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N P Khumalo

Publications and source records attributed to N P Khumalo.

10 recordsLinked to original sources
PubMed2006

Poikiloderma, tendon contracture and pulmonary fibrosis: a new autosomal dominant syndrome?

Members of two generations of a South African family have a unique syndrome comprising poikiloderma, tendon contractures and progressive pulmonary fibrosis. The condition is clinically important as the skin changes, which involve the face, have considerable cosmetic impact, while lung involvement is potentially lethal in adulthood. Skin manifestations which facilitate diagnosis include facial telangiectasia, mottled hypo- and hyperpigmentation, papules and epidermal atrophy. The scalp, facial and body hair are fine and scanty. The tendon contractures lead to progressive digital flexion deformities and abnormalities of the ankles and feet, with disturbance of gait. Pulmonary involvement manifests as progressive dyspnoea. Pedigree data are compatible with an autosomal dominant mode of transmission. Poikiloderma of Weary is characterized by linear sclerotic and fibrous bands and not tendon contractures and is not associated with potentially lethal pulmonary fibrosis. Rather than name this disorder a variant of Weary syndrome, it might be prudent to use as an umbrella title one composed by Weary himself: 'hereditary sclerosing poikiloderma' (HSP), under which variants such as HSP Weary type, HSP with cardiac involvement (aortic stenosis described as inconsistently associated with Weary syndrome) and HSP with tendon/pulmonary involvement (current family) may be classified. The manifestations in this family differ from other poikilodermata and, to the best of our knowledge, have not been previously documented.

Adult↗
PubMed2005

Apparent fragility of African hair is unrelated to the cystine-rich protein distribution: a cytochemical electron microscopic study.

A feature of black African hair is an apparent increased fragility of the hair shaft compared to other ethnic groups (as measured by the tensile force needed to break the hair fibre). This has certain similarities to that reported for trichorrhexis nodosa (weathering secondary to physical damage) and trichothiodystrophy [a genetic disorder associated with reduced cystine (sulphur)-rich proteins and increased fragility]. In the present study, the distribution of the cystine-rich proteins in the hair of black Africans was compared to that of Caucasian and Asian volunteers, plus patients with trichorrhexis nodosa and trichothiodystrophy, using transmission electron microscopy and specific silver stains. It was found that the silver staining pattern of the hair shafts of black Africans was similar to that observed for Caucasians, Asians and also patients with trichorrhexis nodosa. The cuticular cells exhibited an electron dense A layer and exocuticle, and in the cortex the microfibrils forming the macrofibres were outlined by electron-dense material. This contrasts with the abnormal distribution of the cystine-rich proteins seen in trichothiodystrophy. This study is the first formal comparison of the cystine-rich proteins in the various racial groups and shows that there is no abnormality in their distribution in black African hair shafts compared to the other ethnic groups. Therefore, the excessive structural damage observed in the African hair shafts is consistent with physical trauma (resulting from grooming) rather than an inherent weakness due to any structural abnormality.

Africa↗
PubMed2002

Guidelines for the management of bullous pemphigoid.

These guidelines have been prepared for dermatologists on behalf of the British Association of Dermatologists. They present evidence-based guidance for treatment, with identification of the strength of evidence available at the time of preparation of the guidelines and a brief overview of epidemiological aspects, diagnosis and investigation. The guidelines reflect data available from Medline, Embase, the Cochrane library, literature searches and the experience of the authors of managing patients with bullous pemphigoid in special and general clinics for over 10 years. However, caution should be exercised in interpreting the data obtained from the literature because only six randomized controlled trials are available involving small groups of patients.

Administration, Topical↗
PubMed2002

Keratosis pilaris atrophicans in mother and daughter.

We report two cases of keratosis follicularis spinulosa decalvans in a Caucasian family involving a 28-year-old woman and her mother. This is an unusual family in that no male relatives are similarly affected. Secondly, both patients have no significant eye changes but quite extensive scarring alopecia. To the best of our knowledge this is the second reported family in the UK.

Adult↗
PubMed2001

Pigmentary anomalies in ataxia--telangiectasia: a clue to diagnosis and an example of twin spotting.

A 6-year-old girl with consanguineous parents presented with a history of progressive ataxia and patchy, segmental pigmentary changes, some reminiscent of Blaschko's lines. There was no evidence of oculocutaneous telangiectases or signs of immunodeficiency. A clinical diagnosis of ataxia--telangiectasia (AT) was suggested and confirmed by the presence of a low serum IgA, raised alpha-fetoprotein and chromosomal rearrangements of chromosomes 7 and 14. This case of AT is unique for having hypopigmentation and hyperpigmented patches adjacent to each other, which is a feature that has been described as 'cutis tricolor', and is unusual for having pigmentary skin changes, some in the lines of Blaschko without telangiectases. Clinicians should be aware that a diagnosis of AT may be made in the absence of telangiectases.

Ataxia Telangiectasia↗
PubMed2001

Bullous pemphigoid in pregnancy: contrasting behaviour in two patients.

Bullous pemphigoid (BP) is an increasingly common immunobullous disease of the elderly, and, due to the late age of onset, is rarely seen in women of fertile age. Consequently, to the best of our knowledge no cases of BP in pregnancy have been described. We present two cases of BP that have differed in disease behaviour during pregnancy.

Adult↗
PubMed2001

Vulval punch biopsies: what is the experience of patients and do they alter management?

A questionnaire was used to assess the use of vulval punch biopsies with regard to patient acceptance, complications and relevance to management in patients attending the Oxford vulval clinic over a period of 1 year. All were satisfied with the reasons given for the biopsy. The majority (70%) found the injection of the local anaesthetic to be the most painful part of the procedure. Only minimal bleeding continued after the biopsy in a third of patients and stopped spontaneously within a few hours. None of the patients had secondary infection or chronic ulceration. The most common diagnosis confirmed by biopsy at the Oxford vulval clinic was lichen sclerosus (LS) and the mean age of patients was 63.6 years. Although no malignancy was diagnosed in our patients, in view of potential for malignancy and the lack of significant side effects associated with the procedure, we would recommend that punch biopsies be performed if LS is suspected.

Journal Article↗
PubMed2000

What is normal black African hair? A light and scanning electron-microscopic study.

BACKGROUND: The hair of normal black Africans forms a mat of tightly interwoven hair shafts. The effect of this on the structure of the hair shaft and the response to grooming is unknown. OBJECTIVE: Our purpose was to use light and scanning electron microscopy (SEM) to examine the structure of Negroid-type hairs and effects of combing in black African volunteers. METHODS: Hair samples were collected, by combing, from Africans and compared with those from Caucasian and Asian volunteers. The volunteers had never used chemical treatments. Their hair had not been cut for at least 1 year and grooming had been limited to shampooing, drying, and combing. RESULTS: More than 2000 hairs in 12 African volunteers were examined by light microscopy. The hairs appear as a tight coiled springlike structure. Many shafts exhibited knots (10%-16% vs 0.15%) and appear broken compared with hair shafts from other ethnic groups. SEM of African hairs showed features consistent with repeated breaks of the shaft. Examination of hairs in situ showed interlocking of hair shafts. CONCLUSION: These observations provide an understanding of the physical nature of, and effect of combing on, black African hair.

Adolescent↗