Cargando…

Piebaldism with multiple café-au-lait–like hyperpigmented macules and inguinal freckling caused by a novel KIT mutation

Detalles Bibliográficos
Autores principales:	Nagaputra, Jerry C., Koh, Mark J.A., Brett, Maggie, Lim, Eileen C.P., Lim, Hwee-Woon, Tan, Ene-Choo
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	Elsevier 2018
Materias:	Article
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5911795/ https://www.ncbi.nlm.nih.gov/pubmed/29693058 http://dx.doi.org/10.1016/j.jdcr.2017.10.005

Ejemplares similares

Piebaldism Associated with Café-au-lait Macules and Intertriginous Freckling: A Case Report and Review of the Literature
por: Akarsu, Sevgi, et al.
Publicado: (2019)

A novel missense KIT mutation causing piebaldism in one Chinese family associated with café-au-lait macules and intertriginous freckling
por: Jia, Wei-Xue, et al.
Publicado: (2015)

KIT Gene Mutation Causing Piebaldism Associated with Multiple Café Au-Lait Like Macules and Freckling: Delineating a Cause of this Coexistence
por: Hegde, Shibhani S., et al.
Publicado: (2022)

Piebaldism with café‐au‐lait macules resulting from a novel mutation of KIT gene in a three‐generation Chinese family
por: Li, Xiaorong, et al.
Publicado: (2023)

Plexiform Neurofibroma Overlying Giant Café-au-lait Macule
por: Choudhary, Sanjiv V., et al.
Publicado: (2017)

An approach to café au lait macules in primary care setting
por: Almuhaidib, Seereen R., et al.
Publicado: (2021)

Bardet–Biedl Syndrome with Café-au-Lait Macule: Association or Coincidence?
por: Tomar, Suyash S., et al.
Publicado: (2020)

Molecular screening strategies for NF1-like syndromes with café-au-lait macules
por: Zhang, Jia, et al.
Publicado: (2016)

Laser treatment for Cafe-au-lait Macules: a systematic review and meta-analysis
por: Guo, Zi-Zhen, et al.
Publicado: (2023)

Type VIII - Ehlers Danlos Syndrome with café-au-lait macules: A Rare Variant
por: Bhat, Ramesh M, et al.
Publicado: (2014)

Diagnostic and pathogenetic role of café-au-lait macules in nevoid basal cell carcinoma syndrome
por: Ponti, Giovanni, et al.
Publicado: (2012)

Genome‐wide association study of café‐au‐lait macule number in neurofibromatosis type 1
por: Sung, Heejong, et al.
Publicado: (2020)

Case report: Gene mutation analysis and skin imaging of isolated café-au-lait macules
por: Zhong, Zhenyu, et al.
Publicado: (2023)

Hyperpigmented macules in the oral mucosa and melanonychia
por: Killpack, Luke, et al.
Publicado: (2018)

Development of Café-Au-Lait-Macule Lesions in a Patient After Dupilumab Therapy for Atopic Dermatitis
por: Hasanain, Afnan, et al.
Publicado: (2023)

Retinal café-au-lait macules: A rare retinal finding in a patient with neurofibromatosis type 1
por: Venkatesh, Ramesh, et al.
Publicado: (2019)

Characteristics of Café-au-lait Macules and their Association with the Neurofibromatosis type I Genotype in a Cohort of Greek Children
por: NASI, Lamprini, et al.
Publicado: (2023)

Independent NF1 mutations underlie café-au-lait macule development in a woman with segmental NF1
por: Freret, Morgan E., et al.
Publicado: (2018)

Multiple Hyperpigmented Macules on Labial Mucosa with Longitudinal Melanonychia
por: García-Lozano, José Alberto, et al.
Publicado: (2019)

Generalized reticulated hyperpigmented patches interspersed with hypopigmented macules
por: Alhameedy, Meshal Mohammad
Publicado: (2021)

Oral hyperpigmented macules observed during endoscopy intubation
por: Kim, Da Mi, et al.
Publicado: (2022)

Genetic Modifiers of Neurofibromatosis Type 1-Associated Café-au-Lait Macule Count Identified Using Multi-platform Analysis
por: Pemov, Alexander, et al.
Publicado: (2014)

Sudden Appearance of Pin-point Hyperpigmented Macules: Dermoscopy Saves the Day
por: Ganguly, Satyaki, et al.
Publicado: (2016)

Treatment with the Pinhole Technique Using Erbium-Doped Yttrium Aluminium Garnet Laser for a Café au Lait Macule and Carbon Dioxide Laser for Facial Telangiectasia
por: Chung, Bo Young, et al.
Publicado: (2014)

Prevalence of Café-au-Lait Spots in children with solid tumors
por: dos Santos, Anna Claudia Evangelista, et al.
Publicado: (2016)

Novel POFUT1 mutation in patient with flexural and acral hyperpigmented reticulated macules presenting in adolescence
por: Kiuru, Maija, et al.
Publicado: (2020)

Freckles
Publicado: (1885)

Freckles
Publicado: (1878)

Freckles
Publicado: (1883)

Large café-au-lait spots on a 5-year-old boy
por: McLarney, Brett D., et al.
Publicado: (2022)

A novel KIT mutation in a family with expanded syndrome of piebaldism
por: Hamadah, Issam, et al.
Publicado: (2019)

Novel pathogenic variants in KIT gene in three Chinese piebaldism patients
por: Wang, Chen, et al.
Publicado: (2022)

Isodicentric Chromosome 15 Syndrome in a Korean Patient With Café-au-lait Spots
por: Rim, John Hoon, et al.
Publicado: (2015)

Craniofacial findings in syndromes associated with cafe-au-lait spots: a literature review
por: Carvalho, Adriana Amaral, et al.
Publicado: (2023)

Piebald Camels
por: Volpato, Gabriele, et al.
Publicado: (2017)

Novel KIT Missense Mutation P665S in a Chinese Piebaldism Family
por: Zheng, Yan, et al.
Publicado: (2017)

Eczematous Dermatitis Occurring on a Café-au-Lait Spot Long after Laser Radiation
por: Mihara, Motoyuki
Publicado: (2013)

Successful surgical management of bilateral epiretinal membrane in a child with only café-au-lait spots
por: Philip, Swetha Sara, et al.
Publicado: (2017)

Acral freckling with palmar pits
por: Adya, Keshavmurthy A., et al.
Publicado: (2015)

Early presentation of neurofibromatosis type I patient with clitoromegaly and café au lait spots: A case report
por: Khushaim, Ayman, et al.
Publicado: (2021)

Cannot write session to /tmp/vufind_sessions/sess_deloage51sc5ii94irrfrm99q1