~dlon .7. Pedlar. 43; 284, 1976
M.S. M^D^N, P.V. J^r;^K b D.S. SVaAOKAR ^SD N.K. T i w ^ m Bhilai
Anhydrotic ectodermal dysplasia is a developmental anomaly. T h e patients generally present with a congenital d e a r t h or absence of sweat glands, m a r k e d dental dysplasia, thin, g l o r y , smooth a n d dry skin, alterations of the nails, either hypoplasia or pachyonychla, a n d intolerance of heat. Most of the authors have described the t r i a d of anhydrosis, dystonia a n d hypotrichiasis w h l e h are the characteristic features o f t h i s disease , e e n m a i n l y in males. It is a genetically d e t e r m i n e d syndrome. The disease it i n h e r i t e d in two forms, i.e., anhydrotic a n d hydrotie. T h e former entity shows recessive inheritance with males more c o m m o n l y affected t h a n females. I n a n occasional family there may be a domin a n t form of inheritance. I n I n d i a only a few isolated cases have b e e n r e p o r t e d ( M e h t a et aL 1963, Bhogaonker a a/. 1968, M o h a n t a a ai. 1970). T h e e x t r e m e r a r i t y o f this a n o m a l y p r o m p t e d us to publish these two cases which we have come across i n the M a i n Hospital of the Bhilai Steel Plant in the last 14 sea~s. O n e of our cases had bilateral equinovarus defect. Report
Case 1. D.R. aged t 8 years, male, was first b r o u g h t to us at the age of 7 years for absence o f t e e t h a n d hair. He was a g a i n a d m i t t e d w i t h the c o m p l a i n t s of inability to *From the Department of Paedlatrics, Bhilal Steel Plant Hospital, Bhilai. Received on November 29, 1975.
b r e a t h properly t h r o u g h the nose, foul sn from his mouth, scanty tears, n o sweat a n d slight p".~ oozing from the gums. gums also bled a n d h a d b e c o m e pain O n e x a m i n a t i o n , he was pale, sp wi, h a nasal twang, has depressed bridg the nose a n d absence of eyebrows. ha';r was seen on the scalp. He h a d I~ ears, the gum margins were irregular there was n high a r c h e d palate. No axill or pubic h a i r was found. T h e nails normal. T h e skin was smooth, s o b dry. He h a d no b e a r d or axillary h He did not sweat e v e n in hot w e a t h e r did not feel c o m f o r t a b l e in hot envh ments. He h a d a corneal opacity in left eve. (Plate I I I , Fig. 1). Routine investigations d i d not re, any a b n o r m a l i t y . X - r a y of the j a w s sho, only deciduous teeth. T h e skin bic showed absence of sweat a n d sebac~ glands a n d no hair follicles were seen. M . K . aged 7 months, male, a d m i t t e d to this hospital on 25th M a 1975, with history ol fever a n d cough of m o n t h ' s duration. This case was refe to us by a general p r a c t i t i o n e r with history of recurrent bouts of fever r e s p h a t o r y tract infection o f one mot duration. I n spite of all the antib;( used by the doctor, the p a t i e n t did respond. T h e child was the product of a full-t n o r m a l delivery. T h e b i r t h weight 2.6 kg. His milestones were within nol limits, except for eruption of teeth.
I.qi~IAN JC~UI(/~AI. O1t !'!t,!.~!'~'T'l~Tf:,k
Fig. 1. Absence o f s c a l p hair, eyebrows, eye lashes and t e e t h . "Fhefe is a corneal opacily on the left side.
MADAN ET AL.--ANHS.'DROT1C ECTODERMAL DYSPLASI.~.
IJLA'I'I': II I
|ADAN R T AL.~ANIIVDR~)rtc
mrents were not related to each other, .:tis other 6 tib]ings were healthy and their =ilestones were within normal .qmits. O n e x a m i n a t i o n , the p a t i e n t wa~ a '~ixly active child with slight puffiness of he eyes, sparse, thin a n d silky h a l t over the calp, the eyebrows were absent a n d the eye ashes were scanty. No teeth were seen. .-/.e h a d p r o m i n e n t supra-orbital ridges with depressed nose a n d thick lips. T h e skin vas : m o o t h a n d dry. T h e nails a n d nipples ,~e~e n o l m a l , l i e h a d bilateral talipes :q, xinovatnas. i I e did not h a v e any tears while crying md did not sweat even in hot weather. :-tis m e n t a l a n d physical d e v e l o p m e n t was ~'ithin n o r m a l limits. R o u t i n e investiga, ions were normal. K-ray of the jaw did not show any tooth )uds. T h e skin biopsy showed that the ~pidermis was t h i t k a n d flattened a n d ,weat glands were absent. Apoerine glands, mir follicles a n d sebaceous glands were also tbsent. D e r m a l counectiv, 9 tissue a p p e a r e d aormal but collagen a n d elastic fibres were ?ragmented a n d sparse. Discussion T h e cases r e p o r t e d above had classical Features of this disorder, i.e. anhydrosis. :lysdontia a n d hypotrichiasis. All the ~tructures which are derived from the ectoderm c a n be involved in this disorder i.e. skin, mucous m e m b r a n e s of the nose. mouth, sweat glands, sebaceous glands. lacrimal glands, salivary glands, hair. teeth, nails a n d at times the C.N.S. W h e n the triad of anhydrosis, dysdontia a n d hypotrichiasls is present, there is n o difficulty in diagnosing it. T h e defective e c t o d e r m a l d e v e l o p m e n t probably arises in the 8th to the 12th week
of emhryonic life w h e n epidermal a p p e n dages are being differentiated. T h e facies are often so characteristic of the affected persons, that they a p p e a r to be siblings. Jespersen (1962) noted lack o f cases diagnosed in the first year of llfe. M a n y such cases m a y be m[sdiagnosed as pyrexia of u n k n o w n origin (as in our second case) unless there is a family history to suggest the disorder. T h e pathological findings include marked aplasia or hypoplasia o f the sweat glands, tooth buds a n d other e p i d e r m a l appendages. Dermal tissues are mostly normal but collagen a n d elastic fibers m a y be fragmenled or sparse. Poor d e v e l o p m e n t of the mucous glands in the respiratory a n d gastrointestinal tracts is described a n d hence these cases are more prone to get respiratory tract infections which may cort:ribute to dysphagia. I n our cases, the eyes were dry a n d there w, re no tears because of hypoplasia of the laerima! g!ands. I n the first case, t h e patient h a d depressed no~e, chrome rhinitis a n d a nasal t w a n g because of atrophy o f nasal mucous glands. Hypotrichiasis is another characteristic feature ~ h i c h has been described by m a n y authors. Scalp hair and eye brows are absent or sparse. Both these features were found in our cases. T h e first case h a d no beard, pubic or axillary hair. Some of the authors have m e n t i o n e d dystrophy of the nails in either sex, but we failed to find this in o u r ca~e~. l-here is absence of or scanty sweat glands, which are often r u d i m e n t a r y and responsible for absence of sweating. Because of this it is very difficult for them to regulate the body t e m p e r a t u r e in hot weather a n d some of these cases either get
VOL. 43, NO, 3
INDIAN JOURNAL Olt' PEDIATItlCS
febrile convulsions or die due to heat exhau.~ tion in hnt weather. Our patients did c o m p l a i n of feeling uncomfortable in the s u m m e r months. A case with patchy and asymmetrical defect in perspiration and hair growth has been reported. Another classical case has been reported by Lorber (1964) in a chi!d of 3 years. He showed failure of development of hair, teeth, sweat and sebaceous glands and absence of nipples. Our first case had no teeth though he was 18 years old. He had four to six deciduous teeth which could be seen only in the X-ray. T h e other child had not erupted any teeth so far and the X-ray did not show any tooth buds. Abnormali'ies of the eye lens or coruea have also been mentioned e.g. cataract or subluxatlon. Our first case had corneal opacity. T h e diagnosis is rarely m a d e till the child is old enough to show absence of hair and delayed tooth development, for which the parents may bring the patient to the doctor. Sometimes the infant may pres~ nt as a case of pyrexia o f unknown origin. Family hi.story, clinical features and X-ray of the jaws are helpful to diagnose this condition. T h e skin biopsy is confirmatory. M a n a g e m e n t of anh}drotic ectodermal dysplasia consists o f p r o m p t recognition, specially in the neonatal period. Avoidance of exposure to excessive heat during
hot weather by keeping ~uch children hi cool atmos0here or w r a p p i n g wet she around the body helps. T h e use of sup fatted ;oaps is r e c o m m e n d e d in such cas g~,, ' . . . . . . . . . . c,f wigs ;s reco mended. For saddle-nose, plastic surg~ should be undertaken. Early dental pr thesis is r e c o m m e n d e d for normal deveh merit of the maxillae and m a n d i b l e a also to give a good a p p e a r a n c e to 1 patient. They should avoid strenu< exertion and suitable occupation should provided. It is advisable (or such p a r l e not to have child~eJ~. We are thankful to the Chief Medical Of~ccr, D.C. Sen, for permitting us to publish this article. Ref 9
Bhogaonkar. A. and Khanna, S K. (I~ Anhydrot~c ectodermal d~splasia. Indian 07. Pc 35, 270.
Bai, indira (19697. Anhydrotic ectodermal dyt PedtaI. C~inies India, 4, 381 Jesperson, H.G. d062). Hereditary eetodet dyspla_~m of the anhydtotic t.~pe. ActaPedial. S 51, 71~. Lorber,J. (1964). Anhydrotic ectodermal dy sia. P~or Roy. $oc. Mid. 57, 116. Mathur, GP. GuFta, M C. ard Rahi, S.'l! Anhydrotic ectodermal dysplasia, lrd:an Pedlar 4, Mehta, R.S, Gupta, S.R. and Sdmml, I.K.(I Congenital anhidrotic syndrome. .7. India• Mid. sia.
IMohanta, K D , Kar, S. and Nanda, S (1' Hereditary anh'~drotic ectodermal dy~plasia. I Itdiat 7, IS6.