Dégénérescence tapéto-rétinienne dans un cas de syndrome de Sjögren-Larsson (hyperkératose ichtyosiforme congénitale, diplégie spastique, retard mental) avec dysplasies osseuses et ectodermiques associées à une «incontinentia pigmenti histologica»

A 59‐year‐old man was referred to us for evaluation of a rough scaly skin and an abnormal gait of undetermined duration. He had been noted at birth to be covered with thick, dark scales over much of his body, and also he had developed displacement of the femoral head out of the right acetabular socket. He had a strong family history of ichthyosis, implying an X‐linked feature. No other members of the family were known to have musculoskeletal abnormalities. Initial examination revealed large, thick, ichthyotic scales over much of the body, including the preauricular areas and flexure surfaces of the extremities, with sparing of the palms and soles. When he stood up straight, he had to bend the left knee joint, because of apparent shortening of the right leg (Fig. 1). A shambling gait was evident. There were no accompanying symptoms, such as anosmia, hypogonadism, mental retardation, or short stature. Histopathology of the skin demonstrated hyperkeratosis and a conspicuous granular layer of the epidermis. Roentgenograms of the hip disclosed a marked lateral and upward displacement of the head of the right femur (Fig. 2). The spine revealed scoliosis. Epiphyseal dysplasia was not found. A commercial assay for steroid sulfatase demonstrated a deficient enzyme activity of lymphocytes. We made a diagnosis of X‐linked ichthyosis associated with congenital dislocation of the hip. The patient has had no operative therapy to date. 1 Standing pose with the left knee joint bent. Large, thick, ichthyotic scales cover the buttocks and the legs 2 X‐ray findings of the hip. A marked displacement of the right femoral head

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Sjögren‐Larsson syndrome in Sweden. A clinical, genetic and epidemiological study

Jagell

‐Henrik

Holmgren

1981

Clinical Genetics

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Sjögren‐Larsson syndrome (SLS), originally described in Sweden, has been studied in a countrywide survey. A total of 58 SLS patients in 41 families were traced, 35 of them still alive. Thirty patients, 23 alive and seven deceased, have not been reported earlier. The mean incidences per 100,000 in the years 1901–1977 were 0.6 in the whole of Sweden, 10.2 in the county of Västerbotten and 2.7 per 100,000 in the county of Norrbotten. In the above‐mentioned areas, the prevalence figures for SLS on 31st December 1978 were estimated to be 0.4, 8.3 and 2.6 per 100,000 persons, the frequencies of SLS gene carriers 0.5, 2.0 and 1.0%, and the gene frequencies 0.002, 0.010 and 0.005, respectively. Of the 58 identified Swedish SLS patients, 45 were born in a restricted area in the northeast of Sweden.

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Dégénérescence tapéto-rétinienne dans un cas de syndrome de Sjögren-Larsson (hyperkératose ichtyosiforme congénitale, diplégie spastique, retard mental) avec dysplasies osseuses et ectodermiques associées à une «incontinentia pigmenti histologica»

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Sjögren-Larsson Syndrome

Sjögren-Larsson Syndrome

X‐Linked ichthyosis associated with congenital dislocation of the hip

Sjögren‐Larsson syndrome in Sweden. A clinical, genetic and epidemiological study

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