[Unusual presentation of infantile myofibromatosis with an ulcered plaque]. / Présentation inhabituelle d'une myofibromatose cutanée infantile en plaque unique ulcérée.

INTRODUCTION: Infantile myofibromatosis is a rare fibrovascular-like, isolated or multicentric tumor, occasionally of the bone or an organ and appearing before the age of 2. We report a case of infantile myofibromatosis in a child in an atypical form with a single, ulcerated plaque and having developed after the onset of clusters of papular nodules. OBSERVATION: An infant was seen in consultation because of asymptomatic papules that had developed on the back. The histological examination of a partial biopsy revealed a histiocytofibromatus aspect and led to the diagnosis of clusters of multiple histiocytofibromatous. One year later, the papular nodules had converged, forming a large plaque with ulcerated center. The progressive extension and the absence of healing prompted surgical exeresis and the final diagnosis of myofibromatosis. DISCUSSION: Diagnosis of infantile myofibromatosis is difficult histologically and clinically and relies on a clear anatomoclinical confrontation. The clinical aspects are varied. To our knowledge, myofibromatosis with a single ulcerated plaque has never been reported in the literature before.

[Cutaneous polyarteritis nodosa following hepatitis B vaccination]. / Périartérite noueuse cutanée après une vaccination contre l'hépatite B.

INTRODUCTION: We report the original case of cutaneous periarteritis nodosa that occurred one month following vaccination against hepatitis B. OBSERVATION: A 37 year-old woman, without notable past history, taking no medication, presented with a livedo that had appeared one month after the first injection of a hepatitis B vaccination and had slowly extended over the past 7 years. She did not complain of any other symptom. The histological examination of the livedo showed a necrotic vasculitis. The clinical picture, the histological image and the slow 7-year progression led to the diagnosis of cutaneous periarteritis nodosa. Treatment with hydroxychloroquine (Plaquenil) followed by colchicine had no effect on the livedo. DISCUSSION: Cutaneous periarteritis nodosa is a rare disease of unknown physiopathology. It can be distinguished from systemic periarteritis nodosa by the absence of systemic involvement and benign but prolonged progression. The association of systemic periarteritis nodosa and hepatitis B has been demonstrated. Conversely, only one case of cutaneous periarteritis nodosa associated with hepatitis B viral infection has been described. The vaccination against hepatitis B is frequently prescribed. Following vaccination, a few cases of vasculitis have been reported. The responsibility of the vaccine in the onset of vasculitis has never been formally demonstrated, nevertheless if a cause to effect exists, the physiopathological mechanism might jeopardize the circulating immune complexes containing Ag HBs.

Direct evidence to support the role of antigen-specific CD8(+) T cells in melanoma-associated vitiligo.

Vitiligo is a cutaneous pigmentary disorder characterized by the loss of melanocytes. An autoimmune mechanism is strongly suspected to be involved in this affection given that it is frequently associated with autoimmune hormonal disorders, and because antibodies directed against melanocytic antigens are found in the serum of patients with vitiligo. We examined the role of cellular immunity in melanoma-associated vitiligo by expanding infiltrating lymphocytes from fresh biopsy specimens of vitiligo patches in melanoma patients. The vitiligo-infiltrating lymphocytes were almost exclusively T lymphocytes, and most were CD8(+). Following in vitro expansion, vitiligo-infiltrating lymphocytes remained predominantly CD8(+) and expressed the cutaneous homing receptor CLA. Furthermore, vitiligo-infiltrating lymphocytes had a clonal or oligoclonal T cell receptor profile, possibly reflecting specific antigenic stimulation. Finally, vitiligo- infiltrating lymphocytes specifically recognized differentiation antigens shared by normal melanocytes and melanoma cells. This direct demonstration of CD8(+) T cell involvement in vitiligo suggests that, in melanoma patients, vitiligo may be a visible effect of a spontaneous antitumoral immune response.

[Muir-Torre syndrome and familial colorectal cancer: 2 families with molecular genetic analysis]. / Syndrome de Muir-Torre et cancer colorectal familial: deux familles avec étude génétique moléculaire.

INTRODUCTION: The Muir-Torre Syndrome is a rare genodermatosis, defined by the occurrence of cutaneous tumors (such as sebaceous adenomas, epitheliomas, or carcinomas, and/or keratoacanthomas), and internal malignancies. Recently, molecular analysis in hereditary non polyposis colorectal cancer demonstrated a common genetic basis, linking these two disorders, with the observation of germline mutations in the hMSH2 gene (one of the DNA mismatch repair system genes) in both syndromes. Such molecular demonstration of a single nosological entity should be clinically used to improve the indications of molecular testings in oncogenetics, still restricted to highly stringent criteria for hereditary non polyposis colorectal cancer. CLINICAL CASES: We identified three patients from two different families, who fulfilled the criteria for both Muir-Torre Syndrome and hereditary non polyposis colorectal cancer. The search of a germline mutation of the hMSH2 gene was performed on an affected member from each family, and their relatives with their informed consent. Within each family, all individuals with colorectal cancer were carriers of the same mutation. In the first family, this mutation was a pathogenic microinsertion, usable for predictive testing. In the second family, a missense mutation was identified, requesting further demonstration of its pathogenicity before its use in a predictive purpose. CONCLUSIONS: The diagnosis of cutaneous tumors compatible with Muir-Torre syndrome should lead the dermatologist to suspect an hereditary non polyposis colorectal cancer that should bring to an oncogenetic approach: personnal and familial history of colorectal cancer, molecular analysis, recommendations for colonoscopic screening in at-risk relatives. In the case of a colorectal cancer at a young age, or in the case of familial cases, the gastroenterologist should screen for cutaneous lesions of Muir-Torre syndrome, which could add a criteria for an hereditary syndrome, and lead to molecular oncogenetic analysis.

[Peripheral adrenal insufficiency in AIDS]. / Insuffisance surrénale périphérique au cours du SIDA.

BACKGROUND: Lesions of adrenal glands are common findings at autopsy of patients with acquired immunodeficiency syndrome (AIDS). In contrast the diagnosis of symptomatic adrenal insufficiency is rarely established during the lifetime of these patients. PATIENTS: We report four new cases and review the literature. All four patients had full blown AIDS with a mean CD4 cell count of 19 mu/L. One or more opportunistic disease was present at the time of diagnostic: cytomegalovirus retinitis in two cases, disseminated Mycobacterium avium infection in two, Kaposi's sarcoma in two and Candida esophagitis in one. RESULTS: The clinical presentation constantly included fatigue, weight loss, severe orthostatic hypotension and gastrointestinal disturbances. Cutaneous hyperpigmentation was present in three cases. In most cases biological abnormalities were typical, such as hyponatremia, urinary Na/K ratio > or = 1, and hyperkalemia. Serum cortisol levels were within the range of normal in three cases but response to the cosyntropin challenge was typically impaired in all cases. Clinical and biological manifestations returned to normal in 1 to 3 weeks after initiation of therapy with cortisol, associated to fludrocortisone in three cases. However, 13 months after diagnosis, three patients were dead. CONCLUSION: Usually asymptomatic, diagnostic of symptomatic adrenal insufficiency must be suspected even when clinical presentation is atypical because rapid efficiency of hormonal treatment.

Secretion of parathyroid hormone-related peptide in patients with multiple myeloma.

Stimulation of bone resorption by local factors, the cytokines, is key to the development of hypercalcemia in multiple myeloma patients. Parathyroid hormone-related peptide, the systemic factor found in humoral hypercalcemia, has rarely been incriminated in myeloma. We report a case of myeloma with hypercalcemia and elevated serum level of parathyroid hormone-related peptide. Bisphosphonate therapy was rapidly effective in correcting serum calcium levels despite persistent high levels of the peptide. Seven other cases of myeloma with hypercalcemia and high serum parathyroid hormone-related peptide levels have been reported. Expression by myeloma plasmocytes of the messenger RNA for this peptide has also been demonstrated. These data suggest that parathyroid hormone-related peptide may contribute to the development of hypercalcemia in some myeloma patients.