X-linked Dyskeratosis Congenita With Pancytopenia

Gutman, Alexander B.

doi:10.1001/archderm.1978.01640230041011

Cited by 41 publications

(3 citation statements)

References 26 publications

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“…The disease is characterized by a triad of clinical findings: reticulated pigmentation of the skin, nail dystrophy, and leukoplakia of the mucous membranes. [1][2][3][4][5] Sirinavin and Trowbridge1 reviewed the literature and summarized the associated disease manifestations. The most frequent of these were pancytopenia4,5 and malignant neoplasm.1,2 We report a kindred (Fig 1) with dyskeratosis congenita having two affected male members and one affected female member.…”

mentioning

confidence: 99%

Dyskeratosis Congenita With Macular Cutaneous Amyloid Deposits

Llistosella¹

1984

Arch Dermatol

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confidence: 99%

Dyskeratosis Congenita With Macular Cutaneous Amyloid Deposits

Llistosella¹

1984

Arch Dermatol

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“…Interestingly, some cytogenetic studies have found non-classical chromosome abnormalities, such as pulverization (fragmentation of the entire chromatin) and fragmentation of individual chromosomes, whereas the rest of the chromosomes in the same metaphase spread appear normal ( 109 , 113 ). Other genomic events found in DC/TBD cells include micronuclei, lagging chromosomes, and anaphase bridges ( 113 ), as well as endoreduplications and polyploidy ( 114 ). These types of cytogenetic findings may be important in the light of recent discoveries, according to which the BFB cycle can cause cell death (as pulverized mitosis) or very irregular mitosis that could survive if cytokinesis is interrupted (endoreduplication or polyploidy).…”

Section: Pathophysiologymentioning

confidence: 99%

Fanconi anemia and dyskeratosis congenita/telomere biology disorders: Two inherited bone marrow failure syndromes with genomic instability

et al. 2022

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Inherited bone marrow failure syndromes (IBMFS) are a complex and heterogeneous group of genetic diseases. To date, at least 13 IBMFS have been characterized. Their pathophysiology is associated with germline pathogenic variants in genes that affect hematopoiesis. A couple of these diseases also have genomic instability, Fanconi anemia due to DNA damage repair deficiency and dyskeratosis congenita/telomere biology disorders as a result of an alteration in telomere maintenance. Patients can have extramedullary manifestations, including cancer and functional or structural physical abnormalities. Furthermore, the phenotypic spectrum varies from cryptic features to patients with significantly evident manifestations. These diseases require a high index of suspicion and should be considered in any patient with abnormal hematopoiesis, even if extramedullary manifestations are not evident. This review describes the disrupted cellular processes that lead to the affected maintenance of the genome structure, contrasting the dysmorphological and oncological phenotypes of Fanconi anemia and dyskeratosis congenita/telomere biology disorders. Through a dysmorphological analysis, we describe the phenotypic features that allow to make the differential diagnosis and the early identification of patients, even before the onset of hematological or oncological manifestations. From the oncological perspective, we analyzed the spectrum and risks of cancers in patients and carriers.

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“…The case we report was also unusual since one of the patient's sons was affected. Indeed, DC is considered by most authors to be an X-linked recessive trait and father-to-son transmission should not, therefore, be possible [1,12,[17][18][19]. Nevertheless, a number of documented cases of parent-to-child transmission have been reported, raising the possibility of a dominant mode of transmission (20)(21)(22).…”

Section: Commentsmentioning

confidence: 99%

Bronchoalveolar disease in dyskeratosis congenita

Verra¹,

Kouzan²,

Saïag³

et al. 1992

Eur Respir J

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Dyskeratosis congenita (DC) is an unusual familial disorder primarily affecting the skin and its appendages. We report the case of a DC patient with chronic respiratory tract involvement, confirming the features previously reported by a small number of authors: 1) chronic bronchoalveolar involvement is not unusual in this disorder; 2) the main features are early sputum production with subsequent bronchial and alveolar destruction; 3) after onset of dyspnoea the course is rapidly fatal, with progressive respiratory failure. Immune deficiency and repeated bronchoalveolar infections may be involved in the pathogenesis of these manifestations.

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X-linked Dyskeratosis Congenita With Pancytopenia

Cited by 41 publications

References 26 publications

Dyskeratosis Congenita With Macular Cutaneous Amyloid Deposits

Dyskeratosis Congenita With Macular Cutaneous Amyloid Deposits

Fanconi anemia and dyskeratosis congenita/telomere biology disorders: Two inherited bone marrow failure syndromes with genomic instability

Bronchoalveolar disease in dyskeratosis congenita

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