Neutrophilic urticarial dermatosis: a novel association with poststreptococcal rheumatic disease.

Neutrophilic urticarial dermatosis (NUD), a particular clinical and histological entity, can provide a strong pointer to underlying systemic disease, most frequently rheumatological diseases. We report the first case of NUD in association with a post-streptococcal rheumatic disease, with symptoms including recurrent sore throat, raised antistreptolysin O titre, persistent transient urticaria, polyarthralgia, rheumatic mitral valve disease and Jaccoud arthropathy. Histologically, NUD is characterized by an intense superficial and deep neutrophilic interstitial and perivascular infiltrate, without significant oedema or blood vessel damage. These neutrophils may have a tendency to concentrate along the basement membrane and extend into the epidermis, hair follicles, sebaceous glands and sweat glands (a feature termed 'neutrophilic epitheliotropism'). Clinicians should remain cognizant of NUD, and in particular its frequent association with an underlying inflammatory disorder.

A case of extensive hyaline deposition in facial skin caused by erythropoietic protoporphyria.

Although erythropoietic protoporphyria (EPP) is relatively uncommon, affecting approximately 1 in 140 000 individuals in the U.K., it is an important disease not to miss owing to the risk of acute severe liver disease in 2% of cases. EPP occurs with clinical and histological changes in the skin associated with free-radical-associated dermal vascular damage. This also mediates the painful photosensitivity. Severe and disfiguring hyaline deposition is extremely rare. We demonstrate that severe EPP can cause disfiguring hyaline infiltration of the skin on the hands and face, which sheds light on the mechanism of photosensitivity in EPP; it must also be differentiated from conditions such as lipoid proteinosis.

Patients with xeroderma pigmentosum complementation groups C, E and V do not have abnormal sunburn reactions.

BACKGROUND: Xeroderma pigmentosum (XP) is a rare autosomal recessive disorder of DNA repair. It is divided into eight complementation groups: XP-A to XP-G (classical XP) and XP variant (XP-V). Severe and prolonged sunburn reactions on minimal sun exposure have been considered a cardinal feature of classical XP. However, it has recently become clear that not all patients have abnormal sunburn reactions. OBJECTIVES: To examine sunburn reactions in a cohort of patients with XP and correlate this to the complementation group. METHODS: Sixty patients with XP attending the U.K. National XP Service from 2010 to 2012 were studied. Their history of burning after minimal sun exposure was assessed using a newly developed sunburn severity score. The age at which the first skin cancer was histologically diagnosed in each patient, and the presence of any neurological abnormality, was also recorded. RESULTS: Sunburn severity scores were abnormally high in patients with XP-A, XP-D, XP-F and XP-G compared with non-XP controls. There was no significant difference in sunburn score of patients with XP-C, XP-E and XP-V compared with controls (P > 0·05). Patients with XP-C, XP-E and XP-V were more likely to have skin cancer diagnosed at an earlier age than those with severe sunburn on minimal sun exposure. In addition, patients with XP with severe sunburn had an increased frequency of neurological abnormalities. CONCLUSIONS: Not all patients with XP have a history of severe and prolonged sunburn on minimal sun exposure. The normal sunburn response of patients with XP-C, XP-E and XP-V may relate to the preservation of transcription-coupled DNA repair in these groups. Those with a history of severe sunburn on minimal sun exposure developed their first skin cancer at an older age compared with patients with XP-C, XP-E and XP-V, but they had an increased frequency of neurological abnormalities. Physicians need to be aware that about half of all patients with XP will present without a history of abnormal sunburn.

Localized bullous pemphigoid in a patient with primary lymphoedema tarda.

We report a case of localized bullous pemphigoid (BP) in a woman patient with primary lymphoedema tarda. There is only one previous case reported of localized pemphigoid in an area of lymphoedema, this being of the cicatricial variant. Slow circulation in the lymphatic vessels, increased capillary permeability with preferential localization of antibodies in the area, and potential cleavage of the epidermal junction due to increased hydrostatic pressure leading to autoimmunity, have all been advocated as possible pathogenic mechanisms. Nevertheless, we consider that the mechanism by which localized pemphigoid arises on lymphoedema remains elusive, based on a previous case of generalized BP sparing an area of postsurgical lymphoedema.

Inpatient management of psoriasis: a multicentre service review to establish national admission standards.

BACKGROUND: Some patients with psoriasis may require hospital admission to stabilize their condition, although the role of inpatient management is changing given recent advances in therapeutic options, emphasis on community-based care for chronic conditions and limited healthcare resources. There is a need for evidence-based national standards for inpatient management of psoriasis taking account of factors that predict length of stay. OBJECTIVES: To determine which factors predict length of stay for patients with psoriasis requiring inpatient hospital care with a view to setting evidence-based standards for inpatient psoriasis management. METHODS: A multicentre service review was conducted on all psoriasis admissions over a 9-month period in four dermatology centres in the U.K. We collected data on admission, at discharge and, where possible, at 3 months following discharge. Psoriasis severity was assessed using four validated scoring systems, including Psoriasis Area and Severity Index (PASI) and Dermatology Life Quality Index. We also recorded length of stay and treatment details. RESULTS: Length of stay varied widely between the four centres, but was similar in the two centres which received a high proportion of tertiary referrals for severe psoriasis (mean 19.7 days, range 1-78, analysis of variance P=0.002). Disease severity, measured by PASI, on admission (mean 15.7, interquartile range 8.3-20.8) was significantly higher in the tertiary centres (P<0.0001). However, there was no significant difference in PASI between centres on discharge. The admission PASI was significantly associated with length of stay (r=0.2, P=0.02). There was no significant correlation between other measures of disease severity and length of stay. CONCLUSIONS: Disease severity on admission for patients with psoriasis is greater in tertiary referral centres for psoriasis and is directly associated with length of stay. Length of stay should be used in conjunction with clinical measures such as PASI improvement to set national standards for quality in secondary care.

Mutation analysis in Irish families with glomuvenous malformations.

BACKGROUND: Glomuvenous malformations (GVMs) are rare bluish lesions that can affect the skin and mucosal surfaces. They represent defects in vasculogenesis. Lesions can occur sporadically or in an autosomal dominant mode of inheritance. Recent studies have shown that mutations in the glomulin gene (GLMN) on chromosome 1p21-22 are responsible for familial GVMs. OBJECTIVES: To search for mutations in GLMN in Irish families with GVMs. METHODS: We identified four Irish families with GVMs and confirmed linkage to chromosome 1p21-22 in these cases. We sequenced the glomulin gene in all affected and unaffected members of the families. Results Linkage analysis showed that affected individuals from the families shared a common haplotype. Mutation analysis revealed a delAAGAA mutation in exon 3 of the glomulin gene in all four families with GVMs. CONCLUSIONS: We confirm that mutations in the glomulin gene are responsible for GVMs and suggest a founder Irish mutation in the glomulin gene in four Irish families.

Bullous subacute cutaneous lupus erythematosus.

We describe a 59-year-old woman, with a history of autoimmune disease and disseminated uterine leiomyosarcoma, who developed a photoaggravated, blistering skin eruption. An initial rash, at the outset of treatment with chemo- and radiotherapy, resembled erythema multiforme. Review of the original skin biopsy showed it to be subacute cutaneous lupus erythematosus. There were no systemic symptoms or signs to suggest systemic lupus erythematosus. The much later photoaggravated rash consisted mainly of bullae and eventual epidermal denuding which resembled toxic epidermal necrolysis. We propose that the clinical and histological diagnosis is one of bullous subacute cutaneous lupus erythematosus in a patient with no other features of systemic lupus erythematosus.

Comparison of assessments of severity and quality of life in cutaneous disease.

Clinicians are, by profession, capable assessors of severity of disease. Whether from severity they can deduce a patient's Quality of Life (QoL) is debatable. This study compared scores for physician-assessed severity with the corresponding scores for patient QoL, as assessed using Dermatology Life Quality Index (DLQI) questionnaires in 57 dermatological out-patients. Although there was some degree of correlation between the two measures (r = 0.56), interpretation of QoL from disease severity is clinically unreliable. Thus a physician's assessment of QoL requires formal assessment using a tool such as the DLQI.