Dyskeratosis Congenita: A Case Report

Sehgal, Virendra; Thappa, Devinder Mohan; Sharma, R. C.; Jain, Sanjiv; Bhattacharya, Sambit

doi:10.1111/j.1346-8138.1993.tb03830.x

Cited by 3 publications

(2 citation statements)

References 8 publications

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“…1,2,3 Few clinical reports (without mutation testing) have been published from India. 5,6,7,8,9,10,11 The Dyskeratosis Congenita registry had identified 2 siblings of Indian ethnicity previously. The mutation identified in them was: G402R (glycine substituted by arginine), due to substitution of nucleotide 1204G with A in exon 12 of DKC1 gene.…”

Section: Discussionmentioning

confidence: 99%

Identification of DKC1 gene mutation in an Indian patient

et al. 2010

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Dyskeratosis congenita--X-linked variety was diagnosed in a twelve year old male child with cutaneous pigmentary changes and dystrophic changes in nails of hands and feet. His elder brother had similar nail changes and had died at twelve yr of age. We demonstrated the A353V mutation in the proband after sequencing the DKC1 gene. The mother was found to be carrier for the same mutation. She did not have any clinical manifestations. This is the commonest mutation worldwide responsible for X-linked variety of this disease and has been demonstrated for the first time in an native Indian patient.

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Section: Discussionmentioning

confidence: 99%

Identification of DKC1 gene mutation in an Indian patient

et al. 2010

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“…Aberrant keratotic lesions may appear on the dorsum of the hands, feet, knees, and elbows 3,4 . Hyperhidrosis, 2,3 thickened nails, 2 clinodactyly, 15 low serum Vitamin A, 2 dermatophytosis, 16 cutaneous horns, 17 contractures, 10 and dyskeratosis congenita 18 are its other associated features. The incidence of dermatophytosis was found to be 35% with an almost complete therapeutic resistance, especially in Trichophyton rubrum 16 .…”

Section: Clinical Repercussionsmentioning

confidence: 99%

Hereditary Palmoplantar (Epidermolytic) Keratoderma: Illustration Through a Familial Report

Sehgal¹,

Sardana

Sharma

et al. 2004

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Hereditary palmoplantar keratoderma, a well-known clinical entity, is illustrated through a familial report of an unmarried young man who is the product of a consanguineous marriage (paternal and maternal grandmothers were sisters). The lesions were characterized by immense yellow waxy thickening of the skin surrounded by erythematous border (halo) and fissures/cracks associated with extensive scaling of the palms and soles. The lesions were bilateral and symmetrical. These features were supported by orthokeratotic hyperkeratosis hypergranulosis and acanthosis in hematoxylin-eosin stained tissue sections prepared from the soles. Mycelia/spores could not be identified on Periodic acid-Schiff (PAS) reaction. An autosomal dominant trait was revealed through family pedigree. An abridged update to recap the current status is highlighted.

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