Dyskeratosis Congenita Associated Non-Specific Interstitial Pneumonia
نویسندگان
چکیده
Dyskeratosis Congenita (DC) is a rare inherited disorder of ectodermal dysplasia. It consists of a classical mucocutaneous triad of abnormal skin pigmentation, nail dystrophy and leukoplakia. Pulmonary disease is seen in 10-15%. It is characterized by Idiopathic Pulmonary Fibrosis (IPF), or Idiopathic Familial Pulmonary Fibrosis (IFPF). Non-specific Interstitial Pneumonia (NSIP) has been reported rarely in children with DC and in an isolated adult patient. Our patient had classical clinical presentation of DC with pancytopenia and portal hypertension and clinic-radiological features of NSIP which is a rare association.
منابع مشابه
T cell immunodeficiency in dyskeratosis congenita.
Dyskeratosis congenita has been found to be associated with abnormal immune function. In this study we report a patient with this association. He developed Pneumocystis carinii interstitial pneumonia, and impaired cell mediated immunity was confirmed by the presence of depressed lymphoproliferative responses to in vitro stimulation with mitogen. Enumeration of T cell subsets showed a severely d...
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Dyskeratosis congenita (DC) is a rare inherited multisystem disorder characterised by lesions of the skin and appendages. Bone marrow failure occurs in 80% of patients. The gene for the X-linked form of DC has been identified on Xq28 and designated as DKC1. Pulmonary manifestations have rarely been reported. It is not known whether there is a respiratory disease peculiar to these patients and, ...
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Dyskeratosis congenita (DC) is a rare inherited multisystem disorder characterised by lesions of the skin and appendages. Bone marrow failure occurs in 80% of patients. The gene for the X-linked form of DC has been identified on Xq28 and designated as DKC1. Pulmonary manifestations have rarely been reported. It is not known whether there is a respiratory disease peculiar to these patients and, ...
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