W.P. de Groot

Detection of fabry hemizygotes and heterozygotes by measurement of α-galactosidase in urine

Abstract The determination of α-galactosidase in urine can be used as a simple method for the diagnosis of Fabry hemizygotes. The activity of this enzyme was related to that of N-acetyl-β-glucosaminidase. The ratio N-acetyl-β-glucosaminidase/α-galactosidase in urine was relatively constant in any one individual. In the control group, the mean value of this ratio was 7.4 (range 1.2–20.5). In Fabry hemizygotes (n = 6) the ratio was 50 or higher. Three types of carriers could be recognized, with high (n = 1), intermediate (n = 2) and normal (n = 3) values, so that with this procedure some of the carriers are detected.

Ito's hypomelanosis (incontinentia pigmenti achromians): A review of four cases

In 1952 Ito described the occurrence of a bilateral systematized depigmented nevus in a 22-year-old Japanese woman. He used the term incontinentia pigmenti achromians. The condition has been described under various designations, such as for instance Itos hypomelanosis. Till now 71 patients with this syndrome are described. We will report 4 cases, 2 boys and 2 girls, 2 Caucasian, 1 Indonesian and 1 Caribean child. The cutaneous signs in these 4 patients fit in with the syndrome of Itos hypomelanosis. Of these 4 children 3 are mentally retarded, 2 have epilepsy. Congenital malformations are seen in 3 children. Electronmicroscopy of skin biopsies of the hypomelanotic nevus and of the normal skin were performed. In the biopsy of the normal skin of one patient interruption of the basement membrane is seen. Anomalies of the central nervous system as seen in our patients occur in about 40% of the cases. Abnormalities of skin derivatives next to other ectodermal anomalies are described. Affection of other germ layers also occur to a varying degree. In our 4 patients some of these abnormalities exist also. These 4 cases are presented to underline the fact that this syndrome seems not to be as extremely rare as is proposed.

GENETIC ASPECTS OF THE THESAURISMOSIS LIPOIDICA HEREDITARIA RUITER-POMPEN-WYERS (ANGIOKERATOMA CORPORIS DIFFUSUM FABRY).

Author’s address: Dr. W. P. de Groot, Dermat. Kliniek, Binnen-Gasthuis, Amsterdam (Netherlands) Wise (1962) and Opítz (1963) assumed that this lipoidosis is inherited in an X-linked manner. Opítz states that it is incompletely recessive. To the pedigree I published elsewhere one patient (No. 31 in the pedigree) can be added, an 8year-old girl, whose father (No. 18) shows the fully developed picture of the disorder. The girl has no ‚♂ ‚♀ r 1⁄8=! ‚ . 3♀ 13♀ 27♂ «È < í 1⁄8 r3⁄8η Φ-7⁄8É7⁄87⁄8 1⁄8 7⁄8 28 29 30 = diagnosis certain jam + + DJ··f 19 20 21 22 ι–i L I a” Toû” symptoms, no hpoid present. F1⁄8. 1 22 Dermatologica, Vol. 129, No. 3 (1964) 282 De Groot clinical symptoms, but in a biopsy from the skin of the hip the lipoid was easily demonstrable by post-chromatic Scarlett-red or Sudan-Black staining. Moreover by slit-lamp examination the oculist (Prof. Velzeboer) detected the caracteristic corneal opacity. The ophthalmo-logical symptoms of all members of this family will be published in detail. In the pedigree: Transmission from father to son does not occur; as far as examined no unaffected daughters from male patients have been found; transmission from the mother is found to some of the sons as well as to some of the daughters. These facts are in accordance with an X-linked inheritance, but I agree that more members of the family have to be examined to conclude with certainty to this mode of inheritance. The lipoid is demonstrable in all patients male as well as female. The same holds true for the corneal opacities. The clinical manifestations however are scanty in most women. So the lipoidosis shows a dominant inheritance, but the clinical expressivity is feeble in most women.

The Value of Grenz-Ray Therapy for Acne Vulgaris

In view of recent efforts to eliminate the use of radiotherapy for benign conditions or conditions treatable by other means, to avoid the possible detrimental effects of radiation, an evaluation of this treatment of acne was made. In a controlled, double-blind study in 40 patients, one area of skin received 1800 r (in thrice weekly 100-r doses) of 10-kv x irradiation. Comparable areas of skin were shamirradiated with the x-ray apparatus shielded by lead. In no case had the acne cleared up on the irradiated side. ln about half of the cases no difference was seen between the two areas. The remaining showed a systematic difference in favor of the treated side 2-6 weeks after treatment. However, in the majority of cases no improvement attributable to grenz-ray irradiation could be ascertained. It is concluded that grenz-ray therapy of acne, at least at the dosage used, is ineffective. At these doses, inhibition of sebaceous gland secretion would not be expected to occur. Severe erythema followed by peeling was not seen in these patients.