title: Poikiloderma with neutropenia: report of three cases including one with calcinosis cutis.
abstract: Poikiloderma with neutropenia (PN), Clericuzio type (OMIM #604173) is a new, unique genodermatosis first described by Clericuzio et al (Am J Med Genet A, 2011, 155, 337) in Navajo Indian population. This disease is characterized by poikiloderma that usually develops in the first year of life and is associated with nail abnormality, palmoplantar hyperkeratosis, chronic neutropenia, and recurrent infections. The rash typically starts from the extremities and spreads centripetally to involve the trunk, face, and ears. Recently, a homozygous mutation in the C16orf57 gene on chromosome 16q13 was identified as a strong candidate as the gene responsible for PN. We report three cases of PN whose clinical presentations, laboratory investigations, and C16orf57 mutation support the diagnosis of PN. One child has developed multiple painful calcinosis cutis lesions. Early-onset poikiloderma should prompt a complete blood count as a screening test.
authors.affiliation: Department of Pediatrics, Faculty of Medicine Siriraj Hospital, Mahidol University, Bangkok, Thailand.
authors.forename: Rattanavalai
authors.initials: R
authors.lastname: Chantorn
authors.forename: Tor
authors.initials: T
authors.lastname: Shwayder
mesh_terms: D002114:Calcinosis / Q000175:diagnosis / Q000208:ethnology / Q000235:genetics; D002648:Child; D002675:Child, Preschool; D004817:Epidermis / Q000473:pathology; D005260:Female; D006801:Humans; D007198:Indians, North American / Q000235:genetics; D008297:Male; D009503:Neutropenia / Q000175:diagnosis* / Q000208:ethnology / Q000235:genetics*; D010727:Phosphoric Diester Hydrolases / Q000235:genetics*; D011038:Rothmund-Thomson Syndrome / Q000175:diagnosis* / Q000208:ethnology / Q000235:genetics*
chemical_list: D010727:Phosphoric Diester Hydrolases; C576020:USB1 protein, human