Blood counts showed noncyclic neutropenia (neutrophil count 0.3 10 9 /L); however, this was not associated with recurrent infections. A connective tissue disease screen was negative and immunoglobulin concentrations were unremarkable. Figure 2. [journals.sagepub.com]

In font of recurrent infections, she reportedly had numerous consultations in pediatrics where the various biological assessments carried out revealed a permanent neutropenia. She was then treated with granulocyte growth factors. [scitcentral.com]

All patients with PN have significant neutropenia leading to recurrent infections, which are predominantly sinopulmonary in location. [onlinelibrary.wiley.com]

infections at variable sites (sinusitis, otitis media, facial cellulitis, adenitis, blepharitis, conjunctivitis, gastroenteritis) LABORATORY ABNORMALITIES: Neutropenia MOLECULAR BASIS: Caused by mutation in the chromosome 16 open reading frame 57 gene [findzebra.com]

Discussion and Conclusion PN is a rare autosomal recessive inherited genodermatosis, described first in Navajo Indians by Clericuzio in 1991. 1 The clinical features of PN include poikiloderma, nail abnormalities, and noncyclic neutropenia. [journals.sagepub.com]

Patients with PN have clinical overlap with Rothmund–Thomson syndrome (RTS) because of the poikilodermatous rash, nail abnormalities, palmar–plantar hyperkeratosis, and growth deficiency. [onlinelibrary.wiley.com]

Autosomal dominant Rothmund-Thomson syndrome type 1 is a subform of Rothmund-Thomson syndrome (RTS; see this term) presenting with a characteristic facial rash ( poikiloderma ) and frequently associated with short stature, sparse scalp hair, sparse or [findzebra.com]

[…] of proximal and distal upper and lower limbs; Muscle wasting; Myogenic profile on electromyography; Adiposis on MRI; Extensive fatty infiltration on biopsy; Focal lymphocytic and macrophage infiltrates on biopsy; Loss of lower-limb tendon reflexes; Lymphedema [findzebra.com]

NECK: [Head]; Scalp hair sparse or absent; [Face]; Poikiloderma, congenital; [Eyes]; Eyebrows sparse or absent; Eyelashes sparse or absent; Cataract (rare) RESPIRATORY: [Lung]; Interstitial pulmonary fibrosis; Restrictive syndrome ABDOMEN: [Liver]; Hepatomegaly [findzebra.com]

It is characterized by a distinctive poikilodermatous rash, noncyclical neutropenia, small stature, pachyonychia, and pulmonary disease (reactive airway disease and recurrent pulmonary infections). [semanticscholar.org]

INTRODUCTION Poikiloderma with Neutropenia (PN), Clericuzio‐Type (OMIM #604173) is an autosomal recessive inherited disorder characterized by poikiloderma, pachyonychia (thickened nails), severe neutropenia, recurrent sinopulmonary infections, and chronic [onlinelibrary.wiley.com]

Abstract : Three siblings from Morocco consanguineous family presented with cutaneous poikiloderma following postnatal ichthyosiform lesions, associated with papillomatous lesions, palmoplantar keratoderma, pachyonychia of toenails, fragile carious teeth [hal.archives-ouvertes.fr]

Herein, we reported the clinical presentations and laboratory investigations of PN in three siblings from Turkey.The older siblings presented with typical cutaneous poikiloderma, plantar keratoderma, pachyonychia of toenails, and recurrent upper respiratory [ijaai.tums.ac.ir]

\" Symptoms - Navajo poikiloderma Neutropenia Poikiloderma Spreading skin rash Recurring respiratory infections Recurring sinus infection Abnormal skin pigmentation Thick nails Nail infection Causes - Navajo poikiloderma Not supplied. [checkorphan.org]

Rothmund-Thomson syndrome (RTS) is a rare inherited, chromosomal instability syndrome belonging to the RecQ family of helicase disorders, and is characterized by skin rash, skeletal abnormalities, small stature, juvenile cataracts, and a significant cancer [grantome.com]

RTS is typically characterized by skin rash, sparse hair, malformed bones, abnormal clouding of the lenses of the eyes (juvenile cataracts), small stature, and other physical abnormalities. [rarediseases.org]

Thickened papillary dermis, dermal melanophages with pigmentary incontinence ( 40 magnification). [journals.sagepub.com]

One of these is present in all patients of Athabaskan descent, suggesting that c.496delA represents the PN-causative mutation in this subpopulation. (C) 2010Wiley-Liss, Inc. [discovery.dundee.ac.uk]

In both cases, the patients produced bands that differed from wild‐type controls, suggesting that missplicing of C160rf57 occurred in the patients. [onlinelibrary.wiley.com]

Annotation: Findings suggest a role for RECQL4 in the repair of DNA double-strand breaks by homologous recombination and shed new light onto RECQL4's function in human cells.. Source: GeneRIF: 9401. [uniprot.org]

[…] pair mutation in all Athabascan patients consistent with a founder effect 46 Athabascan SCID Incidence Overall SCID worldwide incidence 1/100,000 Initially, iIncidence in Navajo felt to be 1/10,000 births (Jones et al in 1991 Data from 1985 to present suggests [slideplayer.com]

Saccharomyces cerevisiae strains in which the homolog of the C16orf57 gene, which they call USB1 (for U 6 Biogenesis 1)was inducible; cells without Usp1p had a growth defect which was suppressed by overexpression of either wild-type Usb1p or U6-snRNA, suggesting [bloodjournal.org]