[CDAGS syndrome (craniostenosis, deafness, anal abnormalities and genitourinary malformations with skin rash)]. / Syndrome CDAGS (craniosténose, surdité, anomalie anale et génito-urinaire avec éruption cutanée).

INTRODUCTION: CDAGS syndrome (craniosynostosis, deafness, anal and genitourinary abnormality with rash) has been reported in 8 families of different geographical origins since 1981. No genes have been identified to date. PATIENTS AND METHODS: The patient is a girl born at 40 weeks of amenorrhea after a normal pregnancy. She was born to non-consanguineous parents and there was no significant family history. At birth, she presented craniosynostosis with a form of premature coronal suture. When she was 3 months old, she presented an eczematous facial rash. At 11 months, a skin biopsy showed lichenoid dermatosis with epidermal atrophy associated with ortho- and para-keratotic hyperkeratosis. She had sparse hair, eyelashes and eyebrows. Her initial psychomotor development was normal. No other malformations were observed. At 6 years, she presented pale pink, reticulated, erythematous plaques around healthy bands of skin on her throat and chin. Lesions on the elbows, knees and buttocks were linear and keratotic with no atrophy or telangiectasia. At 7 years, she had learning difficulties and delayed speech. Genetic assessment revealed no abnormalities. DISCUSSION: The specific dermatologic aspect combined with craniosynostosis suggested a possible diagnosis of CDAGS syndrome, even in the absence of urogenital or anal lesions. This syndrome may take numerous different forms. The appearance of porokeratosis previously noted was not found here. The underlying genetic substratum of this syndrome is not known as yet and additional genetic studies should be considered.

[Eruptive granuloma after injection of Ellansé® successfully treated using methotrexate]. / Granulomes après injection d'Ellansé®, résolutifs sous méthotrexate.

BACKGROUND: Collagen stimulators such as Ellansé® are soft tissue fillers able to induce nucleogenesis. We describe a case of eruptive foreign body granulomas following injection of Ellansé® that were successfully treated using methotrexate. CASE REPORT: A 47-year-old woman received injections of Ellansé® for the wrinkled aspect of her cheeks. She had previously undergone injections of hyaluronic acid on the nasolabial folds. Nine months after the Ellansé® injections, the patient consulted for the recent appearance of multiple nodules on her face. Histological analysis of one of these nodules confirmed the presence of foreign-body granulomas developed in contact with spherical gaps of a size substantially identical to the Ellansé® vacuoles. Methotrexate 10mg per week for 3 months followed by 20mg per week for 9 months resulted in complete regression of the nodules. DISCUSSION: Ellansé® is composed of two biocompatible and bioabsorbable polymers: carboxymethylcellulose, responsible for immediate volume creation, and polycaprolactone, which promotes collagen synthesis. However, any injected product can cause varying degrees of granulomatous reaction. Hyaluronic acid was previously injected at several other sites on the patient's face. These lesions were not the result of poor injection technique. CONCLUSION: Although collagen stimulators are biocompatible and bioabsorbable substances, the development of foreign-body granulomas, while rare, is still possible. Methotrexate resulted in significant regression of nodules as of the third month of treatment.

[Alopecia, deformed ear and mental retardation associated with terminal 21q deletion]. / Alopécie, dysplasie auriculaire et déficit intellectuel en lien avec une délétion 21q terminale.

BACKGROUND: Partial 21q monosomy is a rare condition with only a few cases being described in the literature. We report a new case associating congenital alopecia with 21q deletion. PATIENTS AND METHODS: At birth, a female infant presented with diffuse alopecia, atrichia of the eyelashes and eyebrows, and deformed ears. Her development was marked by the appearance of intellectual deficit. Chromosome analysis by karyotype and CGH (comparative genomic hybridization) array revealed ring chromosome 21 with 21q22.3 terminal deletion of 3.6 Mb. The other laboratory examinations were unremarkable, and simply ruled out the main differential diagnoses. Treatment with zinc and Minoxidil® 5% allowed regrowth of lightly pigmented down on the scalp alone. DISCUSSION: A combination of alopecia, deformed ears and mental retardation should suggest a diagnosis of partial 21q monosomy. Alopecia, which is poorly described in this syndrome, seems to be more frequently associated with 21q22.3 terminal involvement.

[Cytopenia under topical imiquimod in two patients treated with oral hydroxyurea]. / Cytopénies sous imiquimod topique chez deux patients traités par hydroxyurée.

BACKGROUND: Aldara® is a topical immunomodulatory treatment. The risks of systemic passage are minimal. There have been rare reports of systemic adverse effects. PATIENTS AND METHODS: Case 1. Five sachets weekly of imiquimod were prescribed for Bowen's disease on the forearm in a patient known to have essential thrombocytosis under Hydrea®. His CBC was normal (6000 leukocytes/mm3, 2200 PMN/mm, 230,000 platelets/mm3). Imiquimod was given in 15 sachets weekly. Fifteen day later, the patient presented bicytopenia (3000 leukocytes/mm3, 1400 PMN/mm3, 119,000 platelets/mm3). Hydroxyurea and imiquimod were suspended until normalization of CBC. Hydroxyurea was resumed without recurrence of the bicytopenia. The patient's history included an identical episode following application of imiquimod. Case 2. Five sachets weekly of imiquimod were prescribed for actinic keratosis on the scalp in a patient known to have primary polycythemia under hydroxyurea. Her CBC was normal except for anemia (Hb 11.5g/L, 160,000 platelets/mm3, 1100 lymphocytes/mm3). Imiquimod was given in 12 sachets weekly. Ten days later, anemia increased (Hb 10g/dL) with lymphopenia (800/mm3) and thrombocytopenia (115,000/mm3). Suspension of imiquimod resulted in normalization of the previous CBC values. DISCUSSION: . The literature review identified reports of dose-dependent lymphopenia under oral imiquimod but not under Aldara®. The National Pharmacovigilance Database listed 10 cases of hematological disorders most likely caused by Aldara®. Hydroxyurea may induce cytopenia, and while it was not considered the sole causative agent in this case, it is likely to have had a triggering role in these patients with blood dyscrasias. Our findings show that misuse of imiquimod carries a potential risk of hematologic abnormality in patients receiving concomitant hydroxyurea, a commonly combined drug.

[Eruptive epidermoid cysts during topical imiquimod treatment]. / Éruption de kystes épidermiques après application d'imiquimod topique.

BACKGROUND: Imiquimod is a local immune-response modifier that works by stimulating innate and acquired immunity. It is frequently used to treat superficial basal cell carcinoma, the most common form of skin cancer. Marked local inflammatory reaction is common during treatment. We report a case of the rare condition, multiple eruptive milia, during topical imiquimod therapy. PATIENTS AND METHODS: A 67-year-old male patient presented infiltrating basal cell carcinoma above the left eyebrow. The patient underwent surgery and skin grafting. He presented superficial relapse at the periphery of the graft and was initially treated with Aldara®. Fifteen days after initiation, Aldara® was withdrawn due to a critical inflammatory reaction. A few weeks after complete healing, an erythematous annular plaque of milia, excluding the graft zone, appeared. This element was confirmed by histopathology. DISCUSSION: The most common local side effects reported with Aldara® are erythema, irritation and crusting. Reports of eruptive milia following Aldara® therapy are rare and they are never mentioned in the summary of product characteristics. Application of imiquimod in fact induces local inflammatory reaction due to stimulation of local cytokines, which can result in marked reaction in the infundibular epithelium of hair follicles and thus in the production of abnormal keratin that can cause pilosebaceous duct obstruction and thus the formation of epidermoid cysts. This pathological mechanism explains the absence of lesions on the skin graft of the inner arm. CONCLUSION: The occurrence of eruptive milia during treatment with Aldara® is rarely described. The timing of occurrence of these eruptive milia as well as the mechanism of action of the drug made such a reaction highly probable in our patient.

[Cutaneous T-cell lymphoma following renal transplantation]. / Lymphome T cutané après transplantation rénale.

INTRODUCTION: Post-transplant cutaneous lymphomas are the second skin cancer after cutaneous carcinoma and are usually of the B-cell type. Post-transplant cutaneous T-cell lymphomas are extremely rare. We described a case of a cutaneous T-cell lymphoma in a renal transplant recipient. CASE REPORT: A 52-year-old woman was hospitalized for an erythematous infiltrated eruption. Seven years earlier, she had undergone kidney transplantation. No palpable lymphadenopathy or hepatosplenomegaly was present. The patient's skin biopsy specimen was histologically suggestive of CD30- fungoid mycosis. The same clonal TCR-rearrangement was identified in the blood and in the skin. No EBV was detected within the cutaneous lesion on immunohistochemical analysis or by PCR in the blood. Chlorambucil (Chloraminophène) was associated with a topical treatment with chlormethine (Caryolysine) and corticosteroids while tacrolimus (Prograf) was reduced and stopped. There was no evidence of recurrence of the lymphoma after 12 months of follow-up. DISCUSSION: The particularity of our observation is the apparition, 7 years after transplantation, of a CD30-, EBV-fungoid mycosis with a blood and cutaneous clonal TCR-rearrangement. Despite this poor prognosis factor, the cutaneous lymphoma regressed after reduction of the immunosuppressive treatment reduction and institution of topical corticosteroids, chlormethine and chlorambucil.

[Phenylbutazone-induced sialadenitis fever simulating angioedema]. / Sialadénite à la phénylbutazone simulant un oedème de Quincke.

BACKGROUND: Drug-induced sialadenitis is uncommon and unrecognized. Drugs such as nitrofurantoïn, nifedipine and methimazole have been reported to induce sialadenitis. However, phenylbutazone and oxyphenbutazone are the most frequently implicated agents. We describe a case of phenylbutazone-induced parotitis and submaxillitis with cutaneous and hepatic involvement. CASE REPORT: A 51 year-old woman who had received phenylbutazone for the past 6 days was hospitalized for diagnosis of Quincke's oedema. Clinical examination in fact revealed bilateral parotitis and submaxillitis. The patient had contracted mumps in infancy. Improvement was noticed 8 days after stopping the drug and treatment by glucocorticosteroid. Nevertheless a pruritic eruption with fever appeared. Laboratory data showed leukocytosis with neutrophilia, ESR of 75 mm/hr, hepatic cholestasis and cytolysis. Infectious and autoimmune causes were ruled out. The eruption spontaneously disappeared after 5 days. Laboratory studies 3 weeks later were normal. DISCUSSION: Quincke's edema diagnosis had been established too fast on "allergic past history" and patient interrogation. Complete clinical examination revealed the correct diagnosis of sialadenitis. This observation shows similarities with other publications: unbearable xerostomia appearing before sialadenitis and with a long course, parotitis with sub-maxillitis, 6 days delay after the first administration of phenylbutazone before fever, local evolution without complication, inflammatory biological syndrome with neutrophilia and absence of infectious cause. Pruritic maculo-papulous eruption and biological hepatic abnormalities are however rare. An hypersensibility mechanism is discussed.

[Genital leiomyomas of the male nipple: two cases]. / Léiomyome dartoïque du mamelon: deux cas chez l'homme.

BACKGROUND: Genital leiomyoma is a rare benign solitary skin tumor, not painful, developed from smooth muscle. Genital leiomyoma arising from the nipple is extremely rare, especially in males. CASES REPORT: A 47 year-old male had a 2 cm cutaneous plaque with nodules located on the right nipple. This plaque was circumscribed, erythematous, pruriginous and was not painful. The lesion had been noticed by the patient two years ago. A 37 year-old male showed a 1.5 cm cutaneous plaque located on the left nipple. The plaque was slightly erythematous, pruriginous, not painful and had been noticed by the patient 5 years earlier. Histology provided the diagnosis of genital leiomyoma in both cases. No surgical therapy was performed. DISCUSSION: Cutaneous leiomyomas are classified in 3 types regarding their origin: multiple or solitary piloleiomyoma, arising from arectores pilorum muscles, solitary genital leiomyoma, arising from the dartoic, vulvar, or mammillary muscles, and solitary angioleiomyoma, arising from the vein muscles. Clinically, genital leiomyoma is a 1 cm diameter solitary erythematous, firm nodule. According to many authors, genital leiomyoma is asymptomatic, but in the 2 patients, the lesions were pruriginous. Surgical excision is usually performed.

[MELAS syndrome (mitochondrial encephalopathy with lactic acidosis and stroke-like episodes]. / Syndrome MELAS (Encéphalopathie Mitochondriale avec Acidose Lactique et pseudo-accidents vasculaires cérébraux).

BACKGROUND: The MELAS syndrome (Mitochondrial Encephalopathy, Lactic Acidosis and Stroke-like episodes) belongs to the category of mitochondrial disorders. The most common molecular etiology of the syndrome is a mutation A to G transition at base pair 3243 in the mitochondrial genome. The phenotype is varied and depends on the proportion of DNA muted and which organ on aerobic metabolism suffers most. CASE-REPORT: An 17 year-old woman had successively neurosensory hearing loss, renal disease, cardiomyopathy, diabetes mellitus, lactic acidosis and stroke-like episodes that evoked a MELAS syndrome. DISCUSSION: The skin manifestations of patients with MELAS syndrome are scaly, pruritic, diffuse erythema, reticular pigmentation, moderate hypertrichosis, seborrheic eczema, atopy and vitiligo. Our patient presented severe hirsutism and reticular pigmentation of the limbs. No abnormal histologic and electron microscopic findings were noted in the skin or the follicles involved.

Pulmonary embolism and transitory anti-beta2-GPI antibodies in an adult with chicken pox.

Anti-beta2-glycoprotein I antibodies are considered as a specific marker for the antiphospholipid syndrome. In contrast to lupus circulating anticoagulant and anticardiolipin (aCL) antibodies, they are usually not found at significant levels in infections. We report a case of pulmonary embolism in an adult with varicella. Transient significant levels of aCL antibodies and of IgM anti-beta2-GPI antibodies were observed. No other prothrombotic factor, including free protein S antigen deficiency, was found. The direct pathogenic role of these transient antibodies on the thrombotic event may then be suspected. They are probably associated with VZV acute infection and are absent two months after varicella.

[Bioavailability evaluation of dermocorticoids using differential infrared thermography]. / Evaluation de la biodisponibilité des dermocorticoïdes par thermographie infrarouge différentielle.

INTRODUCTION: Differential infrared thermography, proposed in this paper, is a technique based on direct observations of infrared radiations emitted by the skin. The evolution of cutaneous temperature caused by the application of dermocorticoids on healthy skin demonstrates their pharmaco-dynamic properties. MATERIALS AND METHODS: The cutaneous thermal image was recorded in real time. Image processing using subtraction function readily provided differential infrared thermographic analysis of the effects. Four activity classes of dermocorticoids had been applied on healthy skin. A test immediately carried out after dermocorticoid application on skin without occlusion and the classical skin blanching-test have been performed. RESULTS: Temperature differences between the dermocorticoids were detected within the first three hours after the application on the skin without occlusion. The dermocorticoid class II cream formulation under study induced a decrease in temperature more pronounced than the others dermocorticoids. The skin-blanching effect was more noticeable for dermocorticoids class I and II and it was not detected for class IV. DISCUSSION: Subtraction thermograms provide a means of differential imaging. Evolutive temperature differences subsequent to unique application without dermocorticoid occlusion are evidenced during a short duration (the first three hours). This may correspond to efficacy differences while classical tests of vasoconstriction analyse the cutaneous blanching induced after the 6th hour. Concerning the skin-blanching effect, results of this first investigation are not sufficient for a precise qualitative and quantitative interpretation. The main interest of differential infrared thermography is to be quantitative, without contact, continuous in real time. Differential infrared thermography is more sensitive than classical thermography. It allowed an objective evolution survey for dermocorticoids.

[Pigmented pemphigoid]. / Pemphigoïde pigmentée.

BACKGROUND: Pigmented bullous pemphigoid has many clinical manifestations. We report a pigmented erythematous form with disseminated bullae. CASE REPORT: A 70-year-old woman with a history of breast adenocarcinoma developed an eruption of pigmented macules on the trunk and members of 72 hour duration. At five days, there was an eruption of tight bullae. The diagnosis of bullous pemphigoid was retained because of the association of infraepidermic bullae, linear deposits of C3 along the basal membrane and the presence of the 180 kDa minor bullous pemphigoid antigen on immunoblotting. DISCUSSION: The initial pigmented aspect of this bullous pemphigoid suggested disseminated pigmented bullous erythema, but histology data with immunotransfer corrected the diagnosis. This very atypical presentation led us to look for a particular etiology. There was no argument in favor of a malignancy in this patient in complete remission after treatment of her breast adenocarcinoma. The fact that the patient was phototype IV would probably explain the pigmented nature of the initial lesions.