TUBEROUS SCLEROSIS: A SURVEY OF 97 CASES. 1 1 : PHYSICAL FINDINGS

Ann Hun1

The classical triad of symptoms of tuberous sclerosis comprises epilepsy, mental retardation and the facial rash of adenoma sebaceum. However, the symp- toms vary in number and degree. 'Some individuals have only the facial angio- fibromata and no neurological dys- function, while others, because the facial rash never develops beyond a few minor blemishes, are treated for epilepsy for several years before tuberous sclerosis is diagnosed. These problems in diagnosis are important because of the family implications of transmission of tuberous sclerosis as a dominant gene.

Method This paper summarises the physical findings related to skin disorders and renal problems of 97 individuals with tuberous sclerosis, determined by means of a questionnaire (see Part I ) .

Results Skin disorders Although facial angiofibromata are in- cluded in the triad of symptoms of tuberous sclerosis, since the work of Pampiglione and Moynahan (1976) more emphasis has been given to the appearance of depigmented skin macules. Confirming that finding, depigmented patches were the most common skin lesion, reported in 92

(95 per cent) of cases (Table I). Adenoma sebaceum was reported in 78 cases (80 per cent) and shagreen patches in 47 (48 per cent). Other physical signs included cuf6-u~- lair patches, white hair patches (poliosis), bald areas on the scalp (often associated with thickened bumps), other osseous lesions not on the skull, skin tags on the neck, cysts on the head and fibromata of t!ie tongue and gums.

The occurrence of skin lesions varied with age (Table 11). Two of the three most common problems-depigmented spots and shagreen patches-were noticed at birth. 13 children were reported to have white patches a t birth, and a total of 46 had them by age two years. Raised skin patches, presumed to be shagreen patches, were observed in eight children at birth and in 29 by six years of age. Adenoma sebaceum, however, was not apparent a t birth. Initially this rash appears on the face as small red spots, which may be transient, but the spots later develop into the angio- fibromata associated with the adolescent picture of tuberous sclerosis. However, 43 children were reported to have had a rash by six years of age, but 17 of the 19 cases without adenoma sebaceum were less than six years old when this study was done.

Renal problems Although Robbins and Bernstein (1979)

observed that the majority of‘ patients with tuberous sclerosis will have renal angio- lipomata, and that the incidence increases with age, it was rare for the children in this survey to have received routine investig- ations for kidney lesions. In this sample four had polycystic kidneys, one of whom had a kidney removed at six years of age.

Discussion Because mental retardation and epilepsy are so consistently associated with tuber- ous sclerosis, this diagnosis might not be considered when a child presents with only a persistent facial rash, which may appear to be acne. Gomez (1979) reported that 12 per cent of his sample were free of epilepsy and mental retardation. Facial angio- fibromata therefore can imply tuberous sclerosis, even if there are no neurological deficits.

Better dermatological diagnostic criteria are the white skin patches which occurred in 95 per cent of this sample. Sometimes these can be noticed at birth, but they become more definite after exposure to sunlight. Often they are only noticed when an ultraviolet light source is used, and may be less obvious among adults who have not been exposed to prolonged sunlight.

Both facial angiofibromata and sha- green patches had been noticed in quite young children, and these lesions increased in size and number with age. However, the incidence of cafk-au-lait patches did not differ from that for the general population (Burwell et a/. 1982).

Author.’.! Appointment Ann Hun t , B.A., Research Worker, Human Development Research Unit . Park Hospital for Children, Old Road, Headington. Oxford OX3 7LQ.

SUMMARY

TABLE I

Physical findings (excluding epilepsy)

Physical ,fFnding.r Frequent-v (N = 97)

Depigmented patches Adenoma sebaceum Raised skin (shagreen) patches Cafi-uu-lair patches White hair patches Retinal phakomaleye problems Bald areas, often with thickened bumps Sunbungual fibroma Skin tags on neck Osseous lesions, not o n skull Kidney involvement Cysts: eyelid, earlobe, in nose Gingival f ibroma

92 78 47 24 16 13 12 9 6 5 4 4 2

TABLE I I

Age at which common skin prc ~ -.ms first noticed

Skin problem Shagreen

Age Depi‘pmented Adenoma (raised skin) ( . w ) patches sebnceum patche.7

Birth <2 2- 5 6-10

X I 3 -

6 12 5 4 2 11-15 - 2 16-20 -

Not recorded 26 17 II

Totul 92 78 47

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Physical sign% excluding epilepsy. were studied in 97 individuals wlth tuberous sclerosis. While the red facial rash (adenoma sebaceum) is taken to be one of the classic symptoms, depigmented skin macules were more common. The depigmented patches and raised areas (shagreen patches) appeared in early childhood, and sometimes were present a t birth. Other skin problems were common. Although the tuberous sclerotic lesions are known also to cause kidney problems, few individuals had been examined thoroughly t o detect these difficulties.

RESUME .~ctbr.o.w tuhircwsr: f5iudfJ df, 97 cu\. 11. I)onn&! phj,tiyuc.\ LKS signes physiques, 6 I’cxception de I’~pilepsie. ont i t 6 btudiks chez 97 individus presentant une aclkrose tub6rKuse. Alors que le rash facial rouge ( a d h o m e skbact.) e\t consider& comme I’un des signes c h s i q u e s , les macules c u t a n k s d6pigmentkes sont apparues plu\ frbquentes dans cette etude. Les taches dipigmentees et les zones surklevkes (peau de chagrin) apparaissent dans la petite enfance et sont quelque fois presentea dks la naissance. Lcs autre) manifestations cutankes sont Irkquentes. Alors que lcs Ik ions de sclerose tubereuse sont rkputees provoquer des problkmcs r inaux. peu d’individus dans cette i tude ont benificii d‘examens approfondis pour rechcrchcr C K \ t rouble\ .

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ZUSAMMENFASSUNG Tuber6.w Sklerose: ein Llberblick uber 97 Falle. 11: Klinixhr tletu:firnde Bei 97 Patienten mit tuberoser Sklerose wurden die klinischen Befunde untersucht, die Epilepsie nicht eingeschlossen. Wahrend der rote Gesichtsausschlag (Adenorna sebaceum) als eins der klassischen Symptome angesehen wird, fanden sich bei den Patienten dieser Studie haufiger depigmentierte Hautflecken. Die depigmentierten Flecken und erhabenen Areale (Chagrinleder-Flecken) traten im fruhen Kindesalter auf und waren bei einigen schon bei der Geburt vorhanden. Auch andere Hautprobleme waren haufig. Obwohl bei der tuberosen Skelerose auch Nierenprobleme vorkommen, wurden nur wenige der Patienten sorgfaltig daraufhin untersucht.

RESUMEN Esclerosis tuberosa: estudio de 97 casos. 11: Hallazgos flsicos Se estudiaron 10s signos fisicos. con exclusion de la epilepsia, en 97 individuos con esclerosis tuberosa. Mientras que la pigmentation roja de la cara (adenoma sebaceo) es considerado como uno de lo!, hignos clasicos, en el presente estudio eran mas frecuentes las manchas despigmentadas de la piel. Las ionas despigmentadas y las areas elevadas (‘piel de chagrin’) aparecieron en la primera intancia, y en ocasionea estaban presentes ya al nacer. Eran corrientes otros problemas cutaneos. Aunque se conoce que la esclerosis tuberosa puede causar problemas renales, s61o han sido estudiados en la presente serie unos pocos cases de forma completa para detectar estas dificultades.

References Pampiglione, G., Moynahan, E. J . (1976) ‘The Burwell, R. G., James, N. J . , Johnston, D. I. (1982) tuberous sclerosis syndrome: clinical and EEG

‘Cafe-au-lait spots in children.’ Archives ofDisease in studies in 100 children.’ .Journal qf Neurolo~yy, Childhood, 57, 631-632.

Gomez, M. R. (1979) ‘Clinical experience at the Robbins, T. O., Bernstein. J . (1979) ‘Renal Mayo Clinic.’ In Gomez, M. R. (Ed.) Tuberous involvement.’ In Gomez, M. R. (Ed.) Tuberous Sclerosis. New York: Raven Press. pp. 16-20.

Neurosur~Fery and Psychiarry. 39, 666-673.

Sclerosis. New York: Raven Press. pp. 143-154.

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