Piebaldism Associated with Café-au-lait Macules and Intertriginous Freckling: A Case Report and Review of the Literature

A novel missense KIT mutation causing piebaldism in one Chinese family associated with café-au-lait macules and intertriginous freckling

Piebaldism is a rare autosomal dominant genodermatosis, manifesting as congenital and stable depigmentation of the skin and white forelock. It has been found to be associated with mutations in the KIT or SLUG genes. We report a Chinese piebaldism family including a 28-year-old woman and her 3-year-old son with characteristics of white patches and forelock associated with numerous brown macules ...

Café-au-lait macules and intertriginous freckling in piebaldism: clinical overlap with neurofibromatosis type 1 and Legius syndrome.

Piebaldism is an autosomal dominant disorder characterized by congenital hypopigmented patches of skin and hair and has been found to be associated with mutations in the KIT or SLUG genes. Café-au-lait macules (CALM) may occasionally be seen in piebaldism. There are four reports describing six patients who were said to have both piebaldism and neurofibromatosis type 1 (NF1) due to the presence ...

A child with axillary freckling and café au lait spots.

Molecular screening strategies for NF1-like syndromes with café-au-lait macules

Multiple café-au-lait macules (CALM) are usually associated with neurofibromatosis type 1 (NF1), one of the most common hereditary disorders. However, a group of genetic disorders presenting with CALM have mutations that are involved in human skin pigmentation regulation signaling pathways, including KIT ligand/KIT proto‑oncogene receptor tyrosine kinase and Ras/mitogen‑activated protein kinase...

Dentigerous Cyst Associated with a Deciduous Tooth: Report of a Case and Review of the Literature

Introdouction: Dentigerous cyst is a benign developmental lesion of the jaw. It is most commonly occurs during the second and third decades of life and has rarely been reported in association with a deciduous tooth. We report a case of two-year old girl who presented with an unerupted central incisor. According to the radiographic findings, she was diagnosed with a dentigerous cyst and...