The occurrence of ectodermal dysplasia and corneal dysplasia in one family

Kline, Allen H.; Sidbury, James; Richter, Curt P.

doi:10.1016/s0022-3476(59)80230-4

Cited by 33 publications

(8 citation statements)

References 13 publications

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“…Although Thannhauser (1946) stated that 'none of the numerous cases of ectodermal dysplasia reported in the literature exhibited either cataracts in infancy or in later life', in the following years several authors described congenital cataracts as the commonest ocular complication of ectodermal dysplasia (Gregory, 1955;Mankopf and Hanney, 1957;Marshall, 1958). Other complications include strabismus (Marshall, 1958), corneal anomalies (Kline, 1959;Jung, 1966), Reiger's dysgenesis (Gassler and Berthold, 1960), fibrous tissue in the anterior part of the vitreous, and chorioretinal atrophy (Gregory, 1955).…”

Section: Discussionmentioning

confidence: 99%

Anhidrotic ectodermal dysplasia with lacrimal anomalies.

Liakos¹

1979

British Journal of Ophthalmology

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SUMMARY Ectodermal dysplasia and its related disorders may present with ocular symptoms due to involvement of the ectodermal components of the eye. This paper reports a case of congenital anhidrotic ectodermal dysplasia presenting to the ophthalmologist with epiphora due to lacrimal atresia. The embryonic origin of the lacrimal system suggests that lacrimal anomalies in association with ectodermal disorders are commoner than reports indicate. Their management consists in accurate evaluation of the anomaly followed by surgery.Various forms of ectodermal dysplasia have been reported. They mainly affect the skin and its appendages, but occasionally the ocular structures are involved as well. The commonest ocular complications reported consist mainly of corneal, lenticular, and retinal changes. This paper reports a case of anhidrotic ectodermal dysplasia associated with lacrimal anomalies. Case reportA 12-year-old girl presented to the casualty department of the Southampton Eye Hospital complaining of epiphora, which was bilateral and present since birth. The patient had already been seen by an ophthalmologist, who diagnosed punctal atresia. Both lower lacrimal papillae were incised, which had been followed by probing. In spite of that procedure, epiphora remained constant.General examination showed the unmistakable stigmata of anhidrotic ectodermal dysplasia. These included scarcity of hair growth, particularly evident in the scalp, where the hair was scanty, brittle, and fair, with a small patch of baldness over the vertex, and receding hair line (Fig. 1). Sweat and sebaceous glands were entirely absent so that the skin was xerotic and hyperkeratotic, with hyperpigmented creases (Fig. 2). The nails were abnormal (Fig. 3), and the teeth were either absent or deformed. Her general physical development was poor and the height below average for her age.Ophthalmic examination showed very sparse eyebrows and eyelashes, the lateral two-thirds being

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Section: Discussionmentioning

confidence: 99%

Anhidrotic ectodermal dysplasia with lacrimal anomalies.

Liakos¹

1979

British Journal of Ophthalmology

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“…Cells of epidermal origin tend to aggregate in larger mosaic clusters than cells of mesodermal origin [Lyon, 1970]. This characteristic skin pat tern has been observed in women with Xlinked anhydrotic ectodermal dysplasia [Kerr et al, 1966;Kline et al, 1959;Pas sarge and Fries, 1973], A similar pattern is expected for G6PD deficiency heterozy gotes [Linder and Gartler, 1965].…”

Section: Discussionmentioning

confidence: 55%

A New Glucose 6-Phosphate Dehydrogenase Variant (G6PD Thessaloniki) in a Patient with Idiopathic Myelofibrosis

Koliakos

Kalomenopoulou²,

Grammatikos³

et al. 1989

Hum Hered

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A new deficient glucose 6-phosphate dehydrogenase (G6PD) variant, G6PD Thessaloniki, which was found in the red blood cells of a 70-year-old woman who had idiopathic myelofibrosis, is described. G6PD Thessaloniki had a low Michaelis constant (K_m) for G6P (20 µM), high K_m for NADP (10.1 µM), normal pH optimum, reduced heat stability, decreased electrophoretic mobility (96–98 % of the normal), increased 2-deoxy-G6P and decreased galactose 6-phosphate utilization. Several other enzymatic activities measured in the patient’s red blood cells were normal. Studies of red blood cell survival and glucose utilization gave evidence of haemolysis caused by defective glucose utilization by the pentose phosphate pathway. The only son of the patient had normal G6PD in his red blood cells. In an attempt to investigate the origin of G6PD Thessaloniki, heat stability tests of G6PD extracted from the patient’s skin have been performed.

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“…H e was the first t o realize the constant characteristics of the disease and called attention to the fact that it might be divided into two main groups. Kline et al [12] applied a sweat test utilising the change in the electric resistance of the skin on perspiration. A feature common to both groups was the defective development of the hair and teeth.…”

Section: Symp Tomatologymentioning

confidence: 99%

Hereditary Ectoderinal Dysplasia of Anhidrotic Type: A Report of Three Cases in Boys Aged 3–4 Months

Jespersen

1962

Acta Paediatrica

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The occurrence of ectodermal dysplasia and corneal dysplasia in one family

Cited by 33 publications

References 13 publications

Anhidrotic ectodermal dysplasia with lacrimal anomalies.

Anhidrotic ectodermal dysplasia with lacrimal anomalies.

A New Glucose 6-Phosphate Dehydrogenase Variant (G6PD Thessaloniki) in a Patient with Idiopathic Myelofibrosis

Hereditary Ectoderinal Dysplasia of Anhidrotic Type: A Report of Three Cases in Boys Aged 3–4 Months

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