Dyskeratosis Congenita With Pigmentation, Dystrophia Unguium and Leukoplakia Oris

Garb, John

doi:10.1001/archderm.1947.01520020097007

Cited by 17 publications

(8 citation statements)

References 9 publications

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“…These patients are at high risk for the development of squamous cell carcinoma from these lesions [21] . Due to the rarity of DC (1: 1,000,000 individuals), quantification of the cancer risk is difficult, but reports have shown 9% of male patients develop malignancies [22] and multiple case reports have demonstrated the association of DC with oral cancer [23][24][25][26][27][28][29][30][31] .…”

mentioning

confidence: 99%

Inactivation of the Tumor Suppressor Genes Causing the Hereditary Syndromes Predisposing to Head and Neck Cancer via Promoter Hypermethylation in Sporadic Head and Neck Cancers

Smith¹,

Mithani

Mydlarz³

et al. 2010

ORL

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Fanconi anemia (FA) and dyskeratosis congenita (DC) are rare inherited syndromes that cause head and neck squamous cell cancer (HNSCC). Prior studies of inherited forms of cancer have been extremely important in elucidating tumor suppressor genes inactivated in sporadic tumors. Here, we studied whether sporadic tumors have epigenetic silencing of the genes causing the inherited forms of HNSCC. Using bisulfite sequencing, we investigated the incidence of promoter hypermethylation of the 17 Fanconi- and DC-associated genes in sporadic HNSCC. Genes that only showed methylation in the tumor patients were chosen for quantitative methylation-specific PCR (qMSP) in a set of 45 tumor and 16 normal patients. Three gene promoters showed differences in methylation: FancB (FAAP95, FA core complex), FancJ (BRIP1, DNA Helicase/ATPase), and DKC1 (dyskeratin). Bisulfite sequencing revealed that only FancB and DKC1 showed no methylation in normal patients, yet the presence of promoter hypermethylation in tumor patients. On qMSP, 1/16 (6.25%) of the normal mucosal samples from non-cancer patients and 14/45 (31.1%) of the tumor patients demonstrated hypermethylation of the FancB locus (p < 0.05). These results suggest that inactivation of FancB may play a role in the pathogenesis of sporadic HNSCC.

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confidence: 99%

Inactivation of the Tumor Suppressor Genes Causing the Hereditary Syndromes Predisposing to Head and Neck Cancer via Promoter Hypermethylation in Sporadic Head and Neck Cancers

Smith¹,

Mithani

Mydlarz³

et al. 2010

ORL

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“…Four patients in the literature [3,8,9,12] presented with only pigmentation and nail dystrophy, and they should be considered as formes frustes as suggested by Garb [7],…”

Section: Discussionmentioning

confidence: 98%

Dyskeratosis Congenita

Wang

Wong

1975

Dermatology

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“…Dyskeratosis congenita is a clinical diagnosis with no pathognomonic features, but is characterized by a triad of reticulate pigmentation of skin, dystrophic nails, and leukoplakia of the mucous membranes (3), all of which have been observed in the present case. Various other abnormalities including bulla formation, aplastic anemia and thrombocytopenia have been reported in one or more dyskeratosis congenita patients (3)(4)(5)(6). Cases without demonstrable leukoplakia have also been described (7,8).…”

Section: Discussionmentioning

confidence: 99%

“…A sex-linked mode of inheritance has been suggested on the basis of the syndrome's preponderant occurrence in males born of non-consanguineous marriage (5,6,14,17,18). However, pedigrees with autosomal dominant inheritance have also been described (19)(20)(21)(22).…”

Section: Discussionmentioning

confidence: 99%