Clinical and Experimental Dermatology

doi: 10.1046/j.1365-2230.2002.01198.xpmid: N/A

Mallipeddi, R.

doi: 10.1046/j.1365-2230.2002.01130.xpmid: 12472531

Summary Epidermolysis bullosa (EB) encompasses a group of inherited blistering skin disorders classified into three main subtypes of simplex, junctional and dystrophic. In recent years there have been substantial advances in our understanding of the molecular basis of these conditions and in the management of such patients. In spite of this progress, squamous cell carcinoma (SCC) is still a major cause of morbidity and mortality, particularly in Hallopeau‐‐Siemens recessive dystrophic EB. The reason why dystrophic EB patients readily develop SCC with such a poor prognosis remains a mystery. This article reviews the epidemiology of cancer in inherited EB and also discusses the clinical features, histological assessment and treatment options of SCC in EB.

Hamada, T.

doi: 10.1046/j.1365-2230.2002.01143.xpmid: 12472532

Summary Lipoid proteinosis is a rare, autosomal recessive disorder that presents in early infancy with hoarseness, followed by pox‐like and acneiform scars, along with infiltration and thickening of the skin and certain mucous membranes. Histological and ultrastructural examination reveals widespread deposition of hyaline‐like material and disruption/reduplication of basement membrane around blood vessels and at the dermal‐‐epidermal junction. Recently, lipoid proteinosis was mapped to 1q21 and pathogenetic loss‐of‐function mutations were identified in the extracellular matrix protein 1 gene (ECM1). This article reviews the molecular basis of lipoid proteinosis and reassesses the clinico‐pathological features of this disorder in light of the new genetic discoveries.

Ang Barlow, P., R. J.

doi: 10.1046/j.1365-2230.2002.01157.xpmid: 12472533

Summary ‘Nonablative laser resurfacing’ is a new treatment for photoaged skin, the aim of which is to wound the upper dermis in order to induce dermal fibrosis and improve the clinical appearance. Unlike conventional laser resurfacing or dermabrasion, the epidermis is protected and retained to avoid the problems associated with open wounds and reepithelialization. A number of lasers and light sources have been developed or adapted for this purpose.

Hashimoto, T.; Yasumoto, S.; Nagata, Y.; Okamoto, T.; Fujita, S.

doi: 10.1046/j.1365-2230.2002.01061.xpmid: 12472534

Summary Two cases of IgA pemphigus, one of the subcorneal pustular dermatosis (SPD) type and one of the intraepidermal neutrophilic IgA dermatosis (IEN) type, are described. IgA anti‐keratinocyte cell surface antibodies reacted only with the uppermost epidermis in the SPD type but with the entire epidermis in the IEN type. A cDNA transfection test for desmocollins (Dsc) revealed that IgA antibodies of the SPD type reacted with Dsc1, but the IEN type did not react with any of the Dsc isoforms (Dsc1–3). ELISA for desmoglein 1 (Dsg1) and Dsg3 showed that neither of the cases had antibodies to Dsg − of either the IgG or IgA subtype. These results confirm that the autoantigen in SPD‐type IgA pemphigus is Dsc1, whereas the antigen in most cases of IEN‐type IgA pemphigus is unknown.

Patel, D. C.; Evans, A. V.; Hawk, J. L. M.

doi: 10.1046/j.1365-2230.2002.01142.xpmid: 12472535

Summary We report an open single‐centre trial to assess the efficacy of topical pseudocatalase mousse applied twice daily to the hands and face of vitiligo patients, in combination with twice‐weekly suberythemogenic narrowband UVB phototherapy. The regime was generally safe and well tolerated, although several patients experienced mild transient skin rashes in association with application of the mousse and one patient suffered severe pruritus. The primary efficacy variable was the percentage change in area affected by vitiligo as assessed by digital interpretation of standardized photographs of the face and hands. There was no clear evidence of the efficacy of the regime and in fact a slight tendency overall to worsening of the patients' vitiligo.

Antony, F. C.; Holden, C. A.

doi: 10.1046/j.1365-2230.2002.01091.xpmid: 12472536

Summary We describe two cases of spinal dysraphism where detection of the cutaneous signs − namely a faun‐tail naevus and diffuse hypertrichosis − led to early recognition of the occult neurological abnormalities and institution of corrective surgery. The dermatologist may be the first physician to observe these skin changes and an early neurosurgical referral can prevent subsequent neurological complications.

Lang, K.; Reifenberger, J.; Ruzicka, T.; Megahed, M.

doi: 10.1046/j.1365-2230.2002.01089.xpmid: 12472537

Summary Cutaneous leiomyomas are rare benign tumours of the skin, which present in multiple disseminated, segmental or solitary forms. The pathogenesis of segmental cutaneous leiomyomatosis is not yet fully known. Most recently two types of segmental manifestation of autosomal dominant inherited diseases were postulated. Type 1 reflects heterozygosity for the underlying mutation with a clinical picture similar to that in a non‐mosaic phenotype. In type 2, loss of heterozygosity leads to homo‐ or hemizygosity with a pronounced segmental manifestation of lesions in the affected segment. In our patient the lesions were restricted to one segment and therefore she most probably has a type 1 segmental cutaneous leiomyomatosis.

Türsen, Ü.; Ulubaş, B.; İrfan Kaya, T.; Pekdemir, H.; İkizoğlu, G.

doi: 10.1046/j.1365-2230.2002.01090.xpmid: 12472538

Summary Behçet's disease (BD) is a multisystem disease of unknown aetiology characterized by chronic relapsing oro‐genital ulcers, uveitis, and systemic involvement including articular, gastrointestinal, cardiopulmonary, neurologic and vascular pathology. Vascular involvement is observed in 30% of cases. Although the pathogenic mechanisms underlying the thrombotic disposition in BD are not well known, prothrombin (PT) gene mutations may be one factor that contributes to the development of vascular involvement in this disorder. We report a case of BD with a PT gene mutation, presenting with cardiovascular involvement.

Al Aboud, K.; Al Hawsawi, K.; Al Aboud, D.; Al Githami, A.

doi: 10.1046/j.1365-2230.2002.01088.xpmid: 12472539

Summary We report a family with hereditary hypotrichosis simplex of the scalp, a rare disorder that was first described in 1974. In our family, four out of 10 siblings were affected, including three females and one male. Examination showed thinning of the scalp hair and sparse body hair. Eyebrows, eyelashes, pubic and axillary hair were normal. Skin, nails and teeth were also normal. Hair shaft examination did not reveal any structural abnormalities. Normal follicular units, hair shafts within follicles, eccrine glands and a lack of inflammation were seen on histopathology. The primary pathology underlying this genodermatosis is unclear, but the anagen phase of the hair cycle is clearly compromised.