|Year : 1968 | Volume
| Issue : 3 | Page : 127-133
Little Flower Hospital, Angamali, Kerala, India
|Date of Web Publication||24-Dec-2007|
S P Shukla
Little Flower Hospital, Angamali, Kerala
Source of Support: None, Conflict of Interest: None
|How to cite this article:|
Shukla S P. Ectodermal dysplasias. Indian J Ophthalmol 1968;16:127-33
This group, also known as phakomatosis (birth mark), includes tuberous sclerosis (Bourneville's disease); neurofibromatosis (von Recklinghausen's disease); angiomatosis retina (von Hippel-Lindau's disease); vascular encephalo-trigeminal syndrome (Sturge-Weber syndrome) and nevus epitheliomatodes multiplex (HERMANS, GROSFELD AND VALK  ). It has in common the presence of neoplasia or dysplasia in the central or peripheral nervous system and in other organs as well as various skin manifestations. Often inapparent at birth they may appear as mixed and incomplete syndromes.
These are rare heredofamilial diseases and are seldom reported from India. Until lately, it was generally thought that this malady was not encountered amongst coloured races. (BRAIN, GREENFIELD AND SUTTON  but in recent years, quite a few cases were reported by Indian workers CHAKRAVORTY, BANNERJI AND GHOSH  . ROY  CHANDA  GANGULI, AGRAWAL AND SINHA  and CHAKRAVORTY AND GHOSH,  . A typical case of tuberous sclerosis in a girl along with an incomplete syndrome n other members of the patient's family and two cases of an incomplete syndrome in another family are reported. A case of neurofibromatosis in a boy is also reported.
The propositus, Pedi. I, gen. IV. No. 22, (Plate 1 b) a girl of 14 years was referred for fundus examination by the physician of this Little Flower Hospital, Angamali on 7th Dec. 66, as she had an attack of fit on the previous day. Taking history, it was noted that she used to get fits of and on since the age of 8 years. External examination revealed that the right cheek was swollen with pigmented spots on it. On either side of the nose minute multiple sebaceous overgrowths were also present. The right fundus showed a slightly elevated growth 2 x 3 mm, of glistening yellowish white colour, just on the temporal margin of the disc as the only abnormality. The left fundus was normal. Vision in both the eyes was normal. X-ray skull showed evidence of patchy dense areas scattered all over the skull. With these retinal, X-ray signs, generalised swelling of cheek with pigmented spots on it, multiple sebaceous overgrowths on either side of the nose and the history of fits, the diagnosis of tuberous sclerosis was made. Because of the known familial incidence of the disease the family tree was traced. There was no history of consanguinity in the family.
The pedigree (Pedi. I) consists of five generations and eight sibships. In generation two, reliance had to be placed on family reports as all had died. In all 46 members of the family were examined. In generation III, 2 and 6 could not be traced as they had left the place after their marriage, but on history they were reported normal along with their offsprings, (7-11 and 28-36 in gen. IV). All the other members in generations III, IV and V were examined. Radiological examinations were done only in the case of propositus and her father. It was normal in the father while in the propositus it showed patchy dense areas scattered all over the skull. No history of any abortion, still-birth or death was obtained from any member of the family.
It was noted that all the sibships showing the syndrome complete or in parts, had fits in their childhood but responded well to symptomatic treatment and now except for the propositus all are free from fits. All the sibships are having sebaceous overgrowth or pigmentations on the nose and cheek in a butterfly fashion. Some of the growths were big and pedunculated. (Plate la, b) In propositus' father electrodesiccation was done with good result.
The propositus (Pedi. II, gene. IV, No. 2) a girl of 22 years came to the eye department of the Angamali Hospital, for eye examination as she was having headache during reading. On external examination the presence of multiple sebaceous overgrowths, pinhead to pea sized, rounded, elevated papules and nodules of the same colour as that of the skin, on either side of the nose and cheek in a butterfly fashion (adenoma sebaceum was noted. Fundus examination showed nothing abnormal. Both the eyes were hypermetropic for which +0.751 sph. were prescribed. There was no history of fits in the past and X-ray skull was normal. Electrodesiccation was done for the growth with good result (Plate 2). Once again the family tree was traced and it was noted that the consanguinity was highly positive as they marry their first cousins.
The pedigree II (Plate 2) consists of four generations and two sibships. In generations I and II reliance had to be placed on family history and photographs as all had died. In generation III the propositus' mother was examined. She had typical sebaceous overgrowth on the face in a butterfly area. Ocular examination revealed nothing abnormal except for alternating divergent squint of about .30°. No. III, 1 a female child had died at the age of 8 years and the cause of death could not be traced. No. III the propositus' father was recorded as normal from his photograph as he had died. No. III, 4 was examined and was found normal. In generation IV, No. 1 the propositus' elder sister and her five cousins (Nos. 4-8) were examined and found normal. No. 3 the identical male twins were stillborn.
A boy, of 18 years attended the eye department of this Angamali Hospital, in May 1967. He had an overgrowth of right eye lids. The trouble started as a thickening of the upper right eye lid at the age of four years and since then it kept growing gradually to the present size. (Plate 3). His parents, one brother and two sisters were normal. No other member of his parents' family could be examined.
The right eye showed a pedunculated growth of upper and lower eye lids dragging the outer canthus downwards. The growth did not reduce on pressure. The cornea was normal. The anterior chamber was deep. Iris pattern was normal. Pupil was eccentrically situated at upper and outer quadrant, and was miotic which failed to dilate fully with atropin. Fundus through the semidilated pupil appeared normal. Visual acuity was counting fingers at one foot only. Intraocular pressure and movements of the eye ball were normal. Eye ball was deviated externally. Lacrimal apparatus was normal. The left eye was normal with visual acuity 6/6.
General examination revealed skull circumference of 25" with the right orbit on a slightly lower level than the left one. There were a few subcutaneous nodules on both the forearms and on the chest. Other systemic examinations revealed no abnormality.
As the patient was poor and could not go to the center for plastic surgery the growth was excised under general anaesthesia with the help of a general surgeon of this hospital. He was advised the second stage of the operation but he refused any further surgery.
| Discussion|| |
Tuberous sclerosis is a symptom complex characterised by adenoma sebaceum, mental retardation and epilepsy. The wide spread lesions include those (1) of skin; fibroadenoma of sebaceous glands over the nose and cheeks (butterfly area), "shagreen" or leathery patches, cafeau-lait and depigmented spots and sublingual fibromas; (2) in the viscera; hamangiomas or mixed tumors of kidney, liver and spleen, multiple tiny mixed tumors of lung associated with spontaneous pneumothorax and rhabdomyoma of heart sometimes causing cardiac failure; (3) in the eye; nodular or cystic lesions in the retina, most common being the slightly elevated mulberry like tumor mass which is about twice the diameter of optic disc and has a glistening yellowish white colour; (4) in brain; cortical and subependymal nodules which frequently calcify and are visible roentgenographically usually in the periventricular areas. The symptoms are epileptic seizures and mental retardation; (5) in bone; osteoporosis, thickenings, osseous islands and cysts.
The syndrome has high familial incidence and is inherited as a dominant trait, since it is common to find an incomplete form in one of the parents, unassociated with mental deficiency. In the present investigation of two families it is seen that the abnormal conditions were transmitted by the affected members to part of their offsprings, but the children of the unaffected members remained free. A typical case of the syndrome with all the components was seen in the family in which there was no history of consanguinity while the syndrome was in an incomplete form in the other family where the history of consanguinity was positive.
It has been thought that the incidence increases in successive generations and the condition deteriorates until the mutation becomes a lethal gene. For this reason particular inquiry was made for abortion or stillbirth in the family. There was no positive evidence of severely affected member who did not survive. But in pedigree II there was a definite history of one death at the age of 8 years and one still-birth. The cause in both these cases could not be traced so it cannot be said that the theory of deterioration was present in this present investigation, though the most severely affected was noted in the generation IV, the propositus in pedigree I.
Tumor formation in phakomatosis is congenital, multiple and hereditary familial. They are called associated tumors, specially associated with symptoms and pathologic alterations of central nervous system. Tuberous sclerosis has scattered gliomatous tumors of the cortex consisting mainly of astrocytes and has as an outstanding feature the association with adenoma sebaceum of the face, and also sometimes with other types of tumors in various organs of the body. In neurofibromatosis, there are multiple neurinomata of the cranial nerves and also of peripheral nerves. It is assumed that the neurofibroma originates from the fibrous nerve sheaths (endo - and perineurium). But there is another theory that the origin is from the ectodermal sheath cells of the nerve, the Schwann cells and thus making it a neuro-ectodermal tumor. It represents a congenital degeneration and is associated with hydrophthalmos due to the involvement of the ciliary nerves and the angle of anterior chamber. Elephantiasis nervorum (mollis molluscum) is a diffuse connective tissue proliferation of a certain region, as of the lid, the face, the tongue (hemilateral facial hypertrophy), originating from the nerve sheaths of the subcutaneous, submucous tissue. There may be a characteristic osseous defect, as in the case reported, displacement of right orbit downwards and enlargement of the circumference of the skull.
| Summary|| |
Two families affected by tuberous sclerosis are described. 46 members in one and 9 members in the other were traced, out of which 8 and 2 were found affected respectively. Increase in incidence or deterioration in successive generations could not be proved as all of the affected members in the last generation in both the families were unmarried and the cause of death and still-birth in the family II could not be traced.
A case of neurofibromatosis is also described, being under the same group of disorder. This present investigation only shows like many others reported from India that the disease is not so rare, as was thought before.
| References|| |
BRAIN, W. R., GREENFIELD J. G. and SUTTON, D.: Tuberous Sclerosis Brit. Encycl. of Med. Pract. Vol. V, p. 267, Butterworth, London (1951).
CHAKRAVORTY, A. N.: Adenoma Sebaceum. Calcutta Med. J. 48, 57, (1951).
CHAKRAYORTY, A. N., BANERJEE A. K. and GHOSH, S.: Pringles disease (Adenoma Sebaceum). Calcutta Med. J. 48, 57 (1951).
CHAKRAVORTY, H. S. and GHOSH, N. K.: Tuberous Sclerosis J. Ind. Med. Assn. 44, 379 (1965).
CHANDA N. K.: Tuberous Sclerosis. J. Ind. Med. Assn. 35, 215, (1955).
GANGULY, H., AGARWAL, H. S. and SINIIA A. K.: Tuberous Sclerosis. J. Ind. Med. 24, 290, (1955).
HERMANS E. H. GROSFELD J. C. M. and VALK L.E.M.: Nevus Epitheliomatodes multiplex, A fifth phakom.atosis, Nederl. tijdschr. geneesk. 103, 1795-1801 (1959). taken from: Year Book of Ophthal. p. 299 (1960-61).
ROY, H. K.: A case of tuberous sclerosis. Bull. Calcutta Sch. Trop. Med. 3, 93, (1955).
[Figure - 1], [Figure - 2], [Figure - 3], [Figure - 4], [Figure - 5]