Presentation
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]
Hilcenko et al further found that USB1 was capable of degrading oligo A tracts and showed that in PN patient cells A residues were present in the 3′ U6 tails. [bloodjournal.org]
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]
Presentation on theme: "Heritable Illnesses of the Navajo: Fallout of the American Indian Wars of the 19th Century. [slideplayer.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]
Entire Body System
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Recurrent Infection
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]
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Nail Abnormality
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]
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Short Stature
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]
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Lymphedema
[…] 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]
Liver, Gall & Pancreas
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Hepatomegaly
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]
Skin
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Pachyonychia
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]
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Skin Thickening
Thickened papillary dermis, dermal melanophages with pigmentary incontinence ( 40 magnification). [journals.sagepub.com]
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Exanthema
Research of Navajo Immune Deficient Poikiloderma has been linked to Infective Disorder, Congenital Abnormality, Athabaskan Brainstem Dysgenesis Syndrome, Immunologic Deficiency Syndromes, Exanthema. [novusbio.com]
Psychiatrical
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Suggestibility
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]
Treatment
Treatment - Navajo poikiloderma Not supplied. Resources - Navajo poikiloderma Not supplied. [checkorphan.org]
After that treatment, lasers can improve the redness. Light therapy can improve both brown and red discoloration. [healthline.com]
Standard Therapies The treatment of Rothmund-Thomson syndrome is directed toward the specific symptoms that are apparent in each individual. Treatment may require the coordinated efforts of a team of specialists. [rarediseases.org]
He had received the same treatment as his sister with a stabilization of the lesions. No other relatives have similar symptoms. [scitcentral.com]
Congenital poikiloderma: treatment with etretinate. Br J Dermatol 1988 ; 118 : 729 – 30. Cross Ref link Pubmed link 60 Potozkin JR, Geronemus RG. [rooksdermatology.com]
Prognosis
Prognosis - Navajo poikiloderma Not supplied. Treatment - Navajo poikiloderma Not supplied. Resources - Navajo poikiloderma Not supplied. [checkorphan.org]
Etiology
In this singular observation, the cutaneous manifestations made it possible to specify the etiology of this congenital neutropenia in a brother and sister after several years of diagnostic wandering. [scitcentral.com]
The hypothesis of this study is that detailed study of rare cancer predisposition syndromes, such as RTS, will provide significant new insights into the molecular basis of genomic stability and the etiology of both inherited and sporadic cancers. [grantome.com]
RTS2 is caused by homozygous or compound heterozygous mutations in the RECQL4 helicase gene (8q24.3; detected in 60-65% of RTS patients), whereas the etiology in RTS1 remains unknown. [findzebra.com]
Worldwide incidence of 1/1,000,000 Western Navajo incidence of 1/2,000 52 Navajo Infant Mortality Rates 53 Navajo Neurohepatopathy (NNH) First described in 1967 by Appenzeller and Snyder Found in Navajo on the western Reservation Initial controversy as to etiology [slideplayer.com]
Epidemiology
In addition, the findings of epidemiological surveys are included where available. [nature.com]
In addition, the findings of epidemiological… CONTINUE READING Figures, Tables, and Topics from this paper. Citations Publications citing this paper. SHOWING 1-10 OF 16 CITATIONS References Publications referenced by this paper. [semanticscholar.org]
Pathophysiology
Bejar R, Levine R, Ebert BL: Unraveling the molecular pathophysiology of myelodysplastic syndromes. J Clin Oncol. 2011, 29: 504-515. 10.1200/JCO.2010.31.1175. [springermedizin.de]
Prevention
Prevention - Navajo poikiloderma Not supplied. [checkorphan.org]
It isn’t curable, but you can minimize your skin discoloration with treatment and prevent further damage by protecting your skin from the sun. [healthline.com]
Management is difficult and consis ts essentially in the prevention of infections. A better understanding of genetic abnormalities will certainly lead to the development of targeted therapies. [scitcentral.com]
Surgical removal of opacified lenses can be performed to prevent serious visual impairment or loss. [rarediseases.org]