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.

Ullrich-Turner syndrome: seven pregnancies in an apparent 45,X woman.

A 37-year-old woman was referred for genetic counseling after termination of her probable seventh pregnancy. Ultrasound examination at 13 weeks of gestation had shown a fetus with bilateral cystic hygromas. A transabdominal amniocentesis confirmed 45,X karyotype in the fetus. The patient had marked short stature and a 45,X chromosome constitution in blood lymphocytes. Subsequently she had a hysterectomy and oophorectomy. Tissue of representative sites of the pathological specimen showed a 45,X chromosome constitution. However, molecular analysis of 8 sites from the uterus and ovaries, and of skin fibroblasts with X-chromosome microsatellites showed the presence of only one allele, except for the microsatellite DXS996 which demonstrated 2 alleles (155 bp and 161 bp) in ovarian tissue. The lymphocytes from the mother and her only son demonstrated the same single allele (161 bp). We conclude that molecular analysis of lymphocytes and of tissue is necessary for detecting low-level mosaicism in apparently homogeneous 45,X women.

Acrokeratosis paraneoplastica: Bazex syndrome.

Bazex syndrome, or acrokeratosis paraneoplastica, is a cutaneous paraneoplastic syndrome characterized by psoriasiform lesions associated with, usually, a squamous cell carcinoma of the upper aerodigestive tract. We present a case of Bazex syndrome associated with metastatic cervical squamous cell carcinoma with an unknown primary. The features of the condition are discussed in the light of current knowledge.

Acrokeratosis paraneoplastica of Bazex.

Bazex disease is one of the rarer cutaneous paraneoplastic syndromes. It is characterized by psoriasiform changes on the digits, and in some patients spread to the ears, nose and in later stages to the limbs and trunk. The associated malignancy is typically a squamous cell carcinoma of the upper aerodigestive tract. We review the literature regarding acrokeratosis paraneoplastica of Bazex and report three cases which illustrate both the typical and some of the less common changes that are seen in the condition.

Anogenital lichen sclerosus in women.

A study of 350 women with lichen sclerosus, originally made to elucidate the relationship between lichen sclerosus and autoimmunity, led to the amassing of a considerable amount of clinical material. Our review is confined to those with anogenital lesions (342), supplemented by some new cases (15), giving a total of 357 women with biopsy proven lichen sclerosus. It demonstrates the wide age range of the condition, the association with morphoea and lichen planus and the occurrence of squamous cell carcinoma in some cases. It also shows that inappropriate surgery has continued to be carried out for benign disease.

[Diabetic cheirarthropathy simulating sclerodermia]. / Quiroartropatía diabética que simula esclerodermia.

A patient with diabetic cheiroarthropathy in whom the diagnosis of sclerodermia had been initially made is reported. The initial diagnosis had resulted in inappropriate therapy. The clinical features of this poorly known complication of diabetes mellitus are reviewed, and the corresponding etiologic and pathogenetic hypotheses are discussed.