|Year : 2001 | Volume
| Issue : 1 | Page : 35-36
Quazi Masood , Shaikh Manzoor , Iffat Hussain
Department of Dermatology, STD and Leprosy, Government Medical College and Associate SMHS Hospital, Srinagar, Kashmir, J&K, India
Firdousabad-Batmaloo (Tengpora Road) Srinagar, Kashmir, J & K 190 001, India
Zinser-Cole-Engmann syndrome is a rare syndrome charactrized by atrophy and pigmentation of skin, nail dystrophy and oral leukoplakia. Here we report a case of this rare entity.
|How to cite this article:|
Masood Q, Manzoor S, Hussain I. Zinsser-cole-engmann syndrome. Indian J Dermatol Venereol Leprol 2001;67:35-6
| Introduction|| |
Zinsser-Cole-Engmann syndrome or dyskeratosis congenita is a genetically determined disorder associated with DNA instability which is usually inherited in an X-linked recessive fashion, though autosomal dominant inheritance has also been reported. The essential features of this syndrome are atrophy and pigmentation of skin, nail dystrophy and oral leukoplakia.,,,,
| Case Report|| |
A 25-year-old male, product of a nonconsanguinous marriage, presented to us with complaints of hyperpigmentation over face, trunk and extremities since childhood. On further probing his parents revealed that the pigmentation first started over the face around the age of 5 years and then extended to trunk and extremities within a span of 1-2 years. There was no family history of a similar disorder. His general physical and systemic examination was within normal limits.
Cutaneous examination revealed fine reticulate, grey brown pigmentation with atrophy and telangiectasia over face, trunk and extremities giving a poikilodermatous appearance. The skin over the back of hands and feet was diffusely atrophic, transparent and shining. There were a few erosions on the buccal mucous membrane but the rest of the mucous membranes were within normal limits. In addition to this the patient had a high arched palate. Nail examination revealed dystrophic nails with loss of a few toe nails. Scalp hair was sparse and dry but the rest of the hair was within normal limits.
Haemogram was done and did not reveal any abnormality. Skiagrams of the skull and long bones were also within normal limits. Skin biopsy taken from the area of poikiloderma on the trunk showed an atrophic epidermis with pigment laden macrophages in the dermis.
| Discussion|| |
Zinsser-Cole-Engmann syndrome or dyskeratosis congenita is a rare disorder first described by Zinsser in 1906 and later by Cole and Engman.,, Its inheritance is usually determined by an X-linked recessive gene. However, autosomal dominant inheritance has also been reported.
Atrophy and pigmentation of skin, nail dystrophy and oral leukoplakia are the essential features of this syndrome. The nail changes are usually the first to appear. Between the ages of 5 and 13 the nails become dystrophic and are shed. They may be reduced to horny plugs or be completely destroyed. The pigmentary changes may appear simultaneously or 2 or 3 years later, and reach their full development in 3 to 5 years. Fine, reticulated, grey- brown pigmentation is most conspicuous on the neck and thighs, but involves the greater part of the trunk. The skin is atrophic and telangiectases may be sufficiently numerous to give a poikilodermatous appearance. The onset of the mucous membrane lesions may coincide with, or follow the nail and skin changes. Small blisters and erosions of the lingual and buccal mucous membranes are succeded by irregular patches of leucoplakia. Similar changes may occur in other mucous membranes.
Blood dyscrasias, myeloid aplasia, refractory anaemia or pancytopenia have also been reported to occur in association with dyskeratosis congenita. However, they were lacking in our patient. Our patient also had all the features of dyskeratosis congenita except for the leukoplakia which had not yet set in. High arched palate was also seen in our patient which to the best of our knowledge has not been reported so far in these patients.
| References|| |
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|2.||Zinsser F. Atrophia cutis reticularis cum pigmentione, dystrophia unguium et leukokeratosis oris, lkonogr Dermatol, 1906; 5: 219-223. |
|3.||Cole HN, Rauschkolb JC, Toomey J. Dyskeratosis congenita with pigmentation, dystrophia unguis and leukokeratosis oris. Arch Dermatol Syphilol 1930; 21: 71-95. |
|4.||Engmann ME A unique case of reticular pigmentation of the skin with atrophy. Arch Dermatol Syphilol 1926; 13: 685- 687. |
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