Langerhans cell histiocytosis (LCH) represents a group of rare histiocytic syndromes characterized by tissue infiltration with dendritic cells. The management of LCH is difficult as these disorders respond inconsistently to immunosuppressive and chemotherapeutic strategies. Thalidomide (N-phtalimidoglutarimide), initially used as a tranquilizer, has recently been used in the management of several inflammatory skin diseases. We describe the case of a 38-year-old male with mucocutaneous LCH. A treatment course with 6 cycles of 2-chlorodeoxyadenosin (cladribine) was initiated. This was well tolerated but withdrawn after 6 months to prevent secondary malignancy. A partial remission was seen. Subsequently, a treatment course with thalidomide 200 mg daily was started. This therapy resulted in a significant improvement of the mucocutaneous lesions within 4 weeks and complete healing was achieved after 3 months. Treatment was then successfully continued with daily doses of 100 mg to prevent relapse. In conclusion, thalidomide monotherapy represents an effective, safe and well-tolerated treatment option that should be considered as first-line therapy for mucocutaneous LCH.

Six patients with Menkes syndrome are described, who differ from patients with the classical form of Menkes syndrome because of their longer survival; some of them also exhibited a milder manifestation of symptoms. Based on the present data and a summary of seven case reports describing Menkes patients with long survival, it may be possible to divide these patients into two subgroups: one group of severely affected patients with long survival and another group of very mildly affected patients with late onset of symptoms. Perhaps only the latter represents a true subgroup of Menkes syndrome. The possible benefits of copper therapy are discussed.

No abstract

No abstract

No abstract