Congenital immune deficiency states and ectodermal disease

Volume 91 Number 1

Letters to the Editor

We agree the cerebrospinal fluid (CSF) measles complement fixation (CF) antibody titer is highly suggestive of SSPE, but we cannot accept the suggestion that the serum/CSF antibody ratio of 125/1 "may be compatible only with passive transfer. . . . " Several of the 13 cases of SSPE reported by Kipps and associates 1 had serum/CSF ratios of this order. Furthermore, seven cases of acute measles encephalitis were reported and none had measles antibody titers higher than 2 in the CSF, although serum values were quite high. Multiple sclerosis is extremely rare in South Africa and is probably unheard of in an infant, but it may be interesting to speculate whether a slow measles infection may show itself as SSPE in the child and as multiple sclerosis in a young adult. We have not used the hemagglutination-inhibition test in our laboratory since we agree with Sever and associates~ that the CF test for measles antibody in the CSF is the single most valuable determination. Certainly it is more diagnostic than a suggestive electroencephalogram. Drs. Modlin, Halsey, and Herrmann have not cited the observations of Detels and associates:~ as fully as we did in the discussion of our case, but it so happens that our (unpublished) findings from a survey of results in SSPE in South Africa point to the same conclusion as the (unpublished) data of your correspondents. E. Bhettay Department of Paediatrics & Child Health A. Kipps M.R.C./U.C.T. Virus Research Unit R. McDonald Department of Paediatrics & Child Health Institute of Child Health University of Cape Town South Africa

REFERENCES 1. Kipps A, Naud6 W du T, Smith T, Mackenzie DJM, and McDonald R: Measles antibodies in the serum and cerebrospinal fluid in SSPE, S Aft Med J 49:10, 1974. 2. Sever JL, Krebs H, Leyy A, Barbarosa LH, and Rubinstein D: Diagnosis of SSPE, the value and availability of measles antibody determinations, JAMA 228:204, 1974. 3. Detels R, McNew JA, and Edgar AH: Further epidemiological studies in SSPE, Lancet 2:11, 1973.

Congenital immune deficiency states and ectodermal disease To the Editor: A recent paper' in TRE JOURNALdid not discuss the association between various congenital immune deficiency states and diverse expressions of ectodehnal disease, and the single relevant reference provided-' mentions only cartilage-hair hypoplasia briefly. For these reasons, I was prompted to review my personal literature file on the association.

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Abnormalities of hair or skin, or of both, may coexist with cellular, humoral, or combined immunodeficiency,3. ~ and in the presence:~or absence5 of short-limbed dwarfism. The ectodermal involvement may ~ or may not 1 ~ be congenital. Postnatal onset and the occurrence of skin and hair lesions in patients with chronic graft versus host disease have been interpreted to support the secondary origin of ectodermal defects found in association with congenital immunodeficiencyT: in favor of their primary origin are the concomitant dental malformations in one patient? the sensorineural hearing loss in another, 1 and the occurrence of alopecia in the absence of inflammatory cellular infiltrate.' The recent demonstration of deficient cellular immunity in patients with anhidrotic ectodermal dysplasia and a history Of lichenified dermatitis indistinguishable from atopic dermatitiss strongly favors the view that at least some syndromes of congenital immunodeficiency have ectodermal involvement on a primary basis. The ectodermal dysplasias may be classified not only according to their cardinal (integumentary and dental) components? but also in terms of such "associated" features TM as sensorineural deafness, oral-facial anomalies, hand/foot defects, and generalized skeletal dysplasia. Their occasional association with congenital disturbances of the immune system provides a new dimension for their classification and a provocative aspect for their investigation. Leonard Pinsky, M.D. l'Institut Lady Davis Centre Hospitalier Jewish General Montreal, P.Q, Canada REFERENCES 1. Ipp MM, and Gelfand EW: Antibody deficiency and alopecia, J PEDIATR 89:728, 1976. 2. Rook A, Wilkinson DS, and Ebling FJD, editors: Textbook of dermatology, Oxford, 1972, Blackwell Scientific Publications, p 1599. 3. Ammann AJ, Sutliff W, and Millinchick E:: Antibodymediated immunodeficiency in short-limbed dwarfism, J PEDIATR84:200, 1974. 4. Duffey DH: Short-limbed dwarfism--possibly metaphyseal chondrodysplasia-with immunoglobulin deficiency, Birth Defects 10:445, 1974. 5. Feigin RD, Middlekamp JN, Kissane JM, and Warren R J: Agammaglobulinemia and thymic dysplasia associated with ectodermal dysplasia, Pediatrics 47:143, 1971. 6. Gatti RA, Platt N, Pomerance HH, Hong R, Langer LO, Kay HEM, and Good RA: Hereditary lymphopenic agammaglobulinemia associated with a distinctive form of shortlimbed dwarfism and ectodermal dysplasia, J PEDIATR 75:675, 1969. 7. Gatti RA, and Good RA: Development in bone, blood, and immunity, N Engl J Med 282:276, 1970. 8. Davis JR, and Solomon LM: Cellular immunodeficiency in anhidrotic ectodermal dysplasia, Acta Derm Venereol (Stockholm) 56:115, 1976. 9. Freire-Maia N: Ectodermal dysplasias, Hum Hered 21:309, 1971.

10. Pinsky L: The community of human malformation syndromes that shares ectodermal dysplasia and deformities of the hands and feet, Teratology 11:227, 1975.