Dyskeratosis congenita: presentation of cutaneous triad in a sporadic case

Sharma, Reena; Gupta, Mrinal; Sood, Shilpa; Gupta, Archit

doi:10.1136/bcr-2018-226736

Cited by 5 publications

(7 citation statements)

References 8 publications

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“…D congenita is an exceptional heterogenous inherited syndrome related to a defective telomer maintenance, associated with bone marrow failure, premature aging, and cancer predisposition. 25,26 This genetic disorder is characterized by the triad associating nail dystrophy, oral leukoplakia, and reticular pigmentation of the neck or the body. 25,26 Nail alterations are present in 90% of patients, usually before the age of 10 years and affects the fingernails first.…”

Section: Drugsmentioning

confidence: 99%

“…25,26 This genetic disorder is characterized by the triad associating nail dystrophy, oral leukoplakia, and reticular pigmentation of the neck or the body. 25,26 Nail alterations are present in 90% of patients, usually before the age of 10 years and affects the fingernails first. Allogenic hematopoietic stem cell transplantation is the only curative treatment for bone marrow failure.…”

Section: Drugsmentioning

confidence: 99%

“…Allogenic hematopoietic stem cell transplantation is the only curative treatment for bone marrow failure. 25,26 Clubbing Digital clubbing, also known as Hippocratic fingers, is defined by morphologic changes 1 : Soft tissue hypertrophy with bulbous enlargement of the distal digit. Increased transverse and longitudinal curvature of the nail.…”

Section: Drugsmentioning

confidence: 99%

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Nail is Systemic Disorders: Main Signs and Clues

Dehavay

Richert

2021

Dermatologic Clinics

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Nail alterations are common in systemic diseases, but most of them are not specific. Typical nail signs for systemic disease are rare, but should not be missed. Some nail signs should suggest a systemic disease, especially if present on several digits: Beau's lines, onychomadesis, splinter hemorrhages, clubbing, apparent leukonychia, abnormal nail fold capillaries, melanonychia, red lunula and pterygium inversum unguis.

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Section: Drugsmentioning

confidence: 99%

Section: Drugsmentioning

confidence: 99%

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Nail is Systemic Disorders: Main Signs and Clues

Dehavay

Richert

2021

Dermatologic Clinics

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“…Врожденный дискератоз, известный как синдром Цинссера-Энгмана-Коула (Zinsser-Engman-Cole Syndrome), -наследственный симптомокомплекс, основными клиническими проявлениями которого являются пойкилодермия, дистрофические изменения ногтей, лейкоплакия слизистой оболочки ротовой полости [91,92]. Заболевание (англ.…”

Section: другие наследственные заболевания с признаками преждевременного старенияunclassified

Hereditary syndromes with signs of premature aging

et al. 2020

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Aging is a multi-factor biological process that inevitably affects everyone. Degenerative processes, starting at the cellular and molecular levels, gradually influence the change in the functional capabilities of all organs and systems. Progeroid syndromes (from Greek. progērōs prematurely old), or premature aging syndromes, represent clinically and genetically heterogeneous group of rare hereditary diseases characterized by accelerated aging of the body. Progeria and segmental progeroid syndromes include more than a dozen diseases, but the most clear signs of premature aging are evident in Hutchinson-Guilford Progeria Syndrome and Werner Syndrome. This review summarizes the latest scientific data reflecting the etiology and clinical picture of progeria and segmental progeroid syndromes in humans. Molecular mechanisms of aging are considered, using the example of progeroid syndromes. Modern possibilities and potential ways of influencing the mechanisms of the development of age-related changes are discussed. Further study of genetic causes, as well as the development of treatment for progeria and segmental progeroid syndromes, may be a promising direction for correcting age-related changes and increasing life expectancy.

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“…DKC is an inherited bone marrow failure syndrome due to telomere biology disorder and presents with heterogenous clinical manifestations (1). Spectra of clinical features vary from the classical triad of reticulated pigmentation of skin, nail dystrophy, and oral leukoplakia to life-threatening complications including bone marrow failure, solid tumor malignancies, pulmonary and liver fibrosis, and immunodeficiencies (2,3).…”

Section: Introductionmentioning

confidence: 99%

Case report: A novel mutation in RTEL1 gene in dyskeratosis congenita

Nisar

Khan²,

Chaudhry³

et al. 2023

Front. Oncol.

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Dyskeratosis congenita (DKC), also known as Zinsser–Cole–Engman syndrome, is a telomeropathy typically presenting as a triad of leukoplakia, nail dystrophy, and reticular hyperpigmentation. Reported genetic mutations linked to DKC include DKC1, TINF2, TERC, TERT, C16orf57, NOLA2, NOLA3, WRAP53/TCAB1, and RTEL1. Homozygous, compound heterozygous, and heterozygous mutations in RTEL1 (RTEL1, regulator of telomere elongation helicase 1) gene on chromosome 20q13 are known to cause autosomal dominant as well as recessive DKC. Pathogenic variants of RTEL1 gene in DKC patients include c.2288G>T (p. Gly763Val), c.3791G>A (p. Arg1264His), and RTEL p. Arg981Trp. We report a novel homozygous variant of RTEL1, transcript ID: ENST00000360203.11, exon 24, c.2060C>T (p.Ala687Val), in a patient of DKC presenting with leukoplakia, dystrophic nails, reticulate pigmentation, and positive family history of a similar phenotype. The novel variant, reported as a variant of uncertain significance, may therefore be considered diagnostic for DKC in a Pakistani population.

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Dyskeratosis congenita: presentation of cutaneous triad in a sporadic case

Cited by 5 publications

References 8 publications

Nail is Systemic Disorders: Main Signs and Clues

Nail is Systemic Disorders: Main Signs and Clues

Hereditary syndromes with signs of premature aging

Case report: A novel mutation in RTEL1 gene in dyskeratosis congenita

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