Table 2.

Physical Findings Reported in the Literature

B) Dyskeratosis Congenita^*

Any Physical Abnormality 75%. Male:female 3.2:1.
Diagnostic Triad: All 3 components 46%, 2 of 3 features 22%, 1 of 3 features 9%; any or all 75%; nail dystrophy 70%, skin lacey reticular pigmentation 67%, oral leukoplakia 47%
Eyes (29%): Lacrimal duct stenosis, epiphora, blepharitis, exudative retinopathy, vascular retinopathy, strabismus, cataracts, absent eyelashes, ulcers
Hair (19%): Sparse, thin, alopecia, early loss, early grey, sparse eyebrows
Teeth (13%): Caries, missing, abnormal shape, periodontitis, decreased crown/root ratio, taurodontism
Development (13%): Developmental delay, retardation
Gastrointestinal (12%): 8% Esophageal stenosis, stricture, web; 2% liver cirrhosis, fibrosis, dysfunction
Short (12%)
Skeletal (10%):
Osteopenia (6%): osteoporosis
Hip (3%): avascular necrosis, aseptic necrosis
Head (9%): 9% Microcephaly, 5% cerebellar hypoplasia, 3% intracranial calcification, Dandy-Walker, tonsillar herniation
Low Birth Weight (9%)
Cardiopulmonary (7%):
Pulmonary (7%): pulmonary fibrosis, decreased perfusion, restrictive lung disease, arterio-venous fustulas
Cardiac (1%): atrial septal defect, ventricular septal defect, dilated cardiomyopathy
Genitourinary (7%): phimosis, meatal stenosis, urethral stricture, hypospadias, penile leukoplakia
Gonads (3%):
Male: Small testes, undescended testes
Female: atrophic, constriction, vaginal leukoplakia
Hyperhidrosis (6%)
Neurologic Signs (4%): Ataxia, spasticity, hypotonia
Ears (2%): deaf, rotated, low set
Hoyeraal-Hreidarsson 5%
Revesz 4%

^*Listed in approximate order of frequency. Percent is from 550 cases reported in the literature from 1910 to 2009. Frequencies are very approximate, since many reports did not mention physical descriptions; in addition, many findings are age-dependent.

Atkinson