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.

[A histological and immunohistological study of vascular and inflammatory changes in rosacea]. / Étude histologique et immunohistochimique des anomalies vasculaires et inflammatoires de la rosacée.

BACKGROUND: Rosacea has a number of pathophysiological components, chief of which are vascular abnormalities and inflammation. The morphology of the dilated vessels in rosacea may indicate an increase in the number and size of lymphatic vessels. We carried out a histological and an immunohistological study to quantify these abnormalities in rosacea and compared them with those seen in lupus erythematosus. MATERIALS AND METHODS: We reviewed all cases of rosacea analysed over a 4-year period. Ultimately, we only included 86 cases in which the diagnosis could be confirmed by a dermatologist based upon histopathological correlation and follow-up. All biopsies were reviewed for histopathological features, and 25 of these were compared with 25 facial biopsies in documented cases of lupus erythematosus, using standard staining followed by immunohistochemical analysis with anti-CD3, CD4, CD8 and CD20 (lymphocytic) antibodies, anti-CD68 (histiocytic) antibodies, anti-CD31 (endothelial cell) antibodies and anti-D2-40 (podoplanin, a marker for lymphatic endothelial cells) antibodies. RESULTS: In 88% of cases of rosacea, large superficial dermal vessels of geometrical or bizarre configuration were noted, and turgescent cells and dermal edema were frequently seen. Over 75% of cases involved Demodex, including erythemato-telangiectatic subtypes. The rosacea included a mean 15 vessels/mm(2), eight of which expressed D2-40; six were greater than 30µm in diameter (mean: 103µm; maximum: 400µm), with only two of these being D2-40+. The lupus erythematosus biopsies exhibited a mean 15 vessels/mm(2), nine of which expressed D2-40; four measured over 30µm in diameter (mean: 59µm; maximum: 100µm), of which two were D2-40+. The vessels measuring over 100µm were only seen in rosacea, and notable actinic elastosis was associated in 80% of these cases. No Demodex was seen in the lupus cases. The lymphocytic infiltration consisted mainly of CD4+ T cells in both groups, but was chiefly sub-epidermal in lupus, occasionally masking the small vessels of the superficial dermis. DISCUSSION: Rosacea is characterised by large, dilated, anfractuous capillaries, which are both larger and more numerous than in lupus, although there is no difference in dermal vascular density between the two diseases. Contrary to what their form may suggest, these dilated vessels are not lymphatic. D2-40+ vessels (lymphatic), which are flatter, are found in both lupus and rosacea. The association of large telangiectasias with actinic elastosis may indicate a causative role of exposure to UV radiation. These vessels likely exhibit increased permeability, resulting in dermal edema. Inflammation is consistently present, even in the early forms, strongly suggesting a dual inflammatory and vascular mechanism.

[Ehler-Danlos syndrome type VIII]. / Syndrome d'Ehlers-Danlos de type VIII.

BACKGROUND: Ehlers-Danlos syndrome (EDS) comprises a heterogeneous group of diseases involving genetic collagen fibre impairment. We describe a case of a patient presenting the rare type VIII, in which dermatitis ocre was associated with parodontal disease, and which was diagnosed late. CASE REPORT: A 29-year-old man consulted for a pretibial ulcer present for seven years, resulting from a post-traumatic haematoma that had failed to heal. In view of the longiliner morphology, it had previously been diagnosed as Marfan syndrome. Subsequently, edentation was observed as well as "alveolar bone fragility". Examination revealed a marfanoid morphotype, a pretibial ulcer set within long-standing bilateral dermatitis ocre and papyraceous scars, but no joint hyperlaxity or cutaneous hyperelasticity. The diagnosis was consequently corrected to EDS type VIII. DISCUSSION: Type VIII is a rare form of EDS, and the molecular mechanism is poorly understood. The involvement of parodontal connective tissue suggests impairment of collagen I and III proteins. It is important to identify this type of the disease since it involves parodontal disease for which early treatment is required in order to try to prevent edentation. The present case demonstrates the importance of diagnosis, which may be based upon appearance of bilateral dermatitis ocre from the age of 15 years associated with skin fragility. This sign is not part of the classical picture of Marfan syndrome, with which EDS type VIII is often confounded.

[Vulvar vestibulitis syndrome: a clinicopathological study of 14 cases]. / Syndrome des vestibulites vulvaires: étude anatomoclinique de 14 cas.

BACKGROUND: Vulvar vestibulitis syndrome (VVS) is one of the most frequent causes of superficial dyspareunia in young women. VVS has a pronounced psychological impact. The results of pathological studies published thus far are controversial. PATIENTS AND METHODS: Fourteen women with VVS were included in this study and underwent vestibular biopsy. Vulvar biopsies were taken from the orifice of Bartholin's gland. The biopsy samples were stained with a standard stain and PAS and 25 serial sections were prepared for each specimen. RESULTS: The mean patient age was 26 years and VVS had been present for a mean 30 months. Extensive inflammation of mononuclear cells was observed in the vulvar chorionic epithelium. This inflammation was seen mainly around the minor vestibular glands. Mild exocytosis of lymphocytes was noted in the vestibular glands and ducts. DISCUSSION: Most studies concerning this disease report chronic inflammation of the vulvar vestibular mucosa. This inflammation is seen mainly around the minor vestibular glands. We report the same pattern in our study. Moreover, we observed some exocytosis into the epithelium of minor vestibular glands and the excretory duct. This aspect has not been reported to date, further supporting the individual nature of this entity.