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Biomedical subjects

D Bessis

Publications and source records attributed to D Bessis.

At least 19 recordsLinked to original sources
PubMed2006

[Macrocephaly-cutis marmorata telangiectatica congenita].

BACKGROUND: Macrocephaly-cutis marmorata telangiectatica congenita is a multiple congenital anomaly/mental retardation syndrome described in 1997 in children with macrocephaly, cutis marmorata telangiectatica congenita and several other abnormalities. CASE REPORT: A six month-old boy was seen for hyperplasia of the right side of the body. Clinical examination disclosed overgrowth, macrocephaly, a generalized reticulated, blue-violet vascular network, partial bilateral syndactyly between the 2nd and 3rd toes, and several superficial capillary malformations. Psychomotor development was normal. Brain MRI showed enlargement of the right lateral ventricle and hemisphere in relation to the left side but without malformation. Radiological examination of the skeleton showed asymmetry of the limbs. DISCUSSION: The patient reported herein presented macrocephaly-cutis marmorata telangiectatica congenita syndrome characterized by macrocephaly and more than two of the main reported findings comprising cutis marmorata, superficial vascular anomaly, syndactyly and asymmetry. We set out the major components of this polymalformative syndrome that are rarely reported in the dermatologic literature.

Abnormalities, Multiple↗
PubMed2006

Chronic cutaneous lupus flare induced by systemic 5-fluorouracil.

5-Fluorouracil is an antineoplastic antimetabolite responsible for a variety of cutaneous reactions. We report a case of chronic cutaneous lupus flare related to systemic 5-fluorouracil administration for breast cancer in a patient with documented history of chronic cutaneous lupus.

Adenocarcinoma↗
PubMed2006

The presence of dominant T-cell clones in peripheral blood of patients with collagen vascular disorders: a prospective study of 97 cases.

BACKGROUND: T-lymphocyte dysfunction has been seldom investigated in collagen vascular disorders. The search for dominant T-cell clones has been scarcely reported, although the presence of such clones might be expected in disorders showing immune responses directed against a variety of autoantigens. OBJECTIVES: We conducted a systematic search for dominant T-cell clones in peripheral blood in patients with collagen vascular disorders. Patients and methods Ninety-seven patients with collagen vascular disorders were studied (7 cutaneous and 38 systemic lupus erythematosus; 8 multiple morphea; 12 regional scleroderma; 32 systemic sclerosis of the CREST type). A dominant T-cell clone was searched for in peripheral blood by polymerase chain reaction targeting the T-cell receptor gamma chain followed by a size analysis of amplified fragments. Peripheral blood from patients with nonlymphocyte-dependent disorders and matched by age and sex was assessed in the same conditions. Results in both groups were compared using nonparametric statistical tests. RESULTS: Overall, a circulating dominant T-cell clone was found in 52% of patients compared with 16.9% in controls. More precisely, such a dominant clone was present in 43% and 37% of cutaneous and systemic lupus erythematosus, respectively, in 75% of multiple morphea, 75% of regional scleroderma and 60% of CREST syndrome patients. The percentages in all subsets of patients were significantly higher than in the control group. CONCLUSIONS: The presence of a dominant T-cell clone in peripheral blood is significantly more frequent in collagen vascular disorders than in controls, especially in patients with scleroderma, whatever the clinical subset, which suggests T-cell involvement in the immune response dysfunction in these diseases classically characterized by disturbances of B lymphocytes. The relevance of such a dominant clone regarding diagnosis, pathomechanisms, long-term outcome and visceral prognosis of these diseases as well as therapeutic decisions remains to be evaluated.

Adolescent↗
PubMed2005

[Trisomy 20 mosaicism revealed by pigmentary mosaicism of the Ito-type].

INTRODUCTION: Ito hypomelanosis-type pigmentary mosaicism is characterized by congenital pigmentation disorders along Blaschko's lines. We report a case of Ito-type pigmentary mosaicism associated with a congenital growth hormone deficiency having revealed trisomy 20 mosaicism. OBSERVATION: A 4 year-old boy presented with congenital pigmentation disorders. His history was marked by: inter-uterine delayed growth of unknown etiology, a dysmorphic syndrome, psychomotor retardation with speech problems, right cryptorchidia and an isolated, idiopathic, congenital growth hormone deficiency that had been treated with recombinant somatropine since the age of three. The clinical examination revealed alternating hypo and hyper-pigmented maculae with linear distribution on the limbs and in "twirls" on the trunk following Blaschko's lines. The blood karyotype was normal, the karyotype on fibroblasts of hypopigmented skin revealed trisomy 20 mosaicism. DISCUSSION: The occurrence of pigmentary mosaicism related to trisomy 20 mosaicism is exceptional. The combination of Ito hypomelanosis-type pigmentary mosaicism and delayed growth due to growth hormone deficiency has never been reported before. Our observation, unusual because of such an association, raises the question of the eventual existence of associated genes located on the chromosome 20 implied in the secretion of growth hormone and/or melanogenesis. It also underlines the interest of conducting cytogenic explorations on fibroblasts of damaged skin in the case of Ito-type pigmentary mosaicism, even if the blood karyotype is normal or in the absence of a patent phenotype abnormality.

Abnormalities, Multiple↗
PubMed2005

[Capillary malformations associated with cerebral cavernous malformation].

INTRODUCTION: Capillary malformations such as benign hereditary telangiectasia are a familial affection, of dominant autosomal transmission, characterized by the progressive development of cutaneous telangiectasia during childhood. The association with cutaneous vascular, arteriovenous or lymphatic malformations is exceptional and has only recently been described. CASE REPORT: A 5 year-old girl presented with widespread erythematous, predominantly telangiectasic, congenital and acquired macules when she was one year-old. Her history was marked by right temporal cerebral hemorrhage at the age of 4, revealing a right temporal cavernoma-like vascular malformation. The familial history of telangiectasic macules and clinical and histological examination led to the diagnosis of benign hereditary telangiectasia. DISCUSSION: This case report raises doubt on the exclusively cutaneous nature of benign hereditary telangiectasic-type capillary malformations. Moreover, it illustrates the possibility of a particular clinical form of this affection, associating classical telangiectasia and post-wine stain-type macules. The recent localization of the locus implied in this affection in 5q14 in the same chromosomic space as the CMC1 locus incriminated in familial capillary malformations, suggests that these two affections are in fact phenotype variations of a single and same clinical entity.

Central Nervous System Vascular Malformations↗
PubMed2005

[Eruptive pseudoangiomatosis in infant and newborns].

INTRODUCTION: Eruptive pseudoangiomatosis was first described in children in the form of an acute non-pruritic macular or papular rash that fades on application of a glass test and resolves within several days. Viral aetiology is suspected but has never been demonstrated to date. OBSERVATIONS: We discuss seven cases of infants presenting this disease: 5 boys and 2 girls aged 8 days to 16 months. The rash presented typical clinical features in all cases and affected the face and limbs in 6 of the 7 subjects. In one child, involvement of the face and back was observed with sparing of the limbs. The rash occurred after an episode of rhinolaryngeal infection in 3 cases and after gastrointestinal infection in 1 case. Spontaneous resolution was seen within 3 to 10 days in 6 patients although a longer course lasting over 9 months was observed in one infant. In another patient, the rash appeared after surgery for mesoblastic nephroma. In one child, a similar rash was seen in both parents. Screening for infectious agents was negative for the two children from whom samples were obtained. DISCUSSION: This series of paediatric cases of eruptive pseudoangiomatosis is characterised by the very young age of one of the children, coexistence of the condition with a renal tumour in another child, the familial nature of the rash in a third child and unusually long disease duration in the final child. However, this series did not allow identification of the causative infectious agent or agents. Probably, as with other syndromes such as Giannotti-Crosti syndrome or "gloves and socks" syndrome, eruptive pseudoangiomatosis forms a clinical picture common to a non-specific viral infection.

Age of Onset↗
PubMed2004

Differential expression of a human endogenous retrovirus E transmembrane envelope glycoprotein in normal, psoriatic and atopic dermatitis human skin.

BACKGROUND: Psoriasis is a common inflammatory skin disease characterized by uncontrolled proliferation of keratinocytes and recruitment of T lymphocytes into the skin. The possible role of human endogenous retroviruses (HERVs) in the induction of psoriasis has been suggested, based upon the previous observations of retrovirus-like particles in psoriasis from skin lesional plaques, urine and stimulated lymphocytes. OBJECTIVES: To investigate the expression of HERV-E transmembrane envelope glycoprotein (HERV-E env) in normal, psoriatic and atopic human skin, and to examine the influence of ultraviolet (UV) B irradiation on HERV-E env expression in normal human epidermal keratinocytes. METHODS: The analysis was performed on both skin biopsies and organotypic skin cultures using immunofluorescence and Western immunoblotting. UVB irradiation (312 nm) of cultured normal human keratinocytes was performed using a dose of 30 mJ cm(-2). RESULTS: Positive staining was observed in most of the psoriatic and atopic skin samples, whereas only 15% of the normal skin samples were faintly positive. In addition, the pattern of expression of HERV-E env differed markedly in psoriasis vs. atopy. By Western blotting analysis, two main proteins of 54 and 57 kDa were detected in extracts of normal skin, normal keratinocyte cultures and reconstructed epidermis from psoriatic and normal punch biopsies. An increased level of expression of these proteins was noted in extracts from psoriatic vs. normal reconstructed epidermis. The overexpression of the 57-kDa protein in normal human cultured keratinocytes was dramatically reduced by UVB irradiation. CONCLUSIONS: These data suggest for the first time that HERV-E env is expressed in normal and pathological human skin. Further studies are now required to elucidate the role of such viral proteins in the pathogenesis of psoriasis.

Adolescent↗
PubMed2004

A prospective study of cutaneous adverse events induced by low-dose alpha-interferon treatment for malignant melanoma.

INTRODUCTION: alpha-Interferon is associated with numerous cutaneous side effects, but the accurate incidence of these complications is not clearly known. OBJECTIVES: A prospective study was designed to evaluate the incidence and clinical pattern of cutaneous side effects in a cohort of patients receiving adjuvant therapy with low-dose interferon for malignant melanoma. MATERIAL AND METHODS: A cohort of 33 patients with stage IIA and IIB melanoma treated with low-dose alpha-interferon (3 MIU 3 times a week for 18 months) were prospectively enrolled in a single-center study. The patients responded to a questionnaire on their medical history and were systematically examined for any cutaneous lesions before treatment and every 3 months afterwards. RESULTS: 29/33 patients (87%) experienced 1 or more cutaneous side effects. The most frequent was hair loss and occurred in 16 cases (48.4%). Hair discoloration was noted in 6 cases (18%). Eczematous reactions at injection sites or at remote sites were observed in 13 patients (39%). Pruritus occurred in 10 cases (30%). Xerostomia, Raynaud's phenomenon or livedo reticularis were observed in 10 patients, associated with an increase in circulating autoantibody titer in 2 cases. Some rare side effects were observed: urticaria (1 case) or angioedema (1 case), worsening of preexisting seborrheic dermatitis (3 cases), herpetic recurrence (2 cases), pityriasis versicolor (1 case), worsening of recurrent buccal aphthous ulcer (1 case) and vitiligo (1 case). CONCLUSION: Cutaneous adverse events during adjuvant immunotherapy of melanoma with low-dose alpha-interferon seem to be frequent but do not result in treatment discontinuation. A good awareness of these side effects may be useful for a more accurate survey and clinical management of patients receiving this treatment.

Adult↗
PubMed2004

Mucocutaneous side effects of antineoplastic chemotherapy.

All structures of the skin may be affected by side effects of antineoplastic chemotherapy. The most commonly described effects concern skin adnexes, especially hair with alopecia. Nails are also frequently involved. Eccrine sweat or sebaceous gland involvement is more rarely reported. Mucous membranes, particularly in the mouth, are frequently altered by several mechanisms; direct cytotoxicity, infection, and a decrease in polymorphonuclear or platelet counts. Among cutaneous side effects, hyperpigmentation is very common and may have different clinical patterns; generalised, figurated, or localised. Acral erythema is another cutaneous side effect that is relatively specific to chemotherapy and is often dose-related. Some cutaneous side effects are related to an interaction between chemotherapy and radiation, particularly phototoxicity, recall phenomenon, and radiation enhancement. Miscellaneous, less frequent, side effects are described; sclerodermiform dermatitis, Raynaud's phenomenon, and hypersensitivity syndrome. In some cases, cutaneous side effects are relatively specific to one type of drug. Capillary leak syndrome is most often related to taxanes. Hydroxyurea is responsible for some peculiar cutaneous side effects (ulcerations, pseudo-dermatomyositis), perhaps due to long-term administration of the drug. Although mucocutaneous side effects of chemotherapy are frequent and sometimes severe, interruption of the culprit drug is rarely mandatory. However, adaptation of the dosage or prevention of some of these side effects remains necessary. Antineoplastic chemotherapies are widely used in many therapeutic protocols and may be responsible for numerous mucocutaneous side effects, either specific or more unusual. In rare cases, the severity of these side effects may require interruption of therapy. They may involve skin adnexes, mucous membranes or the skin itself. This review discusses cytotoxic antineoplastic drugs only, not cytokines, monoclonal antibodies or transduction factors used in the treatment of cancer.

Alopecia↗