Zinsser-cole-engmann syndrome

Quazi Masood, Shaikh Manzoor, Iffat Hussain

 Department of Dermatology, STD and Leprosy, Government Medical College and Associate SMHS Hospital, Srinagar, Kashmir, J&K, India

Correspondence Address:
Iffat Hussain
Firdousabad-Batmaloo (Tengpora Road) Srinagar, Kashmir, J & K 190 001
India

Introduction

Zinsser-Cole-Engmann syndrome or dyskera-tosis congenita is a genetically determined disorder associated with DNA instability which is usually in-herited in an X-linked recessive fashion, though au-tosomal dominant inheritance has also been reported. The essential features of this syndrome are atrophy and pigmentation of skin, nail dystrophy and oral leukoplakia.[1],[2],[3],[4],[5]

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 exami-nation was within normal limits.

Cutaneous examination revealed fine reticu-late, grey brown pigmentation with atrophy and te-langiectasia over face, trunk and extremities giving a poikilodermatous appearance. The skin over the back of hands and feet was diffusely atrophic, trans-parent 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 dyskera-tosis congenita is a rare disorder first described by Zinsser in 1906 and later by Cole and Engman.[1],[2],[3] Its inheritance is usually determined by an X-linked re-cessive gene. However, autosomal dominant inherit-ance has also been reported.[5]

Atrophy and pigmentation of skin, nail dys-trophy and oral leukoplakia are the essential fea-tures 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 develop-ment 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 suffi-ciently numerous to give a poikilodermatous appear-ance. 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.[6] However, they were lacking in our patient. Our pa-tient 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.

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