[A case of "juvenile" self-healing cutaneous mucinosis in an adult]. / Mucinose cutanée « juvénile ¼ auto-involutive chez l'adulte.

INTRODUCTION: Self-healing juvenile cutaneous mucinosis (SHJCM) is a stereotypical disease in children characterized by the acute onset of subcutaneous papules and nodules on the face, dorsum of the hands and peri-articular regions that disappear spontaneously within a few months or years. A few cases have been reported in adults, but these display more heterogeneous clinical and histopathological features. Herein we report a case with a juvenile clinical presentation in an adult woman. OBSERVATION: A 36-year-old patient with a history of Von Willebrand disease was referred to our dermatology department following the rapid development of subcutaneous nodules on her face, hands and large joints, together with periorbital edema. Three nodules were surgically removed and histology demonstrated mucin deposition in the dermis with dissociation of collagen fibers. Autoimmune disease, neoplasia, infection and dysthyroidism were ruled out. Bilateral carpal tunnel syndrome was confirmed by electromyogram in this patient carrying out manual work. Treatment with hydroxychloroquine proved unfruitful. After 1.5 years of follow-up, her lesions showed partial regression. CONCLUSION: The form of SHJCM described in pediatric populations may occur in rare cases in adults. Should the name of juvenile mucinosis still be used in this event?

[Carbon dioxide laser treatment of genital intraepithelial neoplasia: A retrospective study]. / Traitement des néoplasies intraépithéliales génitales par laser CO2 : étude rétrospective.

INTRODUCTION: Genital intraepithelial neoplasias (IEN) are precursors of squamous cell carcinoma. The ideal treatment must be efficacious, conservative and well-tolerated. CO2 laser is one of the recommended therapies, but its efficacy and safety have not been extensively studied. PATIENTS AND METHODS: This was a retrospective single-center study. Sixteen patients (8 women and 8 men) treated with CO2 laser for genital IEN, whether high-grade or differentiated, were included. Surgical lateral margins of 3 to 5mm were taken macroscopically during treatment. The CO2 laser session, assessment of therapeutic response and follow-up were undertaken by a dermatologist at the University Hospital of Caen. RESULTS: The mean patient age was 68.1 years and mean follow-up was 52.7 months (5-130). Lesions were isolated in 87.5% of patients. The recurrence rates of genital intraepithelial neoplasia after CO2 laser treatment were 58% for women and 40% for men. No impact on quality of life or on sexual activity was reported in over 90% of patients. CONCLUSION: Whatever the treatment recommended for intraepithelial neoplasia, recurrence is frequent. CO2 laser is an effective and well-tolerated conservative therapeutic option. It enables rapid clinical remission, but as with all currently available treatments, long-term dermatologic follow-up remains necessary.

[Idiopathic lipoatrophic panniculitis in an adult treated with hydroxychloroquine and adipocyte grafting]. / Panniculite lipoatrophiante idiopathique de l'adulte traitée par hydroxychloroquine et autogreffe de cellules graisseuses.

BACKGROUND: Idiopathic lipoatrophic panniculitis is a rare disease. Various terms are used in the literature to describe similar entities: annular lipoatrophy of the ankles, lipophagic panniculitis and lipoatrophic panniculitis. In any event, it consists of an inflammatory process progressing to necrosis of the fatty tissue. PATIENTS AND METHODS: Herein we report the case of a 37-year-old woman presenting characteristic signs: erythematous, annular, symmetrical, painful, inflammatory lesions of the lower extremities, progressing to areas of atrophy with an indurated inflammatory periphery. Histopathology showed lobular panniculitis composed primarily of lymphocytes and macrophages. The etiological investigations ruled out all other causes of lobular panniculitis. The patient was successfully treated with hydroxychloroquine 400mg/day for 1 year and she subsequently underwent fat grafting on the secondary lesions. DISCUSSION: Our literature review identified 23 reported cases of idiopathic lipoatrophic panniculitis since 2006, including 10 cases of annular ankle lipoatrophy. The most commonly used treatments are corticosteroids, hydroxychloroquine and methotrexate, with good efficacy being seen on the inflammatory phase. This disease seems a good indication for fat grafting to limit aesthetic sequelae. CONCLUSION: Lipoatrophic panniculitis, a rare disease, results in significant aesthetic sequelae which may be limited by early treatment initiation. The benefit-risk ratio of hydroxychloroquine suggests its value as first-line therapy in this pathology. Our case also demonstrates the value of filling of the secondary atrophy by fat grafting after the inflammatory period has ended.

[Contiguous cutaneous inflammation secondary to an aspergillus sinusitis]. / Inflammation cutanée de contiguïté secondaire à une sinusite aspergillaire.

BACKGROUND: Contiguous skin inflammation is a poorly described entity. It constitutes a cutaneous manifestation of an underlying ongoing process (infectious, inflammatory or neoplastic). Sinusitis is a known cause. PATIENTS AND METHODS: We report the case of a 70-year-old patient consulting for an ongoing centrofacial inflammatory plaque. Cutaneous biopsy revealed a polymorphic inflammatory infiltrate, and cutaneous microbiological specimens were negative. A facial CT-scan showed left maxillary sinusitis. Intra-sinus samples obtained at surgery showed aspergillus. Voriconazole combined with maxillary sinus surgery resulted in healing of the facial plaque. DISCUSSION: There have been only two published cases of contiguous skin inflammation related to sinusitis but no reported cases caused by aspergillus sinusitis. Herein we report the third case of contiguous skin inflammation associated with sinusitis, which is also the first related to aspergillus sinusitis.

[Extensive connective tissue nevus in children]. / Hamartome conjonctif étendu de l'enfant.

BACKGROUND: Connective tissue nevus (CTN) is a rare condition of the extracellular matrix components that generally presents as papulae of normal skin colour. This condition may be syndromic or sporadic. PATIENTS AND METHODS: We report herein two isolated cases of extensive and infiltrative CTN in children at risk for subsequent joint stiffening. The pathology samples displayed respectively mixed hamartoma and a collagenoma. DISCUSSION: The onset of these lesions is often difficult to establish, since they are usually unnoticeable at first. When confronted with extensive CTN, the main differential diagnoses are eosinophilic fasciitis and morphea, and these must be ruled out by skin biopsy. CTN is associated with osteopoikilosis in Buschke-Ollendorf syndrome. Skeletal lesions are asymptomatic and are detected by means of iterative X-ray. Their management comprises symptomatic care.

[Cutaneous involvement in T-lymphoblastic lymphoma]. / Localisations cutanées d'un lymphome lymphoblastique T.

BACKGROUND: Lymphoblastic lymphoma (LBL) is a rare form of non-Hodgkin's lymphoma (NHL). Cutaneous LBL is seen in less than 20% of patients. PATIENTS AND METHODS: Herein, we report the case of a 66-year-old male patient without any previous disease history of note and who was presenting a gradually spreading tumoral lesion of the scalp, several purplish macules and nodules on the trunk, and a single spinal adenopathy. A thoracic-abdominal-pelvic CT scan performed for acute renal failure, revealed extensive infiltration of retroperitoneal tissue. Skin biopsies and staging tests indicated LBL-T with associated cutaneous, bone and lymph node retroperitoneal lesions with no mediastinal mass. After two months of treatment with CHOP (four courses), the cutaneous lesions and abdominal tumoral mass had regressed and renal function had returned to normal. DISCUSSION: There have been 13 reported cases of LBL with cutaneous involvement; most of these patients were young (under 30 years) and presented multiple cutaneous lesions (nodules or tumors) associated with numerous peripheral adenopathies, invasion of the bone marrow, and in many cases, a mediastinal mass. The clinical presentation of LBL-T in our case is novel on account of the cutaneous sites, associated with abdominal tumoral syndrome, without mediastinal infiltration, and with a single peripheral adenopathy, in an elderly subject.

Retropharyngeal liposarcoma: A rare cause of dysphagia.

INTRODUCTION: Liposarcoma is a rare malignant mesenchymal tumour. Very few cases of retropharyngeal liposarcoma have been reported in the literature. SUMMARY: A 30-year-old woman with no notable history reported swallowing disorders for the past year associated with dysphonia. Nasal endoscopic examination demonstrated a tumour arising from the left lateral pharyngeal wall, ascending as far as the junction of the free margin of the epiglottis, aryepiglottic fold, and pharyngoepiglottic fold and obliterating the ipsilateral pyriform sinus with preservation of cord mobility. The rest of the physical examination was normal. The preoperative assessment was completed by gadolinium-enhanced MRI of the neck. Open surgery was performed. Definitive histological examination concluded on dedifferentiated liposarcoma with negative resection margins. Following staging chest computed tomography that did not reveal any metastases, the multidisciplinary consultation meeting decided to deliver adjuvant volumetric modulated arc therapy. No recurrence was observed nine months post-treatment. DISCUSSION: Retropharyngeal liposarcoma is a rare tumour. The authors report the first case of a dedifferentiated histological subtype in this site. A review of the literature completes this case report by providing a description of prognostic factors and the various treatments.

Chronic active Epstein-Barr virus infection with cutaneous and sinus lymphoproliferation in a white female patient with 25 years' follow-up: an original case report.

Chronic active Epstein-Barr virus infection (CAEBV) is characterized by chronic infectious mononucleosis-like symptoms associated with very high viral load, as assessed by quantitative polymerase chain reaction. We present an unusual case in a French woman who was followed up over 25 years with cutaneous and sinus lymphoproliferation. This white woman presented with a long history of recurrent cutaneous necrotic papules of the skin, which started during childhood and healed spontaneously with depressed scars. The lesions spread to the left maxillary sinus and were associated with hepatomegaly and splenomegaly with no other visceral locations. Pathological examination of the skin and sinus revealed a dermal monoclonal T-cell lymphoproliferative disorder, CD7(+) and CD20(-) , with no epidermotropism. T-cell receptor rearrangement was positive, showing the monoclonality from the first biopsy. This T-cell proliferation was positive for EBV-encoded small RNA and was associated with a high EBV viral load. Since then, the patient has been in good health, despite a permanently high EBV viral load. Hydroa vacciniforme (HV)-like lymphoma and natural killer/T-cell lymphoma were discussed, but none really fit our case. Natural killer cell lymphoma was ruled out because of the indolent course, but sinus lesions do not exist in HV-like lymphoma. A therapeutic approach is difficult because of the coexistence of viral infection and monoclonal T-cell proliferation. Chemotherapy is not efficient and induces immunosuppression, which may worsen the prognosis. Although rituximab may have an immunomodulatory function, it was not effective in our case.

Two cases of aggressive nontumoral folliculotropic mycosis fungoides with visceral involvement.

Mycosis fungoides (MF) is the most common type of primary cutaneous T-cell lymphoma (CTCL), and folliculotropic MF (FMF) is one clinical variant of classic MF. MF generally has a good prognosis with an indolent clinical course, but for FMF greater therapeutic resistance is suggested. Visceral involvement is very rare in these two clinical forms. We report two exceptional cases of FMF with pulmonary and hepatic involvement. Five years after their initial diagnoses, patient 1 presented with a pulmonary localization of his FMF, and patient 2 with liver involvement, without lymph node or T-cell clones in the blood. These two patients had FMF corresponding to stage T2N0M1B0. These two cases highlight the aggressiveness of this rare variant of MF. They suggest that the T lymphocytes found in the folliculotropic form of CTCL could be characterized by greater visceral tropism. They raise the question of the molecular and functional characteristics of these T lymphocytes, and the possibility of a common target in the hair follicles and certain organs. Studies have shown that chemokine receptors are likely to be involved in the skin tropism that characterizes CTCL. These two cases show the aggressiveness of FMF and point to the interest in comparing the molecular characteristics of T lymphocytes in the folliculotropic and nonfolliculotropic forms of CTCL.

[An atypical form of Kimura's disease]. / Un cas de maladie de Kimura dans une forme atypique.

BACKGROUND: Kimura's disease is a rare benign chronic inflammatory disease of unknown aetiology. CASE REPORT: An 18-year-old atopic Brazilian patient consulted for recurrent facial eczema that improved slightly under topical corticosteroids. He presented a large infiltrated and eczematous subcutaneous plaque on the right supraorbital area, together with eyelid oedema. This was associated with complete right eyebrow alopecia, oedema of the upper lip and infiltrated facial papules. The tests showed hypereosinophilia (4000/mm(3)), a high IgE level (3786 kIU/L) and proteinuria (0.3g/24h). Histological examination revealed a lymphocytic eosinophil-rich inflammatory infiltrate in the superficial and deep dermis, with some lymphoid follicles in depth and proliferation of post-capillary venules. All of these elements led to the diagnosis of Kimura's disease. DISCUSSION: We report an unusual clinical form of Kimura's disease in a Brazilian patient. This disease has been classically described in young Asian men. In our case, a particularly large infiltrated and oedematous subcutaneous plaque was noted. In fact, the more common forms appear as subcutaneous nodules on the head and neck, which may be associated with locoregional adenopathy, involvement of the salivary glands, hypereosinophilia and raised serum IgE. In our case, the skin lesions, characterized by a large infiltrated and oedematous subcutaneous plaque, were unusual and could evoke IgG4-related disease. CONCLUSION: We report a case of Kimura's disease with an atypical presentation. The diagnosis was established by comparing certain histopathological features, and the possibility of IgG4-related disease was discussed.

Melanoma-associated retinopathy treated with ipilimumab therapy.

Melanoma-associated retinopathy (MAR) is a rare autoimmune syndrome in patients with melanoma characterized by visual disorders. MAR is induced by the degeneration of bipolar cells of the retina and the presence of serum autoantibodies against retina proteins. Ipilimumab, an anti-cytotoxic T lymphocyte-associated antigen 4 antibody, improves survival in previously treated patients with metastatic melanoma, but is responsible for a spectrum of immune-related adverse events. Administration of ipilimumab to patients with autoimmune diseases (such as MAR or vitiligo) is actually not recommended. We report a patient presenting with MAR occurring during a melanoma relapse. Surgery and chemotherapy had no effect on visual acuity and melanoma increased. In the absence of alternative antitumoral treatment, we focused on the vital prognosis and treated the patient with ipilimumab. Two years after the treatment the patient is free from new metastasis but has presented with exacerbation of vitiligo and MAR. In the very rare case of melanoma with autoimmune disease without a therapy option, ipilimumab could be discussed, taking into account the fact that it can be effective on tumor burden but can also increase autoimmunity.

[Infantile bullous pemphigoid]. / Pemphigoïde bulleuse du nourrisson.

BACKGROUND: Bullous pemphigoid (BP) is a form of autoimmune bullous disease commonly seen in adults but rare amongst children. Only a few cases have been described in children after vaccination. This article reports a new case of BP that occurred in an infant after a first vaccination. PATIENTS AND METHODS: A 3-month-old girl presented a bullous eruption 2 weeks after a first injection of Infanrix Quinta(®) and Prevenar(®). The eruption began on her palms and soles. It was associated with urticaria-like lesions on her thighs, chest and abdomen. A histological skin examination and direct immunofluorescence showed dermal-epidermal cleavage and IgG and C3 deposits in the epidermal basement membrane zone, which are typical features of BP. No antibodies against basement membrane were seen. Clinical remission was observed after 5 weeks of treatment with dermal-corticosteroids. Resumption of the vaccination schedule did not induce any recurrence of the disease. DISCUSSION: The clinical presentation of BP amongst children differs from that seen in adults, notably in terms of the predominance of palmoplantar lesions in children aged less than 1 year. In addition, lesions on mucous membrane are more frequently reported amongst older children. Histological findings are similar in all age groups. The outbreak of BP due to a vaccinal antigen appears hypothetical. However, continuation of the vaccination schedule did not induce any recurrence. Moreover, it is a rare disease amongst children despite the frequency of vaccinations in this population. CONCLUSION: Childhood BP is a diagnosis that should be considered in any case of bullous eruption, in particular if the palms and soles are affected. It is a benign disease that resolves in less than a year under treatment. The current data do not incriminate vaccines in the outbreak of childhood BP and suggest that continuation of vaccination is not contraindicated.