explore how animal diseases serve as a model to uncover the mechanisms of human disease. The genetic skin diseases we will review are pigmentary mosaicism, piebaldism, albinism, Griscelli syndrome, ectodermal dysplasias, Waardenburg syndrome, and mucinosis in both humans and domesticated animals.
[Pt] Publication type:JOURNAL ARTICLE; REVIEW
[Em] Entry month:1708
[Cu] Class update date: 170827
[Lr] Last revision date:170827
[St] Status:PubMed-not-MEDLINE
[do] DOI:10.1016/j.ijwd.2017.01.003

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[PMID]: 28705289
[Au] Autor:Kansal NK; Agarwal S
[Ad] Address:Department of Dermatology and Venereology, All India Institute of Medical Sciences, Rishikesh 249201, Uttarakhand, India; kansalnaveen@gmail.com.
[Ti] Title:Association of Piebaldism with Café-au-Lait Macules.
[So] Source:Skinmed;15(3):223-225, 2017.
[Is] ISSN:1540-9740
[Cp] Country of publication:United States
[La] Language:eng
[Ab] Abstract:A 45-day-old infant was brought by his parents to the dermatology outpatient department with chief complaints of asymptomatic, depigmented lesions that had been present on his skin since birth. On mucocutaneous examination, large rhomboid-shaped depigmented macules were noted on the abdomen and lower extremities bilaterally (Figure 1). A depigmented macule was present on the forehead, with white hair (leukotrichia; a "developing forelock") (Figure 2). Three hyperpigmented lesions (café-au-lait macules [CALMs]) were also noted on the chest (Figure 1a). There was no history of consanguinity, and the family history was negative. The infant was otherwise normal for his age. A diagnosis of "piebaldism with CALMs" was made, and his parents were counseled about the disease and its progression, and possible treatment options as the child grew. They were also informed about a currently unquantifiable risk of future development of Legius syndrome or neurofibromatosis type 1 (NF1), and were counseled for regular follow-up.
[Pt] Publication type:JOURNAL ARTICLE
[Em] Entry month:1707
[Cu] Class update date: 170714
[Lr] Last revision date:170714
[St] Status:In-Data-Review

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[PMID]: 28403523
[Au] Autor:Lommerts JE; Meesters AA; Komen L; Bekkenk MW; de Rie MA; Luiten RM; Wolkerstorfer A
[Ad] Address:Netherlands Institute for Pigment Disorders, Department of Dermatology, Academic Medical Centre, University of Amsterdam, Amsterdam, the Netherlands.
[Ti] Title:Autologous cell suspension grafting in segmental vitiligo and piebaldism: a randomized controlled trial comparing full surface and fractional CO laser recipient-site preparations.
[So] Source:Br J Dermatol;, 2017 Apr 12.
[Is] ISSN:1365-2133
[Cp] Country of publication:England
[La] Language:eng
[Ab] Abstract:BACKGROUND: Autologous noncultured cell suspension transplantation is an effective treatment for repigmentation in segmental vitiligo and piebaldism. Full surface laser ablation is frequently used to prepare the recipient site before cell suspension transplantation, even though the optimal laser settings and ablation depth are unknown. OBJECTIVES: To assess the efficacy and safety of less invasive recipient-site preparations. METHODS: In a randomized, observer-blinded, controlled trial we compared different recipient-site preparations before cell suspension transplantation in segmental vitiligo and piebaldism. In each patient, we randomly allocated three CO laser recipient-site preparations (209 and 144 µm full surface, and fractional) and a control (no treatment) to four depigmentations. After 6 months we assessed repigmentation and side-effects. RESULTS: We included 10 patients with vitiligo (n = 3) and piebaldism (n = 7). Compared with the control site, we found more repigmentation after full surface ablation at 209 µm (median 68·7%, P = 0·01) and 144 µm (median 58·3%, P = 0·007), but no repigmentation after fractional ablation (median 0·0%, P = 0·14). CONCLUSIONS: Superficial full surface ablation with a depth of 144 µm is an effective recipient-site preparation before cell suspension transplantation, while fractional CO laser is not.
[Pt] Publication type:JOURNAL ARTICLE
[Em] Entry month:1704
[Cu] Class update date: 171023
[Lr] Last revision date:171023
[St] Status:Publisher
[do] DOI:10.1111/bjd.15569

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[PMID]: 28317523
[Au] Autor:Goh BK; Pandya AG
[Ad] Address:Skin Physicians Pte Ltd, 3 Mount Elizabeth, Suite 11-08 Mount Elizabeth Medical Centre, Singapore 228510, Singapore.
[Ti] Title:Presentations, Signs of Activity, and Differential Diagnosis of Vitiligo.
[So] Source:Dermatol Clin;35(2):135-144, 2017 Apr.
[Is] ISSN:1558-0520
[Cp] Country of publication:United States
[La] Language:eng
[Ab] Abstract:Vitiligo has a variety of presentations, including focal, acrofacial, segmental, and generalized forms. Thorough knowledge of these presentations is important to make the correct diagnosis. Signs of activity are important to recognize so that treatment is optimized. Clinical findings of confettilike depigmentation, trichrome and inflammatory vitiligo, and the Koebner phenomenon should alert the clinician that a patient's disease is likely to worsen. These patients may require systemic treatment to stabilize their disease. Many other skin disorders present with hypopigmentation or depigmentation and must be distinguished to determine the right diagnosis, advise the patient on prognosis, and prescribe the correct treatment.
[Mh] MeSH terms primary: Hypopigmentation/diagnosis
Vitiligo/diagnosis
[Mh] MeSH terms secundary: Diagnosis, Differential
Graft vs Host Disease/complications
Humans
Hypopigmentation/etiology
Leprosy, Tuberculoid/complications
Lichen Sclerosus et Atrophicus/complications
Lupus Erythematosus, Discoid/complications
Piebaldism/diagnosis
Pityriasis/complications
Tinea Versicolor/complications
[Pt] Publication type:JOURNAL ARTICLE; REVIEW
[Em] Entry month:1710
[Cu] Class update date: 171011
[Lr] Last revision date:171011
[Js] Journal subset:IM
[Da] Date of entry for processing:170321
[St] Status:MEDLINE

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[PMID]: 28170433
[Au] Autor:Eroh GD; Clayton FC; Florell SR; Cassidy PB; Chirife A; Marón CF; Valenzuela LO; Campbell MS; Seger J; Rowntree VJ; Leachman SA
[Ad] Address:Huntsman Cancer Institute, Salt Lake City, Utah, United States of America.
[Ti] Title:Cellular and ultrastructural characterization of the grey-morph phenotype in southern right whales (Eubalaena australis).
[So] Source:PLoS One;12(2):e0171449, 2017.
[Is] ISSN:1932-6203
[Cp] Country of publication:United States
[La] Language:eng
[Ab] Abstract:Southern right whales (SRWs, Eubalena australis) are polymorphic for an X-linked pigmentation pattern known as grey morphism. Most SRWs have completely black skin with white patches on their bellies and occasionally on their backs; these patches remain white as the whale ages. Grey morphs (previously referred to as partial albinos) appear mostly white at birth, with a splattering of rounded black marks; but as the whales age, the white skin gradually changes to a brownish grey color. The cellular and developmental bases of grey morphism are not understood. Here we describe cellular and ultrastructural features of grey-morph skin in relation to that of normal, wild-type skin. Melanocytes were identified histologically and counted, and melanosomes were measured using transmission electron microscopy. Grey-morph skin had fewer melanocytes when compared to wild-type skin, suggesting reduced melanocyte survival, migration, or proliferation in these whales. Grey-morph melanocytes had smaller melanosomes relative to wild-type skin, normal transport of melanosomes to surrounding keratinocytes, and normal localization of melanin granules above the keratinocyte nuclei. These findings indicate that SRW grey-morph pigmentation patterns are caused by reduced numbers of melanocytes in the skin, as well as by reduced amounts of melanin production and/or reduced sizes of mature melanosomes. Grey morphism is distinct from piebaldism and albinism found in other species, which are genetic pigmentation conditions resulting from the local absence of melanocytes, or the inability to synthesize melanin, respectively.
[Mh] MeSH terms primary: Phenotype
Whales/anatomy & histology
[Mh] MeSH terms secundary: Animals
Cell Count
Female
Male
Melanocytes/cytology
Skin/cytology
Skin/ultrastructure
[Pt] Publication type:JOURNAL ARTICLE
[Em] Entry month:1708
[Cu] Class update date: 170825
[Lr] Last revision date:170825
[Js] Journal subset:IM
[Da] Date of entry for processing:170208
[St] Status:MEDLINE
[do] DOI:10.1371/journal.pone.0171449

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[PMID]: 27399941
[Au] Autor:Maderal AD; Kirsner RS
[Ad] Address:Department of Dermatology and Cutaneous Surgery, University of Miami Miller School of Medicine, Miami, Florida.
[Ti] Title:Use of Epidermal Grafting for Treatment of Depigmented Skin in Piebaldism.
[So] Source:Dermatol Surg;43(1):159-160, 2017 Jan.
[Is] ISSN:1524-4725
[Cp] Country of publication:United States
[La] Language:eng
[Mh] MeSH terms primary: Epidermis/transplantation
Piebaldism/surgery
Skin Transplantation/methods
[Mh] MeSH terms secundary: Adolescent
Female
Humans
[Pt] Publication type:CASE REPORTS; LETTER
[Em] Entry month:1704
[Cu] Class update date: 170817
[Lr] Last revision date:170817
[Js] Journal subset:IM
[Da] Date of entry for processing:160712
[St] Status:MEDLINE
[do] DOI:10.1097/DSS.0000000000000833

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[PMID]: 27309418
[Au] Autor:Komen L; Vrijman C; Prinsen CA; van der Veen JP; Luiten RM; Wolkerstorfer A
[Ad] Address:a Department of Dermatology and The Netherlands Institute for Pigment Disorders (SNIP) , Academic Medical Center, University of Amsterdam , Amsterdam , The Netherlands.
[Ti] Title:Optimising size and depth of punch grafts in autologous transplantation of vitiligo and piebaldism: a randomised controlled trial.
[So] Source:J Dermatolog Treat;28(1):86-91, 2017 Feb.
[Is] ISSN:1471-1753
[Cp] Country of publication:England
[La] Language:eng
[Ab] Abstract:BACKGROUND: To date, autologous punch grafting appears to be the easiest and least expensive surgical technique for stable vitiligo and piebaldism. Punch grafting is available worldwide, with no need for specialised instruments. However, no reliable data on efficacy and safety of different punch depths and punch sizes are available. OBJECTIVE/METHODS: To compare the efficacy and safety of different punch depths and punch sizes in autologous punch grafting, a randomised controlled trial was performed in 33 patients with vitiligo or piebaldism. In each patient, four depigmented regions were allocated to: 1.5 mm deep grafts, 1.5 mm superficial grafts, 1.0 mm deep grafts, and 1.0 mm superficial grafts. Primary outcome was the total pigmented surface area. Secondary outcomes were Patients' Global Assessment (PGA) and side effects. RESULTS: Six months after grafting, 1.5 mm grafts showed a significantly larger pigmented surface area compared to 1.0-mm grafts (p < 0.001), though more side effects as well. No significant differences in the total pigmented surface between different punch depths were found. Deep grafts showed more erythema compared to superficial grafts. CONCLUSION: We recommend 1.5 mm superficial grafts in autologous punch grafting for trunk and proximal extremities in patients with stable vitiligo and piebaldism.
[Mh] MeSH terms primary: Piebaldism/surgery
Skin Transplantation/methods
Vitiligo/surgery
[Mh] MeSH terms secundary: Adolescent
Adult
Extremities
Female
Follow-Up Studies
Humans
Male
Middle Aged
Torso
Transplantation, Autologous/methods
Treatment Outcome
Young Adult
[Pt] Publication type:COMPARATIVE STUDY; JOURNAL ARTICLE; RANDOMIZED CONTROLLED TRIAL
[Em] Entry month:1704
[Cu] Class update date: 170404
[Lr] Last revision date:170404
[Js] Journal subset:IM
[Da] Date of entry for processing:160617
[St] Status:MEDLINE
[do] DOI:10.1080/09546634.2016.1179251

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[PMID]: 28292117
[Au] Autor:El Kouarty H; Dakhama BS
[Ad] Address:Service des Urgences Médicales Pédiatriques, Hôpital d'Enfants Rabat, Faculté de Médecine et de Pharmacie, Université Mohammed V, Rabat, Maroc.
[Ti] Title:Piebaldisme: une anomalie pigmentaire à reconnaitre: à propos d'un cas et revue de la littérature. [Piebaldism: a pigmentary anomaly to recognize: about a case and review of the literature].
[So] Source:Pan Afr Med J;25:155, 2016.
[Is] ISSN:1937-8688
[Cp] Country of publication:Uganda
[La] Language:fre
[Ab] Abstract:Piebaldism is a rare autosomal dominant disorder characterized by an abnormal congenital skin pigmentation causing hypopigmented areas. It is due to an abnormal melanocytes development. It usually affects only the skin, but it may be associated with other anomalies or confused with other differential diagnoses. We report the case of a 5-year old boy with piebaldism having a family history of dermatologic phenotype without other alterations. We here highlight the pathogenesis, clinical manifestations, differential diagnosis as well as the management techniques and new therapeutic trials.
[Mh] MeSH terms primary: Melanocytes/pathology
Piebaldism/diagnosis
Skin/pathology
[Mh] MeSH terms secundary: Child, Preschool
Diagnosis, Differential
Humans
Male
Piebaldism/pathology
[Pt] Publication type:CASE REPORTS; JOURNAL ARTICLE; REVIEW
[Em] Entry month:1703
[Cu] Class update date: 170330
[Lr] Last revision date:170330
[Js] Journal subset:IM
[Da] Date of entry for processing:170316
[St] Status:MEDLINE
[do] DOI:10.11604/pamj.2016.25.155.10499


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