Dyskeratosis congenita of Zinsser Cole Engman
Overview
Dyskeratosis congenita of Zinsser-Cole-Engman: An inherited condition characterized by recurring painful mouth ulcers, skin pigmentation and nail abnormalities.
Symptoms
The list of signs and symptoms mentioned in various sources for Dyskeratosis congenita of Zinsser-Cole-Engman includes the 27 symptoms listed below: * Dysonchia * Suppurative paronychia * Reticulate grayish skin pigmentation * Atrophy * Telangiectases * Red face * Atrophic skin * Discolored skin spots * Palmar keratosis * Sole keratosis * Excessive sweating * Blisters * Oral lesions * Mucosal lesions * Leukoplakia * Conjunctival lesions * Excessive tearing * Teeth defect * Sparse hair * Retarded physical development * Retarded mental development * Testicular atrophy * Acanthosis * Parakeratosis * Lesions on gastrointestinal tract mucosa * Anemia * Pancytopenia
Diagnosis
In cases of diffuse thickening of the skin, a thyroid profile with T 3 , T 4 , and TSH should be done. This should also identify hypothyroidism. A positive ANA test with a speckled pattern will help identify scleroderma, but a skin biopsy should also be done. An antisclerodermal antibody titer is also useful if available. Esophageal motility studies will be helpful in early diagnosis. A skin biopsy will help identify many of the other conditions mentioned above. Urine for porphyrins will help identify porphyria.
Prognosis
Prognosis of Dyskeratosis congenita of Zinsser-Cole-Engman: in the form called forme fruste with only dysonychia and pigmentation, there is a normal life expectancy.The 'prognosis' of Dyskeratosis congenita of Zinsser-Cole-Engman usually refers to the likely outcome of Dyskeratosis congenita of Zinsser-Cole-Engman. The prognosis of Dyskeratosis congenita of Zinsser-Cole-Engman may include the duration of Dyskeratosis congenita of Zinsser-Cole-Engman, chances of complications of Dyskeratosis congenita of Zinsser-Cole-Engman, probable outcomes, prospects for recovery, recovery period for Dyskeratosis congenita of Zinsser-Cole-Engman, survival rates, death rates, and other outcome possibilities in the overall prognosis of Dyskeratosis congenita of Zinsser-Cole-Engman. Naturally, such forecast issues are by their nature unpredictable.