[Malignant transformation of an eccrine spiradenoma]. / Transformation maligne d'un spiradénome eccrine.

INTRODUCTION: Malignant eccrine spiradenoma is a rare and aggressive tumor, developed on the epithelium of eccrine sweat glands. Typically, it occurs after malignant transformation of benign eccrine spiradenoma, but sometimes it happens de novo. OBSERVATION: We report a case of malignant eccrine spiradenoma in a 62-year-old woman. The patient presented a rapid increase in size of a long-standing tumoral lesion of her forearm. There was no secondary lesion on the chest, abdomen or pelvis at the CT-scanner. Cutaneous biopsy of the lesion was performed and showed a carcinoma with no contact with epidermis. On this biopsy, we could not affirm if the tumor was a metastatic process or a primary tumor of the skin. Histologic examination of the surgical removal of the tumor showed an undifferentiated carcinoma with adjacent nodules of eccrine spiradenoma. Immunohistochemical assessment of Ki67 expression showed a weak expression (5%) in the benign spiradenoma nodules and a high rate expression (80%) in the malignant neoplasm. The final diagnosis was an undifferentiated carcinoma arising from preexisting benign spiradenoma. DISCUSSION: Malignant eccrine spiradenoma is not frequent and is rarely described in the international literature that may lead to diagnostic difficulties.

Circumscribed palmo-plantar hypokeratosis: a disease of desquamation? Immunohistological study of five cases and literature review.

BACKGROUND: Circumscribed palmoplantar hypokeratosis (CPH) is a recently recognized, rarely reported dermatosis that shows characteristic clinicopathological features; however, its pathogenesis remains unknown. OBJECTIVE: The aim of this study was to get further insight into the pathogenesis of CPH. METHODS: An immunohistological study was performed on five cases of CPH to investigate the expression of several epidermal proliferation and differentiation proteins, with emphasis on those involved in corneocyte desquamation [including corneodesmosin, kallikrein 5 and lympho-epithelial Kazal type inhibitor (LEKTI)]. RESULTS: In three of five cases, a decreased expression of LEKTI, corneodesmosin and filaggrin was found, along with an increased expression of kallikrein 5 and keratin 6. The expression of several other antigens (including involucrin, Ki67, p63, CD138/syndecan I, EGF-R) did not present a consistently different pattern as compared with the unaffected epidermis. CONCLUSION: The immunohistopathologic features of CPH suggest that an altered (accelerated) corneocyte desquamation process could be the main pathological mechanism underlying the development of lesions.

[Auto-inflammatory disease with hyperimmunoglobulinemia D of late onset]. / Maladie auto-inflammatoire avec hyper-IgD de révélation tardive.

BACKGROUND: The term "auto-inflammatory diseases" encompasses a group of disorders characterised by febrile episodes of sudden onset associated with joint, abdominal, lymph node and cutaneous signs, each presenting a genetic and/or laboratory specificity allowing their identification. Polyclonal elevation of serum IgD is highly suggestive of hyper-IgD syndrome, a disease with autosomal recessive transmission that usually begins before the age of one year. CASE REPORT: We report the case of a 46-year-old woman presenting a disease since the age of 30 years clinically very similar to hyper-IgD syndrome except for ocular and pulmonary involvement. However, tests revealed neither mevalonate kinase gene mutation nor elevation of urinary mevalonic acid. The near-monthly attacks were controlled with mycophenolate mofetil. DISCUSSION: Three cases with identical clinical and laboratory profiles have been reported in the literature and diagnosed as late-onset hyper-IgD syndrome. Our case is the only one involving indirect screening for mutation of the mevalonate kinase gene, which proved negative. This finding rules out the diagnosis of classic hyper-IgD syndrome in our case and raises the possibility of auto-inflammatory disease with reactional hyper-IgD of a different cause, either acquired or secondary to an as yet unidentified mutation.

A sequential study of histological and immunological changes in the skin after allogenic bone marrow transplantation.

Histological and immunopathological studies were performed on serial skin biopsies from thirteen recipients of allogenic and two recipients of autologous bone marrow transplants. Marked dermoepidermal infiltration with Leu 2a+ (OKT8+) phenotype cells was found in two patients with severe graft-versus-host disease, but the infiltration did not precede clinical onset of the graft-versus-host disease. Absence of Langerhans cells was noted during the early posttransplant period in recipients of both allogenic and autologous transplantation. Intercellular epidermal staining with anti-DR was observed in three cases, without relation to graft-versus-host disease.

Human papillomavirus infection and filaggrin expression in paraffin-embedded biopsy specimens of extragenital Bowen's disease and genital bowenoid papulosis.

Cutaneous Bowen's disease (BD) and genital bowenoid papulosis (BP) are considered as precancerous or cancerous lesions that are sometimes infected with human papillomavirus (HPV). We studied retrospectively paraffin-embedded sections of 11 samples of cutaneous BD and 6 samples of genital BP from the general population for HPV infection and filaggrin expression. Using in situ hybridization with biotinylated probes of HPV types 1, 2, 5, 6, 11, 16, and 18, under stringent and/or non-stringent conditions and a streptavidin-alkaline-phosphatase complex for hybrid detection, HPV DNA was detected in 6/17 cases (5 BD and 1 BP). Positive nuclei were located in intermediate or upper epithelial cell layers. HPV 16 was found in 2 cases of BD but associated either with HPV 2 or 18. Three additional lesions reacted only under non-stringent conditions; HPV could not be typed with the probes used. The positive case of BP reacted with the four probe types 1, 2, 16, 18 and was negative with HPV 6 or 11. Viral antigen was not detected by indirect immunofluorescence with a rabbit antiserum directed to group-specific viral capsid antigen. Differentiation disorders were observed in the intermediate and upper cell layers of these specimens, as shown by a reduced expression of filaggrin/profilaggrin, a marker of terminal differentiation, in extragenital BD (7/11 cases), and an increased expression in genital BP (4/5 cases) although viral DNA was not always detectable. This study shows that in situ hybridization is a valuable technique for HPV DNA detection and its typing in BD and BP lesions on deparaffinized sections. The positive nuclei were located in the cell layers that exhibited abnormal expression of differentiation. There is no relation between the HPV infecting type and the filaggrin expression.

Cutaneous angiomas in POEMS syndrome. An ultrastructural and immunohistochemical study.

Cutaneous manifestations of POEMS (polyneuropathy, organomegaly, endocrinopathies, M-protein, and skin changes) syndrome in a 51-year-old white man included two types of hemangiomas, ie, cherry-type and subcutaneous hemangiomas. By light microscopy and immunohistochemistry, both types of tumors showed features of capillary hemangiomas. By electron microscopy, a peculiar finding of subcutaneous hemangiomas was the presence of slender abluminal processes of endothelial cells that were frequently anastomosing to form electron-lucent blebs. Although the precise etiopathogenesis of the vascular proliferations remains speculative, these lesions merit study since they constitute an easily recognizable marker of POEMS syndrome.

Basement membrane in Kaposi's sarcoma: an immunohistochemical and ultrastructural study.

Basement membranes were investigated in early angiomatous and late sarcomatoid stages of Kaposi's sarcoma (KS). Seven frozen skin biopsies of KS from five elderly Mediterranean people and one renal allograft recipient were labelled, using an immunoperoxidase technique, for basement membrane-specific macromolecules, laminin and type IV-collagen. Twenty-seven other frozen cutaneous lesions including haemangio and lymphangiosarcomas, benign vascular tumours, and various epithelial, melanocytic, fibrohistiocytic, fibrosarcomatous and muscular tumours were processed in the same way. In addition an ultrastructural study was performed in two cases of KS, one haemangiosarcoma and one lymphangiosarcoma. Intense labelling was observed for both type IV-collagen and laminin, which appeared closely co-distributed, in all areas of KS. Staining pattern was often regular and continuous around neoplastic vessels in early lesions of KS, as in benign vascular lesions, whereas in late nodular lesions large amounts of basement membrane components were present in intercellular spaces between densely aggregated spindle cells. In contrast, ultrastructural examination disclosed early disruption of basement membranes around neoplastic vessels, and occasional fragments of external lamina were seen at the interface between KS spindle cells and collagen. Similar results were obtained in angiosarcomas both by immunohistological and ultrastructural study. In the comparative group, laminin and type IV-collagen were present, in significantly fewer quantities and in various distinctive patterns, in epithelial, melanocytic, fibrohistiocytic and muscular tumors. This study deals with basement membrane modifications in early and late lesions of KS and provides further evidence in favour of the endothelial nature of the spindle cells of KS.

Oral calcitriol: a new therapeutic agent in cutaneous lichen sclerosis.

BACKGROUND: Lichen sclerosus remains an elusive disease with an uncertain relationship to morphea and scleroderma. The disorder has been difficult to treat, with no consistent and reproducible efficacious therapy. Recently, a beneficial effect of treatment with oral calcitriol (1-25 dihydroxyvitamin D3) in patients with scleroderma or morphea was described. This fact could be ascribed to the immunomodulatory effects of calcitriol observed in vitro and to inhibition of fibroblastic growth. Because of the success of calcitriol in localized scleroderma, we attempted this therapy in a patient with LS. OBSERVATION: One patient with cutaneous generalized LS resistant to different therapeutics was treated with calcitriol in an oral daily dose of 0.5 mcg. After 6 months of treatment, the skin extensibility increased, and the lesions improved. The improvement persisted after discontinuation of therapy during a follow-up period of one year. The only side effect was hypercalciuria, which resolved with dose reduction. CONCLUSION: Calcitriol has shown a beneficial effect in scleroderma and morphea during open studies. A case is reported of a patient with LS who had a dramatic response to calcitriol. Double blind, placebo-controlled trials are needed to assess the therapeutic value of calcitriol in patients with LS.

[Kaposi's sarcoma: comparative immunohistochemical study and histogenic significance of endothelial markers]. / Sarcome de Kaposi: étude immunohistochimique comparative et intérêt histogénétique des marqueurs endothéliaux.

The origin of spindle-shaped cells in Kaposi's sarcoma (KS) remains controversial. Non-specific histochemical reactions, electron microscopic examinations and immunostainings using antibody against factor VIII-related antigen (F VIII-RAG) and Ulex europaeus agglutinin I (UEAI) lectin as endothelial markers have given contradictory results. Immunohistochemical techniques were applied to 7 frozen skin biopsy specimen of KS from 5 elderly Mediterranean people and 1 renal allograft recipient, and a group of 27 other frozen cutaneous tumours including haemangio and lymphangiosarcomas, benign vascular lesions and various epithelial, melanocytic, fibrohistiocytic, fibrosarcomatous and muscular tumours. Using UEAI and antibodies against F VIII-RAG, HLA-DR and vimentin, a large proportion of positive KS spindle cells was found in all cases whereas cells were negative for keratin. Among the various immunoreactivity patterns observed in this study, a unique immunohistochemical profile was demonstrated for KS, angiosarcoma and endothelial cell, which strongly supports the endothelial origin of spindle cells in KS. Whereas F VIII-RAG, HLA-DR, vimentin and UEAI were sensitive endothelial markers, only F VIII-RAG appeared specific for endothelial cells since UEAI stained 2 squamous cell carcinomas and HLA-DR and vimentin were present in various mesenchymal and melanocytic tumours.

[Indolent mastocytosis and bronchial hyperreactivity. A case report]. / Mastocytose indolente et hyperréactivité bronchique. A propos d'une observation.

Mastocytosis (MS) may be exclusively cutaneous or, more rarely, systemic. MS may be indolent (benign), aggressive, leukaemic or associated with a myeloproliferative disorder. The clinical expression of MS may be secondary to the direct consequences of the development of mastocytes in tissue or correspond to the paroxysmal features related to the liberation of vasoactive and spasmogenic mediators by activated mastocytes. Dyspnoeic episodes are classical but the physiopathological mechanism is poorly documented. True asthma or bronchopulmonary mastocytosis seems rare. The authors report evidence of non-specific bronchial hyper-reactivity (HRB) to Carbachol in a patient effected with benign cutaneous mastocytosis with secondary elevation of the total serum IGE. Factors determining the HIB are discussed and appear primarily linked to the mastocytosis.

[Treatment of systemic scleroderma with factor XIII in 86 patients, with long-term follow-up]. / Traitement de la sclérodermie systémique par le facteur XIII chez 86 malades suivis à long terme.

Eighty-six patients with progressive systemic sclerosis were given coagulation factor XIII intravenously in different dosage regimens. The mean duration of treatment was 19 +/- 18 months and patients were followed up for 22.9 +/- 18.8 months. Improvement or stabilization of the lesions was obtained in 44/86 patients and exclusively concerned skin lesions; there was no improvement in visceral lesions. The drug was well tolerated in short-and long-term treatment. It is concluded that factor XIII demonstrated lasting effectiveness in one-half of the patients treated.

[Perforating folliculitis]. / La folliculite perforante.

We report the case of a 20-year old male patient without significant familial or personal history who presented with a disseminated papular eruption on the abdomen, flanks and buttocks. The eruption was continual and proceeded by outbreaks, but it was not influenced by seasons. Physical examination of the skin, mucosae and skin appendages was otherwise normal. Histological examination showed all the criteria of perforating folliculitis as described by Mehregan and Coskey. On the basis of our case we would put perforating folliculitis back among the perforating dermatoses. The concept of this curious phenomenon is briefly reviewed; perforating folliculitis is part of the third group of the so-called primary forms. The clinical features are suggestive of the disease, with its small pigmented papules centred around a keratotic plug, forming a permanent disseminated eruption. Histology shows a granuloma facing a lateral perforation of the hair follicle, a pseudo-epitheliomatous epithelial hyperplasia and the presence of hair and keratin debris in the perforation. Various keratolytic treatments have been applied without success; retinoids have not been tried. The main diagnostic and nosological problem is Kyrle's disease. In view of clinical and histological data, many authors regard Kyrle's disease as a major form of perforating folliculitis. Pruritus, ascribed to an underlying illness in Kyrle's disease, is thought to increase the importance of the lesions. The specificity of perforating folliculitis is discussed, but it seems that side by side with secondary forms occurring in recognized diseases, there may be primary forms of perforating folliculitis. Dyskeratosis might be a cause of the perforation.

[Cutaneous osteoma and Albright's hereditary osteodystrophy]. / Ostéomes cutanés et ostéodystrophie héréditaire d'Albright.

Albright's hereditary osteodystrophy has been diagnosed in a 35-year-old woman who presented recurrent cutaneous ossifications of the auricular area. The patient exhibited other cutaneous ossifications, a short stature with obesity, round face, stocky hands and feet, radiological calcifications of the skull and of the hands, cataract, auditive impairment and dental abnormalities. Serum calcium, phosphorus and parathyroid hormone levels were normal. Urine excretion of phosphorus and cyclic adenosine monophosphate (cAMP) markedly increased after intravenous injection of parathyroid hormone, referring to pseudopseudohypoparathyroidism. Albright's hereditary osteodystrophy is associated either with pseudohypoparathyroidism type 1a characterized by parathyroid hormone and other hormones resistance or with pseudopseudohypoparathyroidism without hormone resistance. This two conditions are considered variants of the same defect of the stimulatory G protein of adenylate cyclase which is necessary for the action of parathyroid hormone, and other hormones to use cAMP as an intracellular second messenger. But Albright's hereditary osteodystrophy may be associated with other biochemical abnormalities, such as defect of catalytic activity of adenylate cyclase in pseudohypoparathyroidism type 1c. There is an important variability of the clinical, biochemical and genetical expression of pseudohypoparathyroidism and today classification is provisional.

[Barraquer and Simons lipodystrophy. Complement anomalies and cutaneous leukocytoclasic vasculitis]. / Lipodystrophie de Barraquer et Simons. Anomalies complémentaires et vasculite leucocytoclasique cutanée.

In a 56-year old woman progressive partial lipodystrophy began at the age of 6 years on the face, thereafter extending slowly down to mid-thigh level (fig. 1 and 2), with moderate hypertrophy of the subjacent fatty tissue and a fatty macroglossia (fig. 3). Histological examination of the lipodystrophic skin not only showed an absence of fatty tissue, but also abnormalities at the dermis-epidermis junction with hyaline bodies (fig. 4). At the age of 23 she developed purpura, predominantly on the legs, which rapidly became chronic (fig. 5); histological examination showed leucocytoclasic vasculitis of dermal vessels (fig. 6) with granular deposits of C3 on the vessels and of IgM at the dermis-epidermis junction. Episodes of polyarthralgia and headaches were frequent. Regressive neuritis of the external popliteal nerve occurred when she was 53-year old. Renal function tests proved normal, but renal biopsy was not performed. There was no diabetes mellitus, but an oral glucose tolerance test and a somatostatin insulin glucose test elicited definite resistance to insulin. A search for a serum factor inhibiting insulin receptors was negative. Permanent abnormalities in serum were a very deep fall in C3, a pronounced fall in CH50 and a low C4 level. Besides, a C3 nephritic factor (NeF) at a high level and circulating immune complexes were present (table I); a mixed IgM-IgG cryoglobulin was found intermittently (fig. 7). Clearance of the immune complexes by splenic macrophages was extremely slow. During a series of plasma exchanges, serum C3 increased transiently, whereas serum C4 remained unchanged (fig. 8).(ABSTRACT TRUNCATED AT 250 WORDS)

[Immunosuppressive therapy and Kaposi's sarcoma: two case reports (author's transl)]. / Traitements immunosuppresseurs et maladie de Kaposi A propos de 2 observations.

The authors report 2 cases of Kaposi's sarcoma in whose immunosuppressive therapy is implicated. In a 47-year-old Italian man, cutaneous lesions were rapidly aggravated after a renal transplant and treatment with corticosteroids and azathioprine; new lesions appeared close to an arteriovenous fistula of the forearm. In a 83-year-old Algerian man, Kaposi's sarcoma appeared during steroid therapy for bullous pemphigoid. The role of acquired immunosuppression, local predisposition and genetical factors are reviewed and discussed for the pathogenesis of Kaposi's sarcoma.

[Acquired epidermolysis bullosa with Crohn's disease. Report of two cases and review of literature (author's transl)]. / L'épidermolyse bulleuse acquise: Association à la maladie de Crohn. Revue générale à propos de deux observations.

Two cases of acquired epidermolysis bullosa (A. E. B.) are reported in patients suffering from Crohn's disease. Microscopic examination showed in both cases a subepidermal blister with pieces of basal membrane among the roof of the blister. In the second case, linear deposits of IgG and C3 were observed by direct immunofluorescence at the dermoepidermal junction in the juxtalesional skin. No circulating antiepidermis antibody were found by indirect immunofluorescence in any of the two cases. Presence of immune complexes was evidenced. A review is presented of similar cases in the literature and of the frequence of the pathological associations. No peculiar feature of A. E. B. when associated to Crohn's disease was found: the course of the two diseases is independent; however, we did observe an improvement of skin lesions by the time of the intestinal remission in the first case. The pathogenesis of this association is still unclear. Autoimmune mechanism might possible play a role, but is still unknown.

[Acquired tufted angioma in an adult]. / Angiome en touffes acquis de l'adulte.

INTRODUCTION: Acquired vascular tumors have been raising new interest since Kaposi's illness was discovered in human immunodeficiency virus infection. We herein report a case of a rare different entity of acquired vascular tumor, described by E. Wilson-Jones for the first time in 1976. CASE REPORT: A 69-year-old woman had had for several months an asymptomatic erythematous lesion on the face gradually increasing in size. Histopathologic findings were pathognomonic of "tufted" angioma. The patient did not receive any treatment because of uncertain efficiency and because her lesion was well tolerated. DISCUSSION: "Acquired tufted angioma" is a benign angioma of the skin mainly occurring in children and young adults of both sexes. Histopathologic findings are pathognomonic. Typically, tufted angioma enlarges for a few years and then ceases growing and remains stable. Spontaneous regression may occur. The principal differential diagnoses are Kaposi's illness and low grade malignant angiosarcoma. Pulsed dye laser in the most efficient treatment.

[Malignant hemangioendothelioma of the head in the elderly. Ultrastructural and immunohistological study]. / Hémangioendothéliome malin de la tête du sujet âgé. Etude ultrastructurale et immunohistologique.

Malignant haemangioendothelioma of the scalp of the elderly (MHS) is a relatively rate entity. A new case of this uncommon condition, which was subjected to an ultrastructural and immunohistological study, is reported herein.

[Extra-abdominal desmoid tumor. Microscopic aspects and histogenesis]. / Tumeur desmoïde extra-abdominale. Aspects microscopiques et histogenèse.

Extra-abdominal desmoid is an unusual and underreported tumour in dermatological literature. We report a new case of such a lesion which was subjected to light, electron-microscopic and immunohistochemical studies. The results showed that proliferating cells exhibit features of myofibroblasts, both at the ultrastructural study (presence of cytoplasmic myofilaments) and the immunohistochemical study (cytoplasmic expression of vimentin and muscle-specific actin). Since these findings strongly suggest that desmoid tumour originates from myofibroblasts the term (extra-abdominal) "myofibroblastoma" could be proposed.