Table 1 Clinical abnormalities reported, so far, in association with dyskeratosis congenita
From: Fatal bilateral pneumothoraces complicating dyskeratosis congenita: a case report
Organ system | Defect or abnormality |
|---|---|
Skin | Abnormal skin pigmentation |
| Â | Chronic dermal ulcer |
| Â | Hyperhidrosis |
Nail | Nail dystrophy |
Oral cavity | Extensive dental caries |
| Â | Dental loss |
| Â | Leukoplakia |
| Â | Squamous carcinoma of the mouth |
Hair | Premature hair |
| Â | Alopecia |
| Â | Grey hair |
| Â | Sparse eyelashes |
Lungs | Asthma |
| Â | Pulmonary fibrosis |
| Â | Hepatopulmonary syndrome |
| Â | Pulmonary microvascular abnormalities |
| Â | Bronchiectasis |
| Â | Fibrocystic dysplasia |
| Â | Pneumocystis jiroveci pneumonia |
| Â | Chronic pneumonitis |
Gastrointestinal | Esophageal stricture |
| Â | Peptic ulceration |
| Â | Enteropathy |
| Â | Liver disease (cirrhosis, portal hypertension) |
| Â | Gastrointestinal adenocarcinoma |
Genitourinary | Hypogonadism |
| Â | Undescended testes |
| Â | Urethral stricture |
| Â | Phimosis |
Central Nervous System | Learning difficulties |
| Â | Developmental delay |
| Â | Mental retardation |
| Â | Ataxia |
| Â | Cerebellar hypoplasia |
| Â | Cerebellar malformation |
| Â | Microcephaly |
| Â | Peripheral neuropathy |
Hematologic | Bone marrow failure |
| Â | Hodgkin's lymphoma |
Skeletal | Osteoporosis |
| Â | Aseptic necrosis |
| Â | Scoliosis |
| Â | Short stature |
Ophthalmic | Epiphora |
| Â | Chronic keratoconjunctivitis |
Gynecologic and Obstetric | Intrauterine growth retardation |
| Â | Vaginal squamous cell carcinoma |
| Â | Cervical squamous cell carcinoma |
ENT | Deafness |
| Â | Laryngeal carcinoma |
| Â | Nasopharyngeal carcinoma |