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Biomedical subjects

D de Berker

Publications and source records attributed to D de Berker.

36 records · Page 2Linked to original sources
PubMed1995

Trichothiodystrophy with sideroblastic anaemia and developmental delay.

A patient with sideroblastic anaemia, development delay, and trichothiodystrophy is presented. Trichothiodystrophy is a feature of several autosomal recessive diseases. Photosensitivity, failure to thrive, and developmental delay are commonly observed in affected cases. X linked inheritance accounts for the bulk of cases with sideroblastic anaemia. This case highlights the importance of routine hair microscopy in cases of atypical ectodermal dysplasia.

Anemia, Sideroblastic↗
PubMed1994

Nail features in Langerhans cell histiocytosis.

We report the case of an infant who presented with isolated cutaneous manifestations of Langerhans cell histiocytosis before the evolution of systemic features. In the transition period, at 9 months of age, nail unit changes became prominent, and persisted throughout the duration of systemic treatment. A change in clinical features coincided with a course of systemic gamma-interferon, which was given because immune paresis was suspected. Nail unit changes are rare in Langerhans cell histiocytosis, and this case illustrates the range of findings, including paronychia, nail fold destruction, onycholysis with subungual expansion, and nail plate loss. The significance of these changes as a prognostic indicator is controversial.

Histiocytosis, Langerhans-Cell↗
PubMed1994

Syndromes associated with trichothiodystrophy.

Sparse, brittle, sulphur-deficient hair is an excellent marker for several autosomal recessive neurocutaneous syndromes. The term 'trichothiodystrophy' is commonly used in publications on such syndromes and the best characterized trichothiodystrophy syndrome is associated with skin photosensitivity and intellectual impairment. Patients with these three cardinal signs usually have an underlying DNA repair defect. Here we describe clinical and laboratory findings in two patients with trichothiodystrophy and defective DNA repair alongside findings in three other cases who have different trichothiodystrophy syndromes without defective DNA repair. These patients' features are discussed in the light of a practical classification scheme which is based upon a check-list of clinical abnormalities associated with trichothiodystrophy syndromes (Van Neste, 1991).

Adolescent↗
PubMed1993

Fatal keratitis ichthyosis and deafness syndrome (KIDS). Aural, ocular, and cutaneous histopathology.

We report a case of KID (Keratitis, Ichthyosis, and Deafness) syndrome in which the patient died at the age of 2 months. Detailed histological study of the affected organs, particularly the inner ear and external auditory meatus, was performed. This case is the first in which previously described principles relating to the biology of the ear canal epithelium have been applied to a patient with skin disease affecting this area.

Deafness↗
PubMed1992

Variations in the beading configuration in monilethrix.

Using information from a light microscope integrated with a computer, we quantified the variation in node and internode dimensions in monilethrix. We combined this with rate of growth measurements in individual hairs to make the following conclusions. There is considerable variation of node and internode configuration within single hairs. Hairs from the same scalp, sampled at the same time show no mutual coordination of node-internode formation, even when different growth rates are taken into account. There is no apparent correlation between the day-night cycle and the node-internode rhythm. The follicular expression of monilethrix appears largely independent of unifying systemic influences.

Adult↗
PubMed1992

The sequelae of chronic cutaneous lupus erythematosus.

Eighty-six patients with chronic cutaneous lupus erythematosus were examined. Twelve of these also suffered from systemic lupus erythematosus. The mean duration of the disease was 15.1 years. Fifty-seven percent of patients (49/86) had scarring of some kind producing destruction and deformity; 47% (41/86) had scarring of glabrous surfaces and 35% (30/86) had scarring alopecia; 35% (30/86) were also suffering from pigmentary disturbance. The details and treatment of these and other non-scarring sequelae are discussed.

Adult↗
PubMed1991

Monilethrix treated with oral retinoids.

We report a childhood case of monilethrix in which oral etretinate was given. Clinically, the cosmetic benefit was marginal. However, of note was that there was an increase in hair length with loss of beading along the shaft of these hairs. The background scalp appearance of keratosis pilaris persisted in these areas. This suggests that the beading alone is influenced by etretinate and is not solely an artefact secondary to the hyperkeratotic condition at the follicular opening.

Administration, Oral↗