[Increased glucose uptake by seborrheic keratosis on PET scan]. / Hyperfixation intense d'une kératose séborrhéique en TEP-TDM.

BACKGROUND: Positron emission tomography (PET) is an examination based upon the uptake of a radioactive tracer by hypermetabolic cells. It is primarily used in tandem with tomodensitometry (PET-TDM) for cancer staging because of its high sensitivity and specificity for the detection of metastases. However, unusually high uptake may occur with benign tumours, including skin tumours. Herein, we report an extremely rare case of pathological uptake levels resulting from seborrhoeic keratosis. PATIENTS AND METHODS: A 55-year-old male patient with oesophageal squamous-cell carcinoma was referred to us following the discovery of an area of high marker uptake following PET-TDM and corresponding to a pigmented skin lesion. No other areas of suspect high uptake were seen. The lesion was surgically excised and histological examination indicated seborrhoeic keratosis. The histological appearance was that of standard seborrhoeic keratosis without any notable mitotic activity. DISCUSSION: PET-TDM is an examination that enables diagnosis of malignancy. However, rare cases have been described of increased marker uptake by benign cutaneous tumours such as histiocytofibroma, pilomatricoma and condyloma. To date, there have only been only very few cases of increased uptake due to seborrhoeic keratosis. CONCLUSION: This extremely unusual case of increased glucose uptake in PET-TDM due to seborrhoeic keratosis confirms that the hypermetabolic activity detected by this examination is not necessarily synonymous with malignancy and that confirmation by clinical and histological findings is essential. The reasons for increased metabolic activity within such benign tumours are not known.

[Localized salt-dependent aquagenic urticaria: A case report]. / Urticaire aquagénique localisée à l'eau de mer.

BACKGROUND: Aquagenic urticaria is a rare but well-known form of physical urticaria mainly affecting young women. It is characterised by the appearance of erythematous and pruritic plaques a few minutes after initial contact with water and irrespective of temperature. The physiopathology of this condition remains poorly understood. Herein, we report a case of localised aquagenic urticaria occurring solely on contact with seawater. PATIENTS AND METHODS: A 32-year-old woman reported onset of erythematous and pruritic plaques, confined to the neck and lower part of the face, several minutes after the start of bathing in seawater. Skin tests were carried out by applying wet compresses soaked in seawater (37°C for 30 min) to the areas in which the skin reaction usually occurred. A control test using a compress soaked in fresh water was carried out under identical conditions. An urticaria reaction was noted in the areas in contact with seawater, but no reaction was seen in the areas coming into contact with fresh water. Antihistamines taken on the days of bathing proved ineffective. DISCUSSION: A number of similar cases have been reported in the literature, enabling the characterisation of this particular form of aquagenic urticaria and allowing its principal characteristics to be defined. It appears to be dependent solely on the salt content of the water. It is reported by young women while bathing in seawater. The urticaria plaques show a predilection for the neck and lower part of the face, as in our case, as well as the shoulders on occasion. The efficacy of antihistamines is inconsistent. The prevalence of this as yet poorly known entity is doubtless underreported.

Long-term follow-up and molecular characterization of a patient with a RECQL4 mutation spectrum disorder.

The follow-up of a man from birth to adulthood, presenting with features both of RAPADILINO and Rothmund-Thomson syndrome (RTS), is described. Molecular studies confirmed the presence of two different mutations, c.2767_2768delTT and c.3061C>T, in the RECQL4 gene. This gene is known to be causative of a spectrum including Baller-Gerold syndrome, RAPADILINO syndrome and RTS. New and rare features such as oral leukoplakia and very prominent hyperkeratotic verrucous papules on both soles are shown. This patient has to date no cancer history despite bearing a truncating mutation at the age of 21 years, which is also unusual.

[Skin necrosis during long-term fluindione treatment revealing protein C deficiency]. / Nécroses cutanées tardives sous fluindione révélant un déficit en protéine C.

BACKGROUND: Cutaneous necrosis is a rare complication of vitamin K antagonist therapy. It presents as cutaneous hemorrhagic necrosis and usually occurs at the start of treatment. We describe an atypical case of recurrent skin necrosis after two years of treatment with fluindione. CASE REPORT: A 70-year old woman with a history of venous thromboembolism and obesity presented with a large haemorrhagic necrosis of the abdominal wall. She had been treated with fluindione for two years. Genetic protein C deficiency was discovered. Resumption of vitamin K antagonist therapy was followed by recurrence of skin necrosis despite concomitant administration of heparin. Treatment with vitamin K antagonists could not be continued. DISCUSSION: This observation is unusual due to the late onset of skin necrosis. The condition usually begins shortly after initiation of vitamin K antagonist therapy, generally between the third and the sixth day of treatment. It is due to a transient hypercoagulable state in patients with protein C deficiency or, in rare cases, protein S deficiency. This late-onset skin necrosis, occurring many years after initiation of anticoagulant therapy, may be explained by a sudden worsening of pre-existing protein C deficiency due to infectious and iatrogenic factors.

[Folliculosebaceous cystic hamartoma: anatomo-clinical study]. / Hamartome folliculo-sébacé kystique : étude anatomoclinique.

BACKGROUND: Folliculosebaceous cystic hamartoma (FSCH) is a relatively recently described malformation with follicular and sebaceous components and a particular type of stroma with adipocytes. We conducted an anatomo-clinical study in order to clarify the clinical and histological characteristics of FSCH. MATERIALS AND METHODS: We included all cases of FSCH diagnosed between 1985 and February 2011 at our dermatopathology laboratory. Clinical information was obtained from medical records and requests for histological examination. RESULTS: We studied 25 cases of FSCH in 25 patients of mean age 51 years. The sex ratio was 1.3. The mean disease duration was 9 years. Lesions were described mainly as flesh-colored, occasionally pedunculated nodules and were found primarily on the face (60%). The diagnosis of FSCH had never been mentioned by the clinician. Histological examination revealed in all cases one or more follicular cystic structures surrounded by sebaceous glands in a stroma containing adipocytes. A number of variants were identified, such as the presence of a mucinous stroma, a neuroid component with protein S 100 expression, and rudimentary hair follicles in adjacent dermis. One case involved a proliferating cyst while another was on the scalp in the area of pre-existing radiodermatitis. Only one relapse was noted, 5 years after the initial excision. DISCUSSION: FSCH is a benign, underdiagnosed lesion, localized on the face, particularly on the nose. It is dome-shaped or pedunculated and grows slowly. Differential diagnoses include nevus lipomatosus superficialis and "sebaceous" trichofolliculoma. FSCH can be readily identified by the presence of adipocytes and a fibrous stroma. One case was unique in its appearance of a large pedunculated nodule with a proliferating cyst. Prior to the invidualization of this entity, such cases were interpreted as nevus lipomatosus superficialis or "sebaceous" trichofolliculoma, although their histological appearance was inconsistent with such a diagnosis.