Two cases of pustular toxic epidermal necrolysis.

Toxic epidermal necrolysis (TEN) is a life-threatening, immune-mediated reaction, characterized by severe cutaneous and mucosal blisters and erosions. It often presents with flu-like symptoms, followed by a maculopapular, urticarial, purpuric or erythema multiforme-like eruption, which then evolves into blisters and sheet-like erosions. Presentation with pustules, however, is not well described in the English literature, and may lead to delayed diagnosis. We present two unusual cases of TEN that initially presented with pustular lesions.

Pemphigoid gestationis: early onset and blister formation are associated with adverse pregnancy outcomes.

BACKGROUND: It is unclear whether clinical features of pemphigoid gestationis (PG), such as timing of onset and severity, may affect pregnancy outcomes or whether the adverse outcomes in pregnancies complicated by PG are related to or worsened by systemic corticosteroid treatment. OBJECTIVES: To evaluate the associations of adverse pregnancy outcomes with clinical features, autoantibody titre of PG, and systemic corticosteroid treatment. METHODS: We conducted a retrospective cohort study recruiting 61 pregnancies complicated by PG from the St John's Institute of Dermatology database which enrolled cases from dermatologists across the U.K., and two tertiary hospitals in the U.K. and Taiwan. Outcome measures included gestational age at delivery, preterm birth, birthweight, low birthweight (LBW, i.e. birthweight < 2500 g), small-for-gestational-age (i.e. birthweight below the 10th percentile for gestational age), fetal loss, congenital malformation, and mode of delivery. RESULTS: After controlling for maternal age and comorbidity, decreased gestational age at delivery was significantly associated with presence of blisters (P = 0.017) and disease onset in the second trimester (P = 0.001). Reduced birthweight was significantly associated with disease onset in the first and second trimesters (P = 0.030 and 0.018, respectively) as was also LBW [adjusted odds ratio (95% confidence interval) 13.71 (1.22-154.59) and 10.76 (1.05-110.65), respectively]. No significant associations of adverse pregnancy outcomes with autoantibody titre or systemic corticosteroid treatment were found. CONCLUSIONS: Onset of PG in the first or second trimester and presence of blisters may lead to adverse pregnancy outcomes including decreased gestational age at delivery, preterm birth, and LBW children. Such pregnancies should be considered high risk and appropriate obstetric care should be provided. Systemic corticosteroid treatment, in contrast, does not substantially affect pregnancy outcomes, and its use for PG in pregnant women is justified.

Localized pityriasis rosea.

Pityriasis rosea is a relatively common skin disorder. In its typical form it is easily recognizable; however, atypical forms can pose diagnostic problems. We report a 44-year-old woman with an acute onset of a localized eruption on her left breast. The morphology of the rash and the time course were typical of pityriasis rosea. Localized pityriasis rosea is an unusual variant, which has been described previously.

Linear IgA disease with haemorrhagic pompholyx and dapsone-induced neutropenia.

A case of haemorrhagic pompholyx occurring in a 29-year-old man with linear IgA disease is described. There were several features in our patient that are usually seen in chronic bullous disease of childhood. Treatment with dapsone cleared the eruption but induced a progressive yet reversible neutropenia.

Multiple congenital melanocytic naevi presenting with neurofibroma-like lesions complicated by malignant melanoma.

Giant congenital pigmented naevi and neurofibromatosis (NF-1) may rarely occur together. We report an unusual case where extensive congenital melanocytic naevi were associated with neurofibroma-like lesions that were clinically and histologically confused with neurofibromatosis. The development of malignant melanomas within the pigmented and pendulous lesions representing multiple congenital melanocytic naevi highlights the importance of an accurate diagnosis and a close follow-up of such patients.

Retrospective analysis of the occurrence of internal malignancy in patients treated with PUVA between 1986 and 1999 in South Warwickshire.

Concerns were raised in our department when four of our patients receiving PUVA treatment developed internal malignancy. We reviewed the medical and phototherapy case notes of patients who received either systemic or bath PUVA therapy in our department between 1986 and 1999. Among the 197 patients for whom we were able to trace the hospital records we identified five patients with internal malignancies. Over the same period (1986-1999) we calculated, using the Kaplan-Meier nonparametric estimator, that 4.6 cases of internal malignancy would have been anticipated in our study population. Therefore PUVA therapy did not appear to be a risk factor for internal malignancy.

An unusual case of transient papular mucinosis associated with carpal tunnel syndrome.

A 67-year-old man presented with discrete mucinous papules on the scalp and fingers, and bilateral carpal tunnel syndrome. Both features remitted spontaneously within several months. The acral distribution, and histopathological features, were in keeping with the recently described acral persistent papular mucinosis. Involvement of the scalp, however, has not previously been described, and transient mucin deposition is unusual. The history of bilateral carpal tunnel compression raises the possibility of extracutaneous involvement, not previously reported in this group of patients.

Multiple cutaneous plasmacytomas following an autologous peripheral stem cell transplant.

We describe the unusual development of multiple cutaneous plasmacytomas following treatment of IgA lambda myeloma with myeloablative therapy and a peripheral blood stem cell autograft. Cutaneous metastatic spread was evident despite bone marrow remission. Treatment with an autograft may have contributed to the cutaneous relapse.

Genetic and functional analyses of FH mutations in multiple cutaneous and uterine leiomyomatosis, hereditary leiomyomatosis and renal cancer, and fumarate hydratase deficiency.

Germline mutations of the fumarate hydratase (FH, fumarase) gene are found in the recessive FH deficiency syndrome and in dominantly inherited susceptibility to multiple cutaneous and uterine leiomyomatosis (MCUL). We have previously reported a number of germline FH mutations from MCUL patients. In this study, we report additional FH mutations in MCUL and FH deficiency patients. Mutations can readily be found in about 75% of MCUL cases and most cases of FH deficiency. Some of the more common FH mutations are probably derived from founding individuals. Protein-truncating FH mutations are functionally null alleles. Disease-associated missense FH changes map to highly conserved residues, mostly in or around the enzyme's active site or activation site; we predict that these mutations severely compromise enzyme function. The mutation spectra in FH deficiency and MCUL are similar, although in the latter mutations tend to occur earlier in the gene and, perhaps, are more likely to result in a truncated or absent protein. We have found that not all mutation-carrier parents of FH deficiency children have a strong predisposition to leiomyomata. We have confirmed that renal carcinoma is sometimes part of MCUL, as part of the variant hereditary leiomyomatosis and renal cancer (HLRCC) syndrome, and have shown that these cancers may have either type II papillary or collecting duct morphology. We have found no association between the type or site of FH mutation and any aspect of the MCUL phenotype. Biochemical assay for reduced FH functional activity in the germline of MCUL patients can indicate carriers of FH mutations with high sensitivity and specificity, and can detect reduced FH activity in some patients without detectable FH mutations. We conclude that MCUL is probably a genetically homogeneous tumour predisposition syndrome, primarily resulting from absent or severely reduced fumarase activity, with currently unknown functional consequences for the smooth muscle or kidney cell.