[Medaillon-like dermal dendrocyte hamartoma: A case report]. / Hamartome dendrocytaire dermique à type de médaillon: à propos d'un cas.

Medaillon-like dermal dendrocyte hamartomas are rare congenital cutaneous lesions. They are present at birth as asymptomatic, benign, round, erythematous, well-circumscribed, atrophic patches. Typically, they have characteristic pliable, wrinkled surface; subtle telangiectases may also be appreciated. They are localized on the upper trunk or the neck. They may be misdiagnosed as atrophoderma, cutis aplasia, or anetoderma. Characteristic histologic findings include epidermal atrophy and the presence of CD34-positive spindle cell proliferation in the dermis. Little is known about the pathophysiology of medaillon-like dermal dendrocyte hamartomas. The main diagnosis pitfall is atrophic congenital dermatofibrosarcoma protuberance due to clinical and histological similarities. We emphasize that molecular studies to eliminate the t(17;22)(q22;q13) translocation of dermatofibrosarcomas may provide determinant elements for diagnosis in order to avoid unnecessary mutilating surgery. We present a case of medaillon-like dermal dendrocyte hamartoma with a local recurrence.

Unexpected extradermatological findings in 31 patients with xeroderma pigmentosum type C.

BACKGROUND: Xeroderma pigmentosum type C (XP-C) is a rare, autosomal, recessive condition characterized by the association of various clinical manifestations mostly involving the skin and eyes. OBJECTIVES: To evaluate the clinical manifestations in a homogeneous, genetically characterized cohort of patients with XP-C. METHODS: All patients with XP-C, which was confirmed genetically or by unscheduled DNA synthesis, from the registry of our department and from the French association of patients 'Les Enfants de la Lune' were contacted. During a planned consultation, clinical information was collected using a standardized case-record form. RESULTS: In total, 31 patients were seen. The mean age at diagnosis was 2.95 years; skin symptoms started at a mean age of 1.49 years. Among the patients, 52% had relatively short stature, with a height-for-weight z-score below -1 SD; 62% showed pyramidal syndrome and 45% had photophobia and/or conjunctivitis. Four patients had several pyogenic granulomas. Twenty-four patients (77%) had skin cancer. The mean age of onset of the first skin cancer was 4.76 years (range 2-14.5 years). Basal-cell carcinoma was the most frequent cancer. Melanomas were rare and mostly desmoplastic. Multinodular thyroid was the most frequent internal tumour. CONCLUSIONS: Our data highlight several new aspects of XP-C. Patients with XP-C are at risk of developing pyogenic granulomas, desmoplastic melanomas and multinodular thyroid. Involvement of the central nervous system is frequent, but its mechanism remains unclear. The relatively short stature of the patients needs further investigation in order to be explained. XP-C is not only a cancer-prone disorder but is also a polysystemic disorder.

Efficacy of imatinib mesylate in the treatment of refractory sclerodermatous chronic GVHD.

Treatment of sclerodermatous chronic GVHD (cGVHD) remains disappointing. Imatinib mesylate enables selective, dual inhibition of the transforming growth factor beta (TGFbeta) and PDGF pathways. Recently, the drug's effects on fibroblasts have been reported in both in vitro and in vivo studies. The inhibition of fibroblast growth and decreased collagen production in dermal fibroblasts is thus a logical therapeutic approach. Two patients who developed refractory sclerodermatous cGVHD following allo-SCT received imatinib mesylate at the dose of 400 mg/day. In both patients, the scleroderma symptoms disappeared within 3 months of initiation of the treatment. At the time of this report, the two patients were both alive and had a very good skin response. This report shows that imatinib is effective in patients with refractory sclerodermatous cGVHD. Considering its well-documented clinical profile in other diseases, imatinib is a promising candidate for the treatment of sclerodermatous cGVHD.

[Severe Stevens-Johnson syndrome in 4 children]. / Syndrome de Stevens-Johnson sévère chez l'enfant: à propos de 4 observations.

Stevens-Johnson syndrome is an acute, self-limiting disease of the skin and mucous membranes. Erythema multiforme, Stevens-Johnson syndrome and toxic epidermal necrolysis are all part of a single spectrum illness. We report severe erythema multiform in 4 children aged from 6 to 15 years old. Erythema was mostly related to mycoplasma pneumoniae infection (3/4) and 1 case was attributed to drugs. Two children developed severe sequelae (obliterans bronchiolitis). No patient had recurrent disease. The early use of steroids is still debated, but in our experience it seems to benefit overall. A long term follow-up is necessary with the study of pulmonary function tests and chest X-rays ophtalmologic and dermatologic examination.

[Bracelet localisation of chickenpox: a case of atypical varicella]. / Varicelle en bracelet: illustration des éruptions varicelleuses atypiques.

We report on a 3-year-old child with bracelet localisation of chickenpox. Varicella with unusual clinical aspects and course is known as atypical varicella; it is characterized by its unique clinical features, unusual distribution, or a prolonged course. In case of atypical varicella, clinical diagnosis can be difficult. Pre-existing factors have been reported such as immunocompromised status, sun exposition, local injury and pre-existing rash.

[Invasive fungal dermatitis in extremely premature newborns: a specific clinical form of systemic candidiasis]. / La candidose cutanée invasive du grand prématuré, une forme clinique particulière de candidose systémique.

BACKGROUND: Fungal agents, chiefly Candida albicans, are the cause of rising morbidity and mortality in newborn infants weighing less than 1500 g. We studied the particular cutaneous effects during the course of these infections. PATIENTS AND METHODS: This was a retrospective 3-year study in premature infants weighing less than 1500 g and hospitalized in the neonatal department of the Lille University Teaching Hospital. The patients included in the study presented sepsis with isolation of Candida in blood and/or urine culture. RESULTS: Twelve infants were included (1.8%). The risk factors seen are those described in literature (broad-spectrum antibiotics, prolonged mechanical ventilation and parenteral nutrition, corticosteroids and central venous catheters). Infection occurred early (mean: D12) and affected extremely premature infants (mean: 25 weeks' amenorrhea) of low birth weight (mean: 758 g) generally born by vaginal delivery (9 of 12 infants). The sole fungal agent isolated was Candida albicans. In 10 of the 12 patients, a characteristic skin disorder was observed (erythema with erosion and desquamation). In 10 of the 12 patients, too, Candida was isolated from skin and/or mucosal samples. DISCUSSION: Although it is now universally accepted that antifungal treatment should be initiated without delay for candidemia in septic newborn infants at risk, diagnosis of systemic candidiasis remains delicate. However, a specific pattern of skin involvement is very commonly seen that is atypical for candidiasis, but which in addition to its diagnostic value indicates early colonization with Candida (first 2 weeks of life). In this setting of immaturity of the skin and immune system, colonization and proliferation in skin and/or mucosa appear to constitute the first stage of systemic infection and we may speak of invasive cutaneous-mucosal candidiasis in extremely premature infants and initiate treatment designed to prevent the disease becoming systemic..

[Neonatal maculopapular exanthema revealing septicemia due to Klebsiella pneumoniae via maternofetal infection]. / Exanthème maculo-papuleux néonatal révélateur d'une septicémie à Klebsiella pneumoniaee par infection maternofoetale.

BACKGROUND: Neonatal exanthema of bacterial origin is caused very rarely by Gram-negative bacilli. We report a case of neonatal maculopapular exanthema evocative of Klebsiella pneumoniae septicemia resulting from maternofetal infection. OBSERVATION: On the fourth day of life, a newborn infant presented incipient morbilliform maculopapular exanthema on the face. During delivery, the mother had presented hyperthermia and meconium was found in the amniotic fluid. Clinical examination of the newborn was normal. No clinically obvious site of entry of infection was seen. Laboratory tests revealed major inflammatory syndrome. Blood cultures were positive for K. pneumoniae, which was also found in blood cultures from the mother. Screening for other causes of infection was negative. Parenteral antibiotics for 10 days yielded favorable results with simultaneous resolution of the exanthema, normalization of laboratory values and negative blood cultures. DISCUSSION: Exanthemas of infectious origin are not associated with any specific organism. The most common causative micro-organisms are Listeria monocytogenes, B streptococci, colibacilli, and more rarely, staphylococci. There have been reports of a number of cases of neonatal septicemia due to Gram-negative bacilli responsible for maculopapular exanthemas but the causative organism was not identified. To our knowledge, Klebsiella pneumoniae has never been incriminated in the appearance of this type of rash via maternofetal transmission. Consequently, the presence of neonatal exanthema should prompt screening for sepsis, even in the absence of other evocative signs, and in particular in settings of apyrexia.

[Cutaneous symptoms revealing a monoblastic leukemia]. / Manifestations cutanées révélatrices d'une leucémie monoblastique.

UNLABELLED: Leukemia cutis (LC) are not rare in acute myeloid leukaemia (AML) in children but exceptionally reveal it. Most authors think that they have poor prognosis. CASE REPORT: We report the case of an infant with isolated cutaneous involvement at the time of diagnosis of leukaemia. Bone marrow aspiration showed AML M5. The child was treated by LAME 91 protocol, arm "infant under one year of age". Complete remission, both in bone marrow and skin, was obtained after induction course. Then the patient received consolidation course and megatherapy followed by autologous bone marrow transplantation. Skin relapse occurred early. The complete remission no. 2 was not obtained by second line treatment: new LC appeared when PMN count increased more than 10(9)/l. Then, the child was treated with oral VP16 but disease progressed with more and more LC, followed by bone marrow relapse. Child's death occurred about one year after diagnosis.

Pure ectodermal dysplasia: retrospective study of 16 cases and literature review.

OBJECTIVE: To review the possible craniomaxillofacial deformative consequences associated with ectodermal dysplasias and embryonic malformations, which include dental ageneses. SETTING: Oral and Maxillofacial Surgery Department, University Hospital, Lille, France. PATIENTS: Sixteen patients (seven boys and nine girls, aged 4 to 34 years) with pure ectodermal dysplasia (no ectodermal dysplasia syndromes). INTERVENTIONS: All patients had a clinical examination. Seven (two boys and five girls, aged 4 to 25 years) had undergone plaster casts and radiographic and Delaire's cephalometric studies before being treated. MAIN OUTCOME MEASURES: All patients had tooth ageneses (from hypodontia to anodontia), associated with cutaneous dyshidrosis and hair and nail dystrophy. Most of them had a short face, with an unusual facial concavity, a maxillary retrusion, and a relative mandibular protrusion. MANAGEMENT RESULTS AND DISCUSSION: Depending on their ages and their orthopedic abnormalities, patients underwent either dental or prosthodontic, orthodontic, orthopedic, orthognathic, or implant treatment. So as not to interfere with the growth pattern, we preferred to reserve implant and orthognathic surgery for full-grown cases. CONCLUSIONS: Oral and maxillofacial surgeons must undertake a comprehensive approach to these patients to improve their dental, masticatory, growing, and orthognathic conditions.

[DRESS (Drug Rash with Eosinophilia and Systemic Symptoms) syndrome after sulfasalazine and carmazepine: report of two cases]. / DRESS syndrome à la sulfasalazine et à la carbamazépine: à propos de deux cas.

INTRODUCTION: To better individualize drug hypersensitivity reaction, Bocquet et al. have recently called this adverse drug reaction DRESS (Drug Rash with Eosinophilia and Systemic Symptoms). EXEGESIS: We report two cases of DRESS and highlight the main characteristics of this syndrome. Two patients presented severe febrile skin eruption following drug intake (carbamazepine or sulfazalazine), with hypereosinophilia and hepatitis. All symptoms resolved after drug withdrawal and corticosteroid therapy. DRESS syndrome is an idiosyncratic reaction characterised by febrile eruption, occurring 2 to 6 weeks after the beginning of the treatment, accompanied by systemic symptoms and biological abnormalities (hypereosinophilia, hepatitis). Some complications can occur. This syndrome can be fatal. Numerous drugs can be responsible for this reaction to medication. The physiopathology has not yet been elucidated, and the treatment is not codified, but the triggering agent must immediately be stopped. Corticotherapy is sometimes used. CONCLUSION: It is important to recognize this entity recently named DRESS syndrome because it can mimic other pathologies, is potentially serious, and because withdrawal of the incriminating drug is imperative.

[Granuloma annulare following BCG vaccination]. / Granulome annulaire après vaccination par le BCG.

BACKGROUND: Granuloma annulare following BCG vaccination or tuberculin skin tests is rarely reported in the literature. We describe three cases occurring in patients under the age of 6 years. CASE REPORTS: In the first two cases, granuloma annulare was initially localized at the vaccinal site, then generalized. In the third case, diagnosis was deep granuloma annulare localized far from the initial vaccination site, with recurrence following tuberculin test. In the three cases, diagnosis was made on the basis of clinical and histological elements. DISCUSSION: The relationship between granuloma annulare and BCG may seem evident when the eruption occurs at the vaccinal site, but remains difficult to prove. Diagnosis essentially relies on the absence of other classical etiologies and a compatible delay. When a vaccination such as BCG appears to be the cause of granuloma annulare, a possible cause would be injection trauma or a cell-mediated-delayed-hypersensitivity reaction to a specific antigen contained in the vaccine, leading to development of skin disorders such as granuloma annulare in predisposed subjects. Reports of granuloma annulare following BCG are uncommon but the incidence may be underestimated. In practice, diagnosis of granuloma annulare following BCG or tuberculin skin test cannot be established until BCG dissemination infection is ruled out, a necessary clinical and paraclinical step required in all cases of eruptions following this vaccination. Granuloma annulare is a benign complication requiring no treatment and does not constitute a contraindication for other usual vaccinations.

Cutaneous granulocytic sarcoma arising at the site of radiotherapy for breast carcinoma.

Carcinogenic effects of radiotherapy in breast cancer are well-known. Long-term follow-up of these patients shows a significantly increased risk of leukemia. Cutaneous granulocytic sarcoma is an uncommon leukemia cutis that usually occurs in association with acute myelocytic leukemia or myeloproliferative disorders. We report a case of cutaneous granulocytic sarcoma in a 44-year-old woman who had been treated six months earlier for breast adenocarcinoma. The treatment had associated lumpectomy, axillary lymph node dissection and radiotherapy. Skin lesions appeared firstly and predominantly on the irradiated area. Haematological investigations were normal and the diagnosis of isolated sarcoma was made. The uncommon features of this case were the short interval between radiotherapy and the occurrence of leukemia skin lesions and the fact that, to our knowledge, this is the first report of leukemia cutis localised on the irradiated area. The responsibility of radiation in the distribution of cutaneous lesions of granulocytic sarcoma is discussed.

[Melanoma in organ transplant patients]. / Mélanome chez le transplanté.

OBJECTIVE: The incidence of cutaneous melanoma has rapidly increased in the white population over the last decades. It has been estimated that the incidence doubles world-wide every 10 years. Different risk factors have been identified, including immunosuppression. The aim of our study-was to determine the relative risk of developing melanoma in the organ transplant population and the clinical and histological features of their melanomas. PATIENTS AND METHODS: This retrospective study was conducted with the collaboration of 9 University Hospital Centers: Besançon, Brest, Caen, Dijon, Lille, Lyon, Nantes, Paris (Pitié-Salpétrière) and Rennes. A questionnaire was sent to the different departments of dermatology of these hospitals to obtain information on patients who had presented a melanoma after a transplantation between 1971 and 1997. During this period, there were 12,477 organ transplant recipients in the transplantation units of these 9 hospitals. Average follow-up for these patients was about 5 years and the average duration of immunosuppressive therapy was about 4.5 years. RESULTS: Among 12,477 organ transplant recipients, we found 17 cases of melanoma but no data could be obtain on one case: 14 occurred in renal transplant recipients and 3 in cardiac transplant recipients. Clinical and histological data were only available in 16 patients. The average time between transplantation and diagnosis of melanoma was 63 months, but it was 5 times shorter for 2 patients who had a past history of melanoma before transplantation. Two patients had a mucosal melanoma; for the cutaneous melanomas, 2 appeared on Dubreuilh melanosis, 2 were in situ melanomas, 7 were superficial spreading melanomas and 3 were nodular melanomas. The histological review of 11 cutaneous melanomas revealed a precursor nevus in 6 cases and a weak or no stroma reaction in 7/7 cases. Complete excision of the melanoma was performed in all patients except one with anorectal melanoma. Four patients died of visceral metastasis within a mean 15 months. The other 12 patients are still alive with a mean 3 year course since tumor treatment. We tried to determine the relative risk of developing melanoma in the renal transplant population (14 cases). The number of expected cases of melanoma was 5.54, giving a relative risk of 2.5. DISCUSSION: Only 4 studies have shown an increase in the incidence of melanoma in the renal transplant population: approximately 2 to 5-fold. In our study, the 2.5-fold increase in melanoma was estimated with an average 5 year follow-up and an average 5 year immunosuppressive therapy. This is probably an underestimation of risk because we were unable to make an exhaustive collection of cases of melanomas even though transplant recipients undergo more physical examinations than a reference population. The mean latency period from transplantation to melanoma diagnosis was 63 months, as in other studies. Histological examination showed that a precursor nevus is frequent with weak host cellular response to the tumor. The prognosis of these melanomas remains difficult to predict, but in our study, it would not appear to be as poor as expected. Discontinuation of immunosuppressive therapy would not appear to be necessary except in the presence of metastasis. Finally, our study demonstrates the importance of good patient follow-up, even after graft rejection due to the persistent risk of melanoma.

[Ambulatory skin grafting in leg ulcers: a feasibility study of 34 patients]. / Greffe cutanée ambulatoire des ulcères de jambe: étude de faisabilité chez 34 malades.

OBJECTIVES: Despite the advent of modern dressings, management of leg ulcers remains a long costly process, particularly if no etiological treatment is possible. Autologous skin grafting is more and more widely used in this indication. The aim of this open single center noncomparative study was to analyze the feasibility of ambulatory procedures for skin grafting and the incidence of ambulatory care in a medical nursing clinic as an alternative to traditional hospitalization on total cost in this pathological condition. PATIENTS AND METHODS: Thirty-nine grafts were performed in 34 consecutive patients. No selection was made for etiology or duration of the leg ulcers. Three grafting techniques were used after debridement-cleansing: flap grafts for medium sized ulcers (29 cases), mesh grafts for large ulcers (6 cases) and patch grafts for small ulcers or ulcers with irregular contours (4 cases). The dressing was opened on day 5, nursing care was provided every 2 days and daily in case of infection. Percentage of healing was evaluated clinically on days 5, 15 and 30 then at months 3, 6 and 12. Photographs were taken. RESULTS: Four patients were lost to follow-up and one died. Among the 34 grafts assessed at 6 months, we obtained total healing in 56 p. 100, 75 p. 100 healing in 6 p. 100, 50 p. 100 healing in 9 p. 100 and failure in 29 p. 100. Healing rates were those expected for arterial ulcers and necrotic angiodermas. For venous leg ulcers, the rate of total healing was only 30 p. 100 at 6 months and 43 p. 100 at 1 year. Outcome depended on duration of the lesion and not on the type of skin graft or patient age. DISCUSSION: This prospective study reports outcome of ambulatory skin grafting in a large representative sample of patients with leg ulcers of various etiologies. The less favorable outcome for venous ulcers can be explained by the duration of the ulcerations and infection in these often neglected lesions. The risk of graft displacement, contact eczema, and infection must be recognized for early treatment. There were no cases with general complications. This ambulatory technique has the enormous advantage of limiting the risk of hospital-related problems in this elderly population and of reducing overall cost of care for leg ulcers, and finally of limiting the risk of recurrence by regular post-graft follow-up in a specialized center and by treatment of the causal disease.

[Sclerosing tufted angioma. Apropos of 4 cases involving lower limbs]. / Angiome en touffes sclérosant. A propos de 4 observations aux membres inférieurs.

BACKGROUND: Tufted angioma belongs to the family of vascular skin proliferations. Clustered capillaries is the characteristic histological feature. Classically, tufted angioma is an acquired disease observed in children or young adults with lesions predominating on the neck, the shoulders and the upper trunk. CASE REPORTS: Four children were seen for flat skin lesions which were either initially or secondarily erythematous. The lesions were observed at birth or within the first weeks of life. In all 4 cases, the lesions progressed by infiltration, leading to sclerous plaques within a few weeks. The hip area was involved in case n(o) 2 and the thigh in the other cases. Pathology reported tufted angioma. A repeated biopsy 4 years after the first biopsy demonstrated the progressive nature of the fibrosis in case n(o) 2. Magnetic resonance imaging, performed in 3 of the 4 cases, demonstrated deep penetration of the vascular proliferation. The lesions were in contact with bony structures in case n(o) 2, reached the hypodermis in case n(o) 3 and infiltrated between the adducter muscles in case n(o) 4. DISCUSSION: Among tufted angiomas, there is a clinical variant characterized by very early discovery (congenital or within the first months of life), preferential localization on the lower limbs and progression to sclerosis. Although non-specific, hypersudation and lanuginous hypertrichosis are also highly suggestive signs. The main clinical and histological differential diagnosis is angio-eccrine hamartoma and, to a lesser degree, Kaposi hemangioendothelioma which does not predominate on the lower limbs. This particular clinical presentation of tufted angioma should lead to wide and sufficiently deep biopsy to allow precise diagnosis prior to initiating therapy. The possibility of spontaneous involution would allow abstention with regular surveillance to detect reactivation and progression or functional impairment. Such unfavorable progression has lead certain authors to propose high-dose systemic corticosteroid therapy or alpha-interferon.

[Pyostomatitis-pyodermatitis vegetans uncovering a case of Crohn disease]. / Pyostomatite-pyodermite végétante révélatrice d'une maladie de Crohn.

BACKGROUND: Pyostomatitis-pyodermatitis vegetans is an uncommon condition associated with chronic inflammatory bowel disease in 75% of the cases, usually hemorrhagic rectocolitis. CASE REPORT: A 48-year-old man was referred for recent development of pustulous lesions of the lips and buccal mucosa and weight loss. He complained of abdominal pain and intermittent diarrhea which had persisted for more than one year. During the last three months, a pseudotumoral plaque with a pustulous rim had developed over the two distal phalanxes of the right middle finger in association with ungueal lysis and nodular, vegetating and crusted lesions on the lateral aspect of the left arm. Small pustules covered the entire buccal mucosa excepting the tongue and the glans forming a typical snail trace aspect. Bacterial and mycological samples were negative. The histology reports for skin and mucosa were similar: epithelial hyperplasia, intra- and subepithelial granulocyte micro-abscesses and polymorphous infiltration of the superficial derma with numerous neutrophils and eosinophils. There was a discrete interkeratinocytic fluorescence at direct immunofluorescence but indirect immunofluorescence was negative. Anti-desmogleine 1 immunolabeling showed typical normal skin uptake and immunotransfer was negative. Digestive tract endoscopy and histopathology examination of the bowel specimens confirmed the diagnosis of Crohn's disease. Clinical manifestations improved dramatically with prednisone. DISCUSSION: This case of pyostomatitis-pyodermatitis vegetans involved several aspects rarely reported in the literature: a) the cutaneomucosal signs were inaugural; b) the association with Crohn's disease; c) the presence of lesions to the genital mucosa; d) the unusual localization of the inaugural skin manifestations. This clinical entity has now been clearly distinguished from pemphigus vegetans. There was however a long debate on the similar clinical, histological and even immunological expressions. We suggest that pyostomatitis-pyodermatitis vegetans belongs to the spectrum of neutrophilic dermatoses and other authors even propose it is a clinical form of pyoderma gangrenosum.