title: Familial progressive hypo- and hyperpigmentation: a variant case.
abstract: Familial progressive hyper- and hypopigmentation (FPHH) is characterized by diffuse hyperpigmentation with variable intensity. Cafe'-au-lait macules and larger hypopigmented ash-leaf macules are also present. Herein, we reported a variant case of FPHH. The patient was a two-year-old Chinese girl showing diffuse hyper- and hypopigmented lesions, longitudinal melanonychia in both thumbs, and infantile seizures, without any lentigines.
authors.affiliation: The First Affiliated Hospital of Nanjing Medical University, Nanjing, China.
authors.forename: Ru-zhi
authors.initials: RZ
authors.lastname: Zhang
authors.forename: Wen-yuan
authors.initials: WY
authors.lastname: Zhu
mesh_terms: D019080:Cafe-au-Lait Spots / Q000235:genetics / Q000473:pathology / Q000503:physiopathology; D002675:Child, Preschool; D018450:Disease Progression; D005260:Female; D014644:Genetic Variation; D006801:Humans; D017495:Hyperpigmentation / Q000235:genetics* / Q000473:pathology / Q000503:physiopathology*; D017496:Hypopigmentation / Q000235:genetics* / Q000473:pathology / Q000503:physiopathology*; D007223:Infant; D010375:Pedigree; D012867:Skin / Q000473:pathology*; D013036:Spasms, Infantile / Q000235:genetics