[Zinsser-Engman-Cole syndrome (dyskeratosis congenita) with severe sicca syndrome, panuveitis and corneal perforation--a case report].
BACKGROUND
Zinsser-Engman-Cole syndrome (Z.E.C.) is a very rare type of ectodermal dysplasia, inherited in X-linked recessive manner and characterised by poikiloderma, nail dystrophy, lingual leucoplakia, bone marrow hypoplasia, hyperkeratosis and hyperhidrosis of planta and palms, dental anomalies and caries, premature grey hair.


METHODS
We report on a 46-year-old man who presented with occlusion of lacrimal puncta, trichiasis, severe dry eye, recurrent corneal ulceration and perforation, uveitis. HLA typing, flow cytometry of peripheral lymphocytes, bone marrow biopsy, conjunctival biopsy and extensive laboratory evaluation towards autoimmune and infectious diseases were performed.


RESULTS
CD4+ T cells fraction was decreased, CD8+ and CD3+ HLA DR+ elevated. The patient was HLA-B27 positive. Laboratory studies revealed increased erythrocyte sedimentation rate and C-reactive protein level, hypochromic and hypoplastic anaemia, negative serum titers of antibodies to Epstein-Barr virus, HIV, HTLV-I, toxoplasma gondii and treponema pallidum, repeated titers to cytomegalovirus, herpes simplex and herpes zoster viruses--IgM negative, IgG positive. Corneal perforation was treated with amniotic membrane transplantation and corneal transplantation.


CONCLUSIONS
The defect in cell-mediated immune mechanisms in Z.E.C. syndrome explains the corneal perforation, sicca syndrome and uveitis, first reported in this syndrome.
Zagórski
Z
Z
Universitäts-Augenklinik, Chmielna 1, 20-075 Lublin, Polen.
Biziorek
B
B
Rakowska
E
E
Jedrzejewski
D
D
D001327:Autoimmune Diseases / Q000175:diagnosis / Q000276:immunology* / Q000601:surgery; D001706:Biopsy; D003228:Conjunctiva / Q000276:immunology / Q000473:pathology; D016039:Corneal Transplantation; D003320:Corneal Ulcer / Q000175:diagnosis / Q000276:immunology* / Q000601:surgery; D003937:Diagnosis, Differential; D019871:Dyskeratosis Congenita / Q000175:diagnosis / Q000276:immunology* / Q000601:surgery; D015796:HLA-B27 Antigen / Q000097:blood; D006684:HLA-DR Antigens / Q000097:blood; D006801:Humans; D007638:Keratoconjunctivitis Sicca / Q000175:diagnosis / Q000276:immunology* / Q000601:surgery; D018655:Lymphocyte Count; D008297:Male; D008875:Middle Aged; D015864:Panuveitis / Q000175:diagnosis / Q000276:immunology* / Q000601:surgery; D012422:Rupture, Spontaneous
D015796:HLA-B27 Antigen; D006684:HLA-DR Antigens