Dyskeratosis congenita. Report of a large kindred

Abstract

This kindred includes six males with dyskeratosis congenita. It is the largest British pedigree so far reported and brings the total number of reported cases to fifty-nine. Our pedigree supports X-linked recessive inheritance and close linkage with the Xga locus was excluded. Three previously unreported complications are noted: Hodgkin's disease, adenocarcinoma of the pancreas and deafness. Normal chromosomal stability was found in three patients and immunological studies precluded an early universal defect in cell-mediated immunity.

Dyskeratosis congenita in all its forms

“…The majority (86%) of patients with DC recruited on the DCR are male and provide further evidence that the X‐linked recessive form of DC represents the majority of cases. Through linkage analysis in one large family, the DKC1 gene, responsible for X‐linked DC, was mapped to Xq28 ( Connor & Teague, 1981; Connor et al , 1986 ). Three additional families confirmed this linkage, and a maximum logarithm of the odds ratio (LOD) score was obtained with DXS52 with no recombinations ( Arngrimsson et al , 1993 ).…”

Zinsser-Cole-Engmann syndrome: A rare case report with literature review

“…These include mucosal neoplasms, particularly squamous cell carcinoma of the mouth, nasopharynx, esophagus, rectum, vagina, or cervix. The development of Hogkin’s disease and adenocarcinoma have been recorded (9). …”

Dyskeratosis Congenita: A Case Report

“…The spectrum of clinical manifestations in females may either be partial or complete (4,5). Net-like hyperpigmentation of the skin closely simulating poikiloderma vasculare atrophicans is the cardinal feature of this mesoectodermal disorder (3,6). Nail dystrophy has been reponed in 98% and mucosal leukokeratosis in 87% (3).…”