clericuzio-type poikiloderma with neutropenia (pn) is characterized by poikiloderma, non-cyclic  neutropenia,  recurrent  sinopulmonary  infections,  pachyonychia,  and  palmo- plantar hyperkeratosis. mutations in the c16orf57 gene, which is located on chromosome 16q13, have been identified as the cause of pn. pn was first described by clericuzio in navajo indians. herein, we reported the clini...

Dyskeratosis congenita (DC) is an inherited poikiloderma which in addition to the skin abnormalities is typically associated with nail dystrophy, leucoplakia, bone marrow failure, cancer predisposition and other features. Approximately 50% of DC patients remain genetically uncharacterized. All the DC genes identified to date are important in telomere maintenance. To determine the genetic basis ...

Clericuzio-type poikiloderma with neutropenia (PN) is characterized by poikiloderma, non-cyclic neutropenia, recurrent sinopulmonary infections, pachyonychia, and palmo-plantar hyperkeratosis. Mutations in the C16orf57 gene, which is located on chromosome 16q13, have been identified as the cause of PN. PN was first described by Clericuzio in Navajo Indians. Herein, we reported the clinical pres...

Poikiloderma with neutropenia (PN), previously referred to as Navajo poikiloderma (MIM #604173) is a rare, autosomal recessive disorder first described by Clericuzio et al. [1991] in the Navajo American Indian population [Erickson, 1999]. It is characterized by a distinctive poikilodermatous rash, noncyclical neutropenia, small stature, pachyonychia, and pulmonary disease (reactive airway disea...

Next-generation sequencing is a straightforward tool for the identification of disease genes in extended genomic regions. Autozygosity mapping was performed on a five-generation inbred Italian family with three siblings affected with Clericuzio-type poikiloderma with neutropenia (PN [MIM %604173]), a rare autosomal-recessive genodermatosis characterised by poikiloderma, pachyonychia, and chroni...

Poikiloderma with Neutropenia (PN) is an autosomal recessive genodermatosis characterized by early-onset poikiloderma, pachyonychia, hyperkeratosis, bone anomalies and neutropenia, predisposing to myelodysplasia. The causative C16orf57/USB1 gene encodes a conserved phosphodiesterase that regulates the stability of spliceosomal U6-RNA. The involvement of USB1 in splicing has not yet allowed to u...

Kindler syndrome is a rare autosomal recessive disorder associated with skin fragility. It is characterized by blistering in infancy, photosensitivity and progressive poikiloderma. The syndrome involves the skin and mucous membrane with radiological changes. The genetic defect has been identified on the short arm of chromosome 20. This report describes an 18-year-old patient with classical feat...