Cutaneous Variant Research Articles

Intrapartum management of a patient with urticaria pigmentosa

Urticaria pigmentosa is a cutaneous variant of mastocytosis. This is a complex group of diseases distinguished by abnormal aggregation of mast cells within the skin and other organs. Mast cell degranulation and subsequent release of vasoactive amines may occur in response to a variety of non-immune triggers leading to, as its most severe manifestation, a clinical picture of anaphylactic shock. We present the anaesthetic management during labour of a patient with urticaria pigmentosa.

Diagnostic value of immunostaining for tryptase in patients with mastocytosis.

The term "mastocytosis" is used to describe a heterogeneous group of disorders characterized by abnormal growth and accumulation of mast cells (MCs). Cutaneous and systemic variants exist. Systemic mastocytosis may show an indolent or malignant clinical course. In malignant mastocytosis (MM), the diagnosis often is missed because the MCs are morphologically abnormal and lack metachromatic granules or the underlying histologic picture is complex. The cytoplasmic serine protease tryptase is produced by MCs and is thought to be expressed at all stages of MC maturation. To assess the diagnostic value of tryptase staining in mastocytosis, tissue sections from 93 patients with mastocytosis, including MM (n = 37), systemic indolent mastocytosis (n = 47), urticaria pigmentosa (n = 5), MC leukemia (n = 2), and solitary skin mastocytoma (n = 2) were stained with the antitryptase antibody G3. The results were compared with those of Giemsa and chloroacetate esterase (CAE) staining. Using antitryptase antibody G3, MC infiltrates were identified in all patients examined, including those with MM (37 of 37), and virtually all the neoplastic MCs (> 95%) appeared to react with G3. In MM, significantly fewer MCs were positive in Giemsa (54.5%; p < 0.05) and CAE (78.8%; p < 0.05). Moreover, G3 produced clear diagnostic staining in all cases of MM, but the proportion of cases with clear diagnostic results (> 10% of neoplastic cells positive) was considerably lower with Giemsa (48.6%; p < 0.05) and CAE (75.7%; p < 0.05) staining. By contrast, tryptase, Giemsa, and CAE produced diagnostic staining of MCs in virtually all cases of systemic indolent mastocytosis, urticaria pigmentosa, and solitary skin mastocytoma. In systemic mastocytosis, survival was significantly reduced in cases with Giemsa-/tryptase+ or CAE-/tryptase+ tumor cells compared to those cases with Giemsa+ or CAE+ MC infiltrates (p < 0.001).

Markers in cutaneous lupus erythematosus indicating systemic involvement. A multicenter study on 296 patients.

Lupus erythematosus (LE) is an autoimmune disorder, involving the skin and/or other internal organs. As cutaneous variants, chronic discoid LE (CDLE) and subacute cutaneous LE (SCLE) usually have a better prognosis, however, involvement of internal organs with transition into systemic disease may occur. The aim of this study was to assess the significance of some clinical and laboratory criteria that could serve as markers for early recognition of systemic involvement in cutaneous LE. Three hundred and seventy-nine patients with LE, seen in five cooperating Departments of Dermatology during the years 1989-1994, were documented by electronic data processing according to a common protocol. Two hundred and forty-five of these patients had cutaneous LE (CDLE or SCLE), and 51 had systemic LE (SLE) and were included in this study. Forty-nine patients with either CDLE/SCLE or SLE were not evaluated because of incomplete documentation; also, 34 patients suffered from other LE subsets and were likewise excluded from the evaluation. Multivariate statistical analysis was used to assess the value of seven selected variables for distinguishing between the CDLE/SCLE and SLE groups: ESR, titers of antinuclear antibodies, anti-dsDNA-antibodies, photosensitivity, presence of arthralgias, recurrent headaches and signs of nephropathy. Univariate and multivariate analysis of the obtained data showed that signs of nephropathy (proteinuria, hematuria) was the variable with the highest statistical relevance for distinguishing between patients with cutaneous (CDLE/SCLE) and with systemic LE (SLE) in all statistical models tested, followed by the presence of arthralgias and of high ANA titers (> or =1:320). In contrast, low ANA titers as well as anti-dsDNA antibodies showed little or no statistical relevance as a criterion for distinction. It seems, therefore, that cutaneous LE patients showing signs of nephropathy, presence of arthralgias and elevated ANA titers (> or =1:320) should be carefully monitored, because they may be at risk of developing systemic LE involvement.

Epidemiology and socioeconomic impact of skin disease in lupus erythematosus.

The prevalence rates of systemic lupus erythematosus (SLE) may vary within 17-48/100,000 population worldwide. Although population-based epidemiological studies are still missing, the cutaneous variants of lupus erythematosus (LE) are 2-3 times more frequent than SLE itself. The most common age of onset is 20-40 y. Overall, cutaneous LE is regarded as a variant with less severe course and better prognosis. However, CDLE and SCLE last for many years and may lead, like SLE, to severe disability for work and limited life quality; also, a small proportion of patients with cutaneous LE develops SLE during the course of their disease. This implies considerable amount of medical management and costs for the community. Early recognition of cutaneous LE patients at risk to develop SLE and preventive measures against disease triggering factors are important tasks for physicians attending with cutaneous LE patients. It seems that signs of nephropathy, elevated ANA-titers and arthralgias may serve as prognostic predictors for transition into SLE. Characteristic features of cutaneous LE are photosensitivity and female predominance. UV light is a major environmental triggering factor in cutaneous LE. Skin lesions may be induced or preexistent lesions may exacerbate due to UV light in up to 80-90% of all patients. Therefore, socioeconomic counseling of the young patients, for example choice of occupation and sun protection, are essentials in compliant patients. Also, since females are 3-6 times more frequently affected than males, the possibility of hormonal influences including pregnancy and estrogen-containing drugs should be discussed. Risk considerations for females wishing to become pregnant are required, and avoidance of estrogen-containing contraceptives should be recommended.

Degos syndrome: Malignant atrophic papulosis

Malignant atrophic papulosis is a rare disorder characterized by pathognomonic cutaneous lesions that have been associated with multiple infarctive thrombotic lesions of other viscera, most notably the gastrointestinal tract and the central nervous system. Systemic involvement may develop from weeks to years after the onset of the characteristic cutaneous lesions or, rarely, may precede the cutaneous lesions. However, the existence of patients with a prolonged, purely cutaneous variant of this disease has been increasingly appreciated, and this brings into question the appropriateness of applying the term "malignant" to all patients who have the peculiar characteristic cutaneous lesions of malignant atrophic papulosis. Despite half a century of sporadic investigation, the precise cause of this disease remains unknown, and accurate classification of this entity as a primary vasculopathy or primary coagulopathy has not been possible. Unfortunately, no effective therapy exists for those patients in whom systemic involvement develops.

Proliferation of reactive and neoplastic human tissue mast cells. An immunohistochemical study using the antibody PC10 (anti‐PCNA)

Studies on the proliferative compartment of human tissue mast cells (MCs) and their tumours (mastocytosis) have not been performed. We have used the monoclonal antibody PC10 to study MCs in reactive or hyperplastic states (chronic non-specific lymphadenitis, n = 10; benign and malignant solid tumours, n = 5) and in the various subtypes of mastocytosis (urticaria pigmentosa, n = 22; solitary mastocytoma of the skin, n = 7; systemic mastocytosis; n = 8; malignant mastocytosis, n = 4). The identification of PC10-positive MC nuclei was achieved by double staining. We found no PC10-positive MCs in reactive or hyperplastic states, or in 14 of 22 cases of urticaria pigmentosa. PC10-positive MCs could be identified in all other mastocytosis but mostly in very low numbers. The mean percentages of PC10-positive MCs amounted to 0.5 in eight positive cases of urticaria pigmentosa, 1.2 in mastocytoma, 0.7 in systemic mastocytosis, and 4.0 in malignant mastocytosis. The difference between the latter form of mastocytosis and each of the other subtypes proved to be significant (P < 0.05). The very small proliferative compartment in the cutaneous and systemic variants of mastocytosis is in accord with their favourable prognosis. Most of the patients with systemic mastocytosis in the present study are all alive and well up to 12 years after diagnosis. In contrast, most of the patients with malignant mastocytosis died within 1 year of diagnosis.

New Perspectives in Anti-Inflammatory Therapies

Pneumatosis cystoides intestinalis (PCI) refers to the presence of gas within the wall of the small or large intestine. The pathophysiology is incompletely understood and is probably multifactorial in nature. PCI is a known but rare complication of systemic scleroderma, and the aetiology of PCI in patients with scleroderma is not fully understood. We present the case of a patient who was referred to gastroenterology clinic by her general practitioner for investigation of 8 months of weight loss, urgency, diarrhoea, bloating and crampy abdominal pain. Extensive investigations were performed to exclude infective, inflammatory or malignant aetiologies for these symptoms. She was diagnosed with PCI on her colonoscopy and was subsequently screened for secondary causes. Our patient was diagnosed with the limited cutaneous (CREST) variant of systemic scleroderma. This case report illustrates that PCI could be an uncommon presentation of systemic sclerosis, therefore clinicians should be aware of the association between these conditions.

Sudden Intraoperative Hypotension in a Patient with Asymptomatic Urticaria Pigmentosa

Urticaria pigmentosa is a usually benign and asymptomatic cutaneous variant of mastocytosis, a disorder distinguished by abnormal proliferation of tissue mast cells (1,2). Infrequently, the systemic variant of mastocytosis, characterized by abnormal, secretory mast cell aggregations in visceral orga

Relationship of cutaneous sarcoidosis to systemic disease

Cutaneous sarcoidosis can be represented by an acute, nonspecific process (eg, erythema nodosum) or by a more chronic process represented histologically by the noncaseating granuloma. These manifestations have adequately been documented in other sections of this issue (see chapters 4 and 9). It is the purpose of this section to relate those skin lesions to the potential for internal organ involvement, and the correlation of a particular cutaneous variant with a specific type of organ involvement. In preparing this section, I began to review the data generated by our practice; then I compared and contrasted it to data reported in the literature. Much of the data is difficult to analyze for a number of reasons. Many of the studies (including ours) have an inclusion bias. For example, patients seen in a pulmonary clinic necessarily have a higher incidence of lung involvement in contrast to those studies seen by dermatologists who may have milder systemic disease. Another problem relates to the inability of a pulmonary specialist to describe the exact nature of the skin lesions or a dermatologist to adequately and thoroughly evaluate the systemic nature of the patient. Despite these biases, this section will deal with studies of systemic disease in patients with cutaneous disease, specifically, lupus pernio, subcutaneous lesions, and the miscellaneous cutaneous manifestations.

Mast cell disease. A cutaneous variant with multisystem involvement.

Three patients are described with mast cell disease characterized by blisters superimposed on widespread skin involvement. The skin changes are present in the newborn and are invariably associated with involvement of the internal organs. The skin lesions regress slowly with age, but the visceral infiltration of mast cells may progress slowly, resembling a type of reticulosis. Skin changes may be the only expression of the disease so that complete medical evaluation is desirable. The genetic implications of this type of disease in father and daughter are discussed. Our three patients, and the five reported previously in the literature indicate a strong interrelationship between this type of skin involvement and mast cell infiltration of other systems. Prognosis in this variety of mast cell disease should be guarded, for two of these eight patients have died; five of the remaining six have histopathologic evidence of mast cell infiltration of the reticuloendothelial system; one of these six has gastrointestinal tract involvement and increasing numbers of mast cells in his bone marrow with spillage of mast cells into the peripheral blood. The structural features of the mast cells were studied in three patients by histology, electron microscopy, and histochemical staining techniques. The mast cell granule contains a sulfated acid mucopolysaccharide.