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ARTICLE
Year : 1968  |  Volume : 16  |  Issue : 3  |  Page : 127-133

Ectodermal dysplasias


Little Flower Hospital, Angamali, Kerala, India

Date of Web Publication24-Dec-2007

Correspondence Address:
S P Shukla
Little Flower Hospital, Angamali, Kerala
India
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Source of Support: None, Conflict of Interest: None


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How to cite this article:
Shukla S P. Ectodermal dysplasias. Indian J Ophthalmol 1968;16:127-33

How to cite this URL:
Shukla S P. Ectodermal dysplasias. Indian J Ophthalmol [serial online] 1968 [cited 2020 Jul 5];16:127-33. Available from: http://www.ijo.in/text.asp?1968/16/3/127/37535

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 [7] ). 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 [1] but in recent years, quite a few cases were reported by Indian work­ers CHAKRAVORTY, BANNERJI AND GHOSH [2] . ROY [8] CHANDA [5] GANGULI, AGRAWAL AND SI­NHA [6] and CHAKRAVORTY AND GHOSH, [4] . 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.

Case I.

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.

Case II

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.

Case III

(NEUROFIBROMATOSIS)

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 Top


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 Top


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 Top

1.
BRAIN, W. R., GREENFIELD J. G. and SUTTON, D.: Tuberous Sclerosis Brit. Encycl. of Med. Pract. Vol. V, p. 267, Butterworth, London (1951).  Back to cited text no. 1
    
2.
CHAKRAVORTY, A. N.: Adenoma Se­baceum. Calcutta Med. J. 48, 57, (1951).  Back to cited text no. 2
    
3.
CHAKRAYORTY, A. N., BANERJEE A. K. and GHOSH, S.: Pringles disease (Adenoma Sebaceum). Calcutta Med. J. 48, 57 (1951).  Back to cited text no. 3
    
4.
CHAKRAVORTY, H. S. and GHOSH, N. K.: Tuberous Sclerosis J. Ind. Med. Assn. 44, 379 (1965).  Back to cited text no. 4
    
5.
CHANDA N. K.: Tuberous Sclerosis. J. Ind. Med. Assn. 35, 215, (1955).  Back to cited text no. 5
    
6.
GANGULY, H., AGARWAL, H. S. and SINIIA A. K.: Tuberous Sclerosis. J. Ind. Med. 24, 290, (1955).  Back to cited text no. 6
    
7.
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).  Back to cited text no. 7
    
8.
ROY, H. K.: A case of tuberous scle­rosis. Bull. Calcutta Sch. Trop. Med. 3, 93, (1955).  Back to cited text no. 8
    


    Figures

  [Figure - 1], [Figure - 2], [Figure - 3], [Figure - 4], [Figure - 5]



 

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