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Proceedings of the Royal Society of... Apr 1953
Topics: Humans; Rothmund-Thomson Syndrome; Skin Diseases
PubMed: 13055892
DOI: No ID Found -
The Journal of Dermatology Sep 2023
Topics: Female; Humans; East Asian People; Mutation; Neutropenia; Phosphoric Diester Hydrolases; Skin Abnormalities; Siblings
PubMed: 36938655
DOI: 10.1111/1346-8138.16782 -
Pediatric Blood & Cancer Sep 2018Poikiloderma with neutropenia (PN) is a genodermatosis characterized by poikiloderma, permanent neutropenia, recurrent infections, nail abnormalities, and palmoplantar...
Poikiloderma with neutropenia (PN) is a genodermatosis characterized by poikiloderma, permanent neutropenia, recurrent infections, nail abnormalities, and palmoplantar hyperkeratosis. We report the case of a Tunisian patient with PN. Skin lesions started from the face and spread to the extremities and trunk. Neutropenia was initially periodic and concomitant with infections periods. DNA analysis identified a novel homozygous deletion of a 1-bp (c.161delC, p.P54RfsX60) in the C16orf57gene, presumed to be causative. This report presents the variability of the clinical manifestations and evolution of PN and emphasizes the importance of studying other patients with PN to better delineate mutations profile among populations.
Topics: Abnormalities, Multiple; Child; Consanguinity; Craniofacial Abnormalities; DNA Mutational Analysis; Exons; Female; Genotype; Growth Disorders; Humans; Male; Mutation; Neutropenia; Phenotype; Phosphoric Diester Hydrolases; Sequence Deletion; Skin Abnormalities; Tunisia
PubMed: 29797650
DOI: 10.1002/pbc.27262 -
Dermatologic Surgery : Official... Mar 2018
Topics: Adult; Aged; Dermoscopy; Female; Humans; Hyperpigmentation; Male; Middle Aged; Neck; Skin Aging; Skin Diseases
PubMed: 28595244
DOI: 10.1097/DSS.0000000000001222 -
Archives of Dermatology and Syphilology Apr 1947
Topics: Atrophy; Humans; Parapsoriasis; Rothmund-Thomson Syndrome; Skin Diseases
PubMed: 20292672
DOI: No ID Found -
Acta Dermato-venereologica 1959
Topics: Cataract; Humans; Rothmund-Thomson Syndrome; Skin Diseases
PubMed: 14438710
DOI: No ID Found -
Cancer Mar 1970
Topics: Aged; Humans; Lymphatic Diseases; Lymphoma; Male; Skin; Skin Diseases
PubMed: 5416833
DOI: 10.1002/1097-0142(197003)25:3<682::aid-cncr2820250327>3.0.co;2-0 -
Annals of Dermatology Apr 2015Poikiloderma vasculare atrophicans (PVA) is a rare poikilodermatous variant of early-stage mycosis fungoides characterized by generalized poikiloderma, atrophy, mottled...
Poikiloderma vasculare atrophicans (PVA) is a rare poikilodermatous variant of early-stage mycosis fungoides characterized by generalized poikiloderma, atrophy, mottled dyspigmentation, and telangiectasia. In 2001, a 14-year-old male presented with asymptomatic brownish-gray polymorphic macules throughout the body with flexural accentuation. A skin biopsy showed increased melanophages with focal hydropic changes. Ashy dermatosis was considered a possible diagnosis. In 2005, the lesions began to show darkening and lichenification in the lower part of the trunk. In 2011, his skin showed definite poikilodermatous changes, and a biopsy showed band-like inflammatory infiltrations of atypical lymphocytes, epidermal atrophy, and epidermotropism of predominantly CD4(-)CD8(+) atypical T cells. In addition, results of T-cell receptor gene rearrangement analysis were positive. Based on the aforementioned findings, he was diagnosed with PVA. If a patient shows long-standing and progressive hyperpigmentary skin changes, periodic follow-up and repeated skin biopsies are recommended to determine the underlying condition.
PubMed: 25834361
DOI: 10.5021/ad.2015.27.2.197 -
Frontiers in Genetics 2022Congenital poikiloderma is an extremely rare autosomal dominant genetic syndrome, characterized by a combination of early onset poikiloderma, telangiectasia, and...
Congenital poikiloderma is an extremely rare autosomal dominant genetic syndrome, characterized by a combination of early onset poikiloderma, telangiectasia, and epidermal atrophy. gene with multiple mutations has been identified as a potential causative gene for congenital poikiloderma. In this report, we described a boy with congenital poikiloderma confirmed by clinical manifestations. Next-generation sequencing based on a gene probe panel consisting of 541 genetic loci of genodermatoses, was used to screen mutations of the proband and his parents. Results showed that a missense mutation in the gene c.1883G>A (rs587777238) was identified in the proband, but absent in his parents, indicating the mutation is . In conclusion, a new case of congenital poikiloderma in China was reported, and the hotspot mutations in codon 628 of gene was reviewed, as well as authenticating the uncertain association between genotypes and phenotypes in this rare disease.
PubMed: 36092869
DOI: 10.3389/fgene.2022.926451 -
Annales Universitatis Mariae... 1960
Topics: Rothmund-Thomson Syndrome; Skin Diseases
PubMed: 14040308
DOI: No ID Found