[Griscelli syndrome type 3: A new case]. / Syndrome de Griscelli de type 3 : un nouveau cas.

INTRODUCTION: Griscelli syndrome (GS) is a rare autosomal-recessive genetic disease characterized by hypopigmentation of skin and hair. We report a case of GS type 3 with late diagnosis. OBSERVATION: A 31-year-old female patient had presented depigmentation of the hair and eyebrows as well as diffuse skin hypopigmentation during childhood. Microscopic analysis of a hair shaft revealed irregularly distributed clumps of melanin. DNA sequencing showed a homozygous C103T (R35W) transition in exon 1 of MLPH, confirming Griscelli syndrome type 3. DISCUSSION: Three clinical phenotypes of GS have been described based on the underlying genetic defect. GS type 1 and 2 are associated respectively with a central nervous system dysfunction and an immune defect. GS type 3 is an isolated cutaneous form. Diagnosis is confirmed on microscopic examination of hair shafts. 15 cases of GS type 3 have been reported: 9 in males and 6 in females. Mean age at diagnosis is around 12 years. Nine of the reported patients were of Arab origin, four of Turkish origin, and one of Indian origin. R35W mutation was described in 9 cases and E98X and R35Q mutations were each found in one case. CONCLUSION: GS should be suspected in patients presenting gray silvery hair, particularly when these patients are of Arab or Turkish origin.

Secondary pulmonary syphilis: Case report and review of literature.

INTRODUCTION: Syphilis is a sexually transmitted disease that can affect numerous organs in its secondary or tertiary stages. We describe a case of secondary syphilis with pulmonary involvement and we present a literature review. PATIENTS AND METHODS: A 69-year-old male patient was admitted to hospital for dyspnoea and extended papular exanthema with palmoplantar involvement. The serological test for syphilis was positive. Ocular examination showed bilateral papillitis and retinal haemorrhage. Chest radiography revealed an interstitial alveolar infiltrate predominantly in the upper lobes, mild pleural effusion and hilar adenopathy. These infiltrates were slightly hypermetabolic on PET scan suggesting inflammatory or infectious origin. Treatment with intravenous penicillin G was effective on cutaneous, ocular and pulmonary manifestations. DISCUSSION: Lung involvement in secondary syphilis is poorly known and rarely described. We found 27 cases of pulmonary syphilis reported in English and the main European languages since 1967. Mean age at diagnosis was 46 years with clear male predominance (89%). HIV co-infection was declared in 5 cases. Treponema pallidum was found in 6 patients using PCR on bronchoalveolar lavage (BAL) (3 patients) or on a lung biopsy (1 patient), immunohistochemistry (IHC) on BAL (1 patient) and Giemsa staining on a pleural fluid sample (1 patient). Chest X-rays may show unilateral or bilateral infiltrates or nodules with or without pleural effusion or hilar adenopathy. Sub-pleural involvement is frequent and penicillin is the treatment of choice. CONCLUSION: Pulmonary syphilitic involvement should be suspected where pulmonary symptoms or radiological changes occur in secondary syphilis. IHC, special staining or PCR on BAL, pleural fluid or lung tissue are useful for the identification of spirochetes.

[Localized inflammatory alopecia of the scalp: an unusual presentation of tularemia]. / Plaque inflammatoire alopéciante du cuir chevelu : mode de révélation atypique d'une tularémie.

BACKGROUND: Tularaemia is a rare arthropod-borne zoonotic infection with 20 to 70 new cases being seen each year in France. Cutaneous ulceration and regional lymphadenopathy are the classical dermatological signs. Diagnosis of atypical forms is more complex. OBSERVATION: A 48-year-old woman was admitted for an erythematous papular alopecic lesion of the scalp accompanied by fever, chills and cervical lymphadenopathy. Initial antibiotic therapy for 20 days with amoxicillin clavulanate was ineffective. The patient's history included an episode of hunting in the forest three days before the onset of signs. Finally, serology led to the diagnosis of tularaemia. Combined levofloxacin and doxycycline resulted in regression of the scalp lesion and lymph node disorder. DISCUSSION: The existence of alopecia and location on the scalp did not initially suggest a diagnosis of tularaemia to us. The clinical presentation was highly suggestive of impetigo with satellite lymphadenopathies. However, resistance to antibiotics and the absence of inflammation militated against this diagnosis, and other possible diagnoses such as a tick-borne lymphadenopathy (TIBOLA), borreliosis and tularaemia were discussed. The most common clinical presentation of tularaemia is ulceroglandular tularaemia, which predominates in 80% of cases. The inoculation chancre at the point of initial infection is most often located in the upper limbs. CONCLUSION: An inflammatory plaque on the scalp with alopecia may reveal tularaemia, a potentially fatal disease resulting from inoculation.

[Desmoplastic Spitz nevus: a histopathological review and comparison with desmoplastic melanoma]. / Naevus de Spitz desmoplasique : analyse histopathologique et comparative avec le mélanome desmoplasique.

INTRODUCTION: Desmoplastic Spitz nevus is a rare variant of spitzoid tumours characterized by dermal proliferation of large epitheliod and/or fusiform melanocytes within a desmoplastic stroma, comprising thick, eosinophilic collagen bundles. It occurs most frequently in young adults and children, and exhibits a predilection for the limbs. Histologically, this entity may be mistaken for cutaneous fibrous tumours or desmoplastic melanoma. To establish useful histological criteria for differential diagnosis of desmoplastic Spitz nevus, we conducted a retrospective study comparing data concerning the clinical, demographic and histological characteristics of desmoplastic Spitz nevus and desmoplastic melanoma. PATIENTS AND METHODS: We reviewed the slides for 28 cases of desmoplastic Spitz nevus and for 13 cases of desmoplastic melanoma obtained from the files of Pinkus Dermatopathology Laboratory (Monroe, MI, USA) during the period 1993-2005. RESULTS: Desmoplastic Spitz nevus was more common in women (sex ratio M/F=0.4) and younger patients (mean age: 28.2 years) whereas the mean age of patients with desmoplastic melanoma was significantly higher (mean age: 75 years). From a histopathological point of view, symmetry, circumscription, melanocytic maturation and involvement of adnexal structure were significantly more frequent in desmoplastic Spitz nevi. The presence of melanocytic junctional nests associated with discohesive cells, variations in size and shape of the nests, lentiginous melanocytic proliferation, actinic elastosis, pagetoid spread, dermal mitosis, perineural involvement and brisk inflammatory infiltrate were significantly more frequent in desmoplastic melanoma. No significant difference was found concerning epidermal hyperplasia, presence of Kamino bodies or moderate inflammatory infiltrate. CONCLUSION: The combination of architectural and cytological features was useful in differentiating desmoplastic Spitz nevus from desmoplastic melanoma. A complete excision biopsy is mandatory in such tumors as the architectural criteria are necessary for a correct diagnosis.