|Year : 1993 | Volume
| Issue : 2 | Page : 80-83
Dyskeratosis congenita associated with 'empty' sella
RM Govalkar, A Parthasaradhi, SK Wangnoo
R M Govalkar
Source of Support: None, Conflict of Interest: None
A case of dyskeratosis congenita (DC) associated with 'empty' sella in a 22-year old Arab male born of consanguineous marriage is reported. He exhibited all the essential features of DC and various ocular and dental abnormalities. In addition, lateral radiograph of the skull revealed enlargement of the pituitary fossa and cranial CT scan showed features suggestive of 'empty' sella. The association of 'empty' sella with dyskeratosis congenita does not seem to have been recorded in earlier literature.
Keywords: Dyskeratosis congenita, `Empty′ sella
|How to cite this article:|
Govalkar R M, Parthasaradhi A, Wangnoo S K. Dyskeratosis congenita associated with 'empty' sella. Indian J Dermatol Venereol Leprol 1993;59:80-3
|How to cite this URL:|
Govalkar R M, Parthasaradhi A, Wangnoo S K. Dyskeratosis congenita associated with 'empty' sella. Indian J Dermatol Venereol Leprol [serial online] 1993 [cited 2020 Jul 5];59:80-3. Available from: http://www.ijdvl.com/text.asp?1993/59/2/80/3891
| Introduction|| |
Dyskeratosis congenita (DC) is a rare hereditary disorder with classical triad of reticulate pigmentation, nail dystrophy and leukoplakia of the mucous membranes. Variety of other features like Fanconi type pancytopenia, ocular and dental abnormalities and immunological defects have been described. Abnormalities of the CNS like low intelligence, small sella turcica and intracranial calcifications have also been reported. Our patient was found to be mentally sound and the radiograph of the skull revealed enlarged sella turcica. The cranial CT scan showed features suggestive of `empty' sella, which was an unusual feature in the present case.
| Case Report|| |
A 22-year-old Arab male born of consanguineous marriage presented with progressive cutaneous and nail changes since the age of 6 years. Skin changes in the form of scaling especially over the dorsa of both hands were noticed, which progressed to cause atrophy of the skin. Spontaneous pigmentary changes developed initially over the abdomen and subsequently involved lower back, thighs and forearms. The nail changes were noticed at about 6 to 8 years of age and gradually within a few years nails of all digits were completely destroyed. There was no history of any periungual infection, hyperhidrosis of palms and soles, bullous eruptions or photosensitivity. He had excessive lacrimation and recurrent conjunctivitis of both eyes since the age of 10 years. There were no urinary complaints or bowel irregularities. There was no history of dysphagia, any blood transfusions in the past. His general health had been excellent. He had no mental difficulties.
The patient was hyposthenic with normal vital parameters. The pigmentary changes included brownish-black discrete macules of 2-3 mm size over the butterfly area of the face and grayish-brown mottled pigmentation involving lower trunk and thighs over an apparently normal skin. The reticulate hyperpigmentation with hypopigmented atrophic macules and telangiectasia were present over the flexor aspect of both forearms. The skin' over the dorsa of the hands (Fig.1) and feet, elbows and knees was atrophic, shiny, translucent and wrinkled. The palms and soles were erythematous, shiny and atrophic showing loss of dermatoglyphic pattern over the fingertips, without any sensory deficit. The scrotal skin was atrophic and there was scaling over the glans penis. The testes were of normal size.
The nails (Fig. 1) of all digits were completely destroyed and were replaced by an atrophic and fibrotic skin. The proximal and lateral nail folds were absent. The oral cavity showed persistent firmly adherent irregular white patches of leukoplakia on the dorsa of the tongue [Figure - 2] and loss of papillae over the margins and tip of the tongue. The buccal mucosa was normal. The dental examination rovoalorl rhronic gingivitis, periodontitis, wide spacing, rotation and mal-alignment of teeth, extensive caries and loss of few teeth of both the jaws. The slit lamp examination of eyes showed bilateral atresia of lacrimal puncti of both upper and lower eyelids. The visual acuity, visual fields and fundus examination were normal. Sparseness of the ciliary hair and premature canities were also present. Anorectal mucosa was normal.
The parents and other siblings (3males, 1 female) did not have similar abnormalities.
The routine laboratory tests were negative or within normal limits. Histopathology of the reticulate pigmented skin on the forearms showed epidermal atrophy, focal degeneration of basal cell layer, melanin incontinence in upper dermis and mononuclear perivascular infiltrate in the upper and mid-dermis. Radiological studies of the chest, hands and feet, long bones and paranasal sinuses showed no abnormalities. The lateral X-ray of the skull showed enlarged pituitary fossa with no bony erosions. In the sagittal plane the length and depth of the pituitary fossa were 19 mm and 15 mm respectively (normal maximum values: length 17 mm and depth 14 mm). The cranial CT scan displayed hypodense intrasellar area (Fig.3) with no evidence of abnormal intravenous enhancement and was suggestive of 'empty' sella. There was no evidence of intracranial calcifications.
| Comments|| |
The diagnosis of dyskeratosis congenita in our patient was supported by the presence of characteristic triad of pigmentary and atrophic changes of the skin, nail dystrophy and leukoplakia on the tongue. In addition, he had variety of minor manifestations including dental and ocular abnormalities as have been described in earlier reports. There appears to be genetic heterogeneity in DC. The usual mode of inheritance is an X-linked recessive, with the majority of cases occurring in males born of nonconsanguineous marriage. sub Out of approximately 108 reported cases about 7 cases have been reported resulting from 4 consanguineous marriages. ,, In 5 of these cases the inheritance was an autosomal dominant type  Our patient was born of consanguineous marriage and this seems to be the eighth reported case resulting from the fifth consanguineous marriage. The mode of inheritance is not clear.
We observed an unusual distribution of mottled grayish brown pigmentation overlying an apparently normal skin which was more pronounced over the lower trunk and thighs. Unlike previous cases the reticulate pigmentation resembling poikiloderma clinically and histopathologically was present only on the flexor aspect of the forearms in a linear pattern sparing the usual sites (face, neck and upper trunk).
Enlargement of pituitary fossa in our case is in contrast the earlier reports of small sella turcica described in DC.  The normal endocrine functions, absence of visual field defects, normal visual acuity and normal fundi in our patient ruled out the possibility of intrasellar tumour or raised intracranial tension as the cause of enlarged sella turcica. Further studies with CT scan of cranium revealed hypodense intrasellar area without any evidence of abnormal intravenous enhancement, which was suggestive of presence of CSF in the sella. Negative history of any skull surgery, the positive findings in skull X- ray and CT scan, normal hormonal profile were all correlating well with the diagnosis of primary 'empty' sella
In primary 'empty' sella the suprasellar subarachnoid recess filled with CSF herniates into the pituitary fossa, through the developmental defect in the diaphragma sella and the fluid transmitted pulsations result in enlargement of the sella turcica. 
We do not know whether primary 'empty' sella is one of the many abnormalities associated with DC or a chance simultaneous occurrence. The occurrence of enlarged sella turcica with `empty' sella does not seem to have been recorded in earlier cases. Both these conditions being ectodermal developmental disorders, we assume that primary 'empty' sella is one of the many abnormalities associated with dyskeratosis congenita.
| References|| |
|1.||Singh K, Kolalapudi S. Dyskeratosis congenita. J Dermatol 1986; 13 : 54 - 8. |
|2.||Tchou PK, Kohn T. Dyskeratosis congenita an autosomal dominant disorder. J Am Acad Dermatol 1982; 6 : 1034-9. |
|3.||Castello MJ, Buncke CM. Dyskeratosis congenita. Arch Dermatol 1956; 73 :123-32. |
|4.||Jansen LH. The so called 'dyskeratosis congenita'. Dermatologica 1951; 103 167-77. |
|5.||Gilbert HG, Joseph BM. Neuroendocrine regulation and diseases of the anterior pituitary and hypothalamus. In : Principals of Internal Medicine (Wilson JD, Braunwald E, Isselbacher KJ, et al; eds), 12th edn. New York : Mc Graw-Hill, 1991; 1677. |
[Figure - 1], [Figure - 2], [Figure - 3]