M. Steff

Hereditary leukonychia totalis, acanthosis-nigricans-like lesions and hair dysplasia: a new syndrome?

Leukonychia is an ungueal discoloration or dyschromia. The hereditary form is rare. In the observations reported in the literature, leukonychia was total or sub-total, and was sometimes associated to other various symptoms. We report an original observation of hereditary leukonychia totalis in a father and two of his children, associated with acanthosis-nigricans-like lesions and hair dysplasia. These symptoms were also present in eight other members of the same family.

Lichen sclereux acral

BACKGROUND Lichen sclerosus et atrophicus rarely affects the feet or hands and in this case, it is generally part of widespread cutaneous involvement. We report a case of lichen sclerosus et atrophicus involving only the extremities and the vulvar and perigenital area. PATIENTS AND METHODS A 56-year-old woman presented with lesions of the hands and feet, with ivory white papules on the dorsal aspect of the feet and the distal phalanx of the fingers, a few small keratotic papules with central depressions in the hollow of the palms, erythema on soles and thenar and hypothenar eminences. Further examination revealed lichen sclerosus et atrophicus of the vulva and genitocrural skinfolds. Histological study of these various cutaneous lesions yielded similar results and revealed the typical features of lichen sclerosus et atrophicus. DISCUSSION A few cases of lichen sclerosus et atrophicus confined to the hands and/or feet have been reported, involving the palms and soles or nail folds, but none has so far affected the genitalia. To our knowledge, no cases of lichen sclerosus et atrophicus involving both faces of the hands and feet and the genital region have ever been reported.

Bursite fistulisée à Mycobacterium intracellulare chez un adulte immunocompétent

BACKGROUND Cutaneous infections due to Mycobacterium intracellulare are infrequent. We report a case of bursitis in an immunocompetent patient. CASE-REPORT A 80-year-old patient with a history of tuberculosis reported swelling of the elbow for six months with effusion due to olecranon bursitis, progressing to an abscess and skin ulceration. Examination of the synovial fluid revealed the presence of M. intracellulare. Histologic investigations showed epithelioid and gigantocellular granulations. Screening for immunodepression was negative. Treatment with clarithromycin and rifabutin proved effective, with partial healing at three months, although hepatic and ocular side effects occurred. DISCUSSION While osteomyelitis, arthritis and cutaneous infections due to M. intracellulare have been described in immunocompromised patients, there are very few reported cases concerning immunocompetent individuals, and these suggest the possibility of special individual sensitivity to mycobacterial infections. Genetic mutations of the interleukin-12-interferon-gamma pathway involved in the immune response to mycobacterial infections have been demonstrated. Autoantibodies against interferon-gamma have also been described. Mycobacterium avium-intracellulare is resistant to the classical antibiotics used in tuberculosis. As in pulmonary infections, antibiotics with proven in vivo and in vitro efficacy must be used, taking into account the antibiogram and potential side effects, particularly for combined clarithromycin and rifabutin. CONCLUSION This case report emphasizes the benefits of routine mycobacterial investigation of synovial fluid samples.

Granulome annulaire élastolytique à cellules géantes

BACKGROUND Annular elastolytic giant-cell granuloma (AEGCG) is a rare form of granulomatous dermatosis characterized by annular plaques with central atrophy and raised erythematous margins and is usually located on the facial and neck areas. It is characterized histologically by loss of elastic fibre and elastophagocytosis. We report a case of AEGCG. CASE REPORT A 72-year-old man consulted for annular plaques, some of which were atrophic, and papules that had been present for 2 years. The lesions involved sun-exposed and non-sun-exposed skin. The biopsies showed granulomatous infiltrates and discrete elastophagocytosis. After ruling out various differential clinical and histological diagnoses, the patient was diagnosed with AEGCG. DISCUSSION We report a case of AEGCG. Diagnosis was not easy. The differential diagnoses of this entity were discussed and we ruled out actinic granuloma, sarcoidosis, leprosy, and granuloma annulare. Our patient presented the classical annular variant combined with a papular variant. We report the first case involving response to isotretinoin.

Histiocytome congénital : une lésion bénigne

BACKGROUND We report on a newborn presenting a solitary congenital skin nodule due to Langerhans cell histiocytosis. This benign lesion is rare and has been described in the literature under a variety of names; there is no consensus regarding treatment. CASE REPORT A 28-day-old newborn presented with a solitary congenital blue-brown nodule measuring 1cm on the left iliac fossa. Histological examination of a skin biopsy showed a proliferation of histiocytes throughout the dermis with an immunohistochemical profile of Langerhans cells. The lesion resolved spontaneously, with rapid reduction of the infiltration, and at 16 weeks only a pigmented scar remained. DISCUSSION Thirty-eight similar cases have been reported in the literature under a variety of different names. The lesions noted consisted of a solitary brownish nodule measuring 1cm which was congenital in almost all cases, often ulcerated and exhibited no predilection for any particular body site. Histological examination revealed dermal proliferation of Langerhans cells. Electronic microscopy revealed dense intracytoplasmic bodies and Birbecks granules. Laboratory and radiological tests did not show systemic involvement in any cases. All lesions other than those surgically removed regressed spontaneously within a mean 8 weeks. It appears necessary to differentiate between congenital and other forms of histiocytoma since therapeutic strategies differ. Spontaneous resolution of lesions and lack of systemic involvement militate in favour of simple clinical follow-up, with surgical excision and further tests required only for cases lasting 6 months and beyond.

Angiosarcome cutané de jambe sans lymphœdème associé

BACKGROUND Cutaneous angiosarcoma is a rare aggressive vascular neoplasm with a poor prognosis, seen chiefly in elderly subjects and usually on the scalp or face. The present case is original because of its localization on the leg without any chronic lymphoedema and because of the long survival period. The treatment modalities are discussed. CASE REPORT An 87-year-old woman presented with a rapidly growing large deep-purple ulcerated tumour on the anterior aspect of the leg. In addition, two nodules with a similar aspect appeared on the outer surface of the foot. Histological examination showed vascular channels lined with atypical cells consistent with a diagnosis of angiosarcoma. Computed tomography revealed no metastases. Amputation was performed at the thigh and there was no recurrence 30 months later. DISCUSSION The leg is a rare site of cutaneous angiosarcoma. Treatment usually consists of surgical excision with wide margins followed by radiotherapy, but in some cases amputation is unavoidable.