期刊
AMERICAN JOURNAL OF MEDICAL GENETICS PART A
卷 146A, 期 21, 页码 2762-2769出版社
WILEY-BLACKWELL
DOI: 10.1002/ajmg.a.32524
关键词
cystic fibrosis; dyskeratosis congenital; Rothmund-Thomson syndrome
资金
- GENESKIN [EU FP6 LSHB-CT-2005-512117]
Three siblings from Morocco consanguineous family presented with cutaneous poikiloderma following postnatal ichthyosiform lesions, associated with papillomatous lesions, palmoplantar keratoderma, pachyonychia of toenails, fragile carious teetch, and lachrymal duct obstruction. Photosensitivity and blistering improved with age. Atrophic scars were prominent on the limbs. Neutropenia developed in the first year secondary to dysmyelopoiesis affecting the granulocyte lineage, associated with a polyclonal hypergammaglobulinemia. Several broncho-pulmonary infectious episodes complicated the evolution, and cystic fibrosis was first considered on the basis of repeated abnormal sweat chloride tests but not confirmed by molecular analyses. This autosomal recessive disorder matches that described originally as poikiloderma with neutropenia-Clericuzio type in Navajo Indians (OMIM 604173). It is discussed within the group of the major hereditary poikiloderma disorders, that is, Rothmund-Thomson syndrome, dyskeratosis congenita, and Kindler syndroe. (c) 2008 Wiley-Liss, Inc.
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