Ulcerated juvenile xanthogranuloma of the scalp

A 7-month-old girl presented with a single rapidly enlarging thickly crusted lesion on her frontal scalp. Histology was consistent with a juvenile xanthogranuloma (JXG) with ulceration and surface crust formation. Reports of ulcerating, crusted lesions of JXG are rare and the few reports have been confined to giant forms or those involving mucosal sites. This unusual presentation delayed diagnosis. Our report highlights the great variability in clinical presentation of JXG and is a reminder to consider this diagnosis in the differential of any lesion developing in an infant, particularly on the head, neck and upper trunk.     

Multicentric reticulohistiocytosis

BACKGROUND: Multicentric reticulohistiocytosis (MR) is a rare histiocytic systemic disease mainly affecting the skin and synovia. OBJECTIVE: To present the main and newest aspects of MR. METHOD: A review of the current medical literature, composing a retrospective study of 96 case reports published world-wide since 1977. RESULTS: Facial and hand skin nodules with symmetric arthritis were the most frequent clinical presentation. The pathognomonic sign of'coral beads' and vermicular erythematous lesions bordering nostrils, seems to be very characteristic of MR. There is a significant association with cancer. Histiocytic cells of MR are best characterized on immunohistochemistry by its immunoreactivity for vimentin, CD68 and CD45 and non-reactivity for S-100 protein, CD34 and factor XIIIa. Although the outcome of the disease is usually very limiting for the patients, treatment with immunosuppressive drugs may be useful. CONCLUSION: MR is a unique histiocytic proliferative disease with a peculiar immunophenotypic pattern and distinctive clinical and histopathological aspects.     

Rare association of xanthoma disseminatum with skeletal involvement

A ten-year-old boy presented with a 2.5-year history of painful shoulder and hip joints, 1.5 years of yellow-brown papules and plaques on the face, flexures and trunk, and 6 months of polyuria and polydipsia. Skin biopsy revealed histological and immunohistochemical features typical of xanthoma disseminatum. Lytic bone lesions were seen in the femur and pelvis and sclerotic changes in the humerus on X-ray. Diabetes insipidus was also diagnosed     

Treatment of xanthoma disseminatum with cyclophosphamide

Xanthoma disseminatum is a rare non-Langerhans cell (class II) histiocytosis, which is often resistant to treatment. We describe an illustrative case with extensive mucocutaneous, ocular, laryngeal, pituitary and central nervous system involvement, which responded to treatment with cyclophosphamide. The presentation, course and treatment of the condition are reviewed. Many of the non-Langerhans cell histiocytoses represent a spectrum of diseases of dermal dendrocytes ranging from self-limiting and benign conditions to multisystem progressive diseases that respond poorly to treatment and severely impair quality of life. We suggest that chemotherapy should be considered at an early stage in the more aggressive subtypes of non-Langerhans cell histiocytoses.     

Langerhans cell histiocytosis involving the skin of an elderly woman: a satisfactory remission with oral prednisolone alone

Langerhans cell histiocytosis (LCH) is a disorder characterized by neoplastic proliferation of Langerhans cells that rarely involves the skin in adults. A 74-year-old woman presented with a fourteen year history of eosinophilic granuloma and bone involvement caused by LCH. She had received three combination therapy courses of curettage and radiation since 1987 and had remained free of LCH signs for seven years, after which she started to notice brown nodules on her left leg. Biopsy specimens taken from the lesions showed massive proliferations of large histiocytic cells. Immunoperoxidase stainings for CD1a and S-100 protein were positive. Electron microscopy identified Birbeck granules in the cytoplasm of the atypical Langerhans cells. Treatment with oral prednisolone alone has resulted in the patient remaining in complete remission for 12 months.     

Erdheim-Chester Disease

Erdheim-Chester disease (ECD) is a rare, non-Langerhans cell histiocytosis of unknown etiology, characterized by multi-organ involvement. ECD is usually diagnosed on the basis of characteristic radiologic and histopathological findings. Lesions may be skeletal and/or extraskeletal in location, and may include the skin, lung, heart, and central nervous system. We describe here a 68-year-old man with multiple yellowish plaques and a pinkish nodule on his face and scalp. He had been previously diagnosed with diabetes insipidus, and recently complained of coughing and dyspnea. Imaging studies showed multiple osteosclerotic lesions of the bones, a moderate amount of pericardial effusion, and multifocal infiltrative lesions in the perirenal space. Histopathological examination of the skin lesions revealed dermal infiltration of foamy histiocytes with multinuclear giant cells. Moreover, laparoscopic biopsy of the perirenal tissue revealed fibrosis with infiltrating foamy histiocytes being CD68-positive and S100-negative. Based on these findings, he was diagnosed with ECD with extraskeletal manifestations, and treated with interferon-alpha.     

Coexistence of localized Langerhans cell histiocytosis and cutaneous Rosai-Dorfman disease

Rosai-Dorfman disease (RDD; sinus histiocytosis with massive lymphadenopathy) and Langerhans cell histiocytosis (LCH) are two different yet pathogenetically related histiocytic disorders. While systemic and localized forms have been identified in both diseases, each has its own characteristic histological, immunohistochemical and ultrastructural profile. Rarely, either RDD or LCH can also occur in the context of certain malignant neoplasms. However, the coexistence of RDD and LCH has never been described. We report a case of cutaneous RDD in which a focus of LCH was found. Clinical and laboratory examinations revealed no evidence of extracutaneous involvement of RDD or LCH. We believe that this is the first report of such a coexistence, and the possible pathogenesis is discussed.     

Langerhans cell histiocytosis mimicking lichen nitidus with bone involvement

We report the case of a 6‐month‐old Hispanic boy with a 4‐month history of widespread pruritic hypopigmented papules mimicking lichen nitidus. The final diagnosis was multisystem non‐risk‐organ Langerhans cell histiocytosis (LCH), with cutaneous and multiple bone involvement. With this patient and others previously reported in the literature, we suggest an early biopsy of the hypopigmented rash in children.     

Histiocytosis with mixed cell populations

Langerhans cell histiocytosis (LCH) and juvenile xanthogranuloma (JXG) are thought to originate from a common stem cell precursor, with divergent differentiation under different microenvironmental conditions. We describe an exceptional case of multiple cutaneous lesions in a 10‐year‐old boy, in which the coexistence of both LCH and JXG cell populations is found in every single lesion. The presence of Birbeck granules and CD207 (langerin) immunostaining in the LCH component would argue against the diagnosis of indeterminate cell histiocytosis (ICH). This unique case gives additional support to the hypothesis of a potentially common histogenesis for LCH and JXG.     

Indeterminate cell histiocytosis in a Chinese patient with progressive and extensive nodular lesions and mixed indeterminate cell and macrophage‐monocyte lineage

Indeterminate cell histiocytosis (ICH) is an extremely rare cutaneous neoplastic disorder. It has the immunophenotypic features of both Langerhans and non‐Langerhans cell histiocytosis. We report here a case of a healthy young Chinese woman who presented with disfiguring, thick, infiltrated cutaneous nodules on the face, trunk and extremities which appeared progressively over a period of 4 years. No systemic involvement has been detected so far. Results of a skin biopsy showed diffuse dermal infiltration of histiocytoid cells with indented nuclei and positive staining for S100 and CD1a and negativity for CD207 (langerin). Admixed within were some CD68‐positive foamy histiocytes and multinucleated giant cells with focal expression of CD163. Although the clinical presentation is more typical of progressive nodular histiocytosis, the histology and immunoprofile is consistent with ICH. Our report adds to the limited case reports in the current literature of ICH in the Chinese population.     

Unilesional self‐limited Langerhans cell histiocytosis: a case report and review of the literature

Self‐limited Langerhans cell histiocytosis (LCH) represents a rare, congenital, cutaneous form of LCH associated with a good prognosis. Only 35 cases of solitary lesion self‐limited LCH have been reported. Herein, we present an additional case in a 3‐month‐old boy who presented with an isolated pigmented nodule on his left posterior shoulder, which had been present since birth. Punch biopsy showed histopathologic features of LCH with positive CD1a and CD68 stains. Further examination and investigation showed no features of systemic involvement. The lesion spontaneously resolved within 2 months, and there has been no evidence of recurrence on follow up. As several cases of recurrence and complications have been reported in self‐limited LCH, we emphasize the need for long‐term, and perhaps indefinite, follow up for symptoms and signs associated with LCH in these patients.     

Pure cutaneous Langerhans cell histiocytosis resembling varicella

A 5-month-old boy presented with multiple, pinkish-yellow, umblicated, varicelliform vesicles on his trunk. The lesions first appeared on his scalp 2 months earlier. There was also an erythematous, moist and erosive eruption on both axillae, inguinal regions and intergluteal sulcus. He had been treated with topical antibacterial and antiviral therapies. Histopathological investigation of the lesions revealed the diagnosis of Langerhans cell histiocytosis. Systemic involvement was not detected, although detailed investigation was performed. We present our case because he had a varicelliform and intertriginous eruption but did not have internal organ and haematological involvement.     

Solitary congenital Langerhans cell histiocytoma: A pattern of benign,spontaneous regression in patients with single lesion disease

Langerhans cell histiocytosis (LCH) is the neoplastic proliferation of dendritic langerin-positive histiocytes manifesting as either single system unifocal, single system multifocal, or multisystem disease. The designation Hashimoto-Pritzker, or self-healing LCH, has fallen out of favor since it is impossible to predict at time of diagnosis whether the disease is truly self-remitting or capable of spreading to other organ systems. We review the English literature on solitary congenital Langerhans cell histiocytoma, draw novel conclusions from the data provided by 81 cases in the literature, and illustrate a typical presentation of the diagnosis with a previously unreported patient. Each of the patients diagnosed with solitary congenital histiocytoma experienced spontaneous resolution and had no signs of systemic disease at latest follow-up. Furthermore, we offer an analysis of the histopathological findings available from the 81 cases and our patient. Based on our study observations, we propose solitary congenital Langerhans cell histiocytoma may portend a good prognosis and represent a distinct entity. However, until further confirmation with prospective studies, we recommend clinicians continue conducting appropriate workup to rule out systemic involvement.     

未定类细胞性组织细胞增生症

报告1例未定类细胞性组织细胞增生症。患者男，46岁。全身出现大小不等的丘疹，结节3年，皮损组织病理检查示：真皮内有较一致的单个枝细胞的浸润团块，免疫组化染色结果示：S-100（ ），CDla( ),电镜检查未找到Birbeck颗粒。     

朗格汉斯组织细胞增生症1例并文献复习

报告1例以皮肤损害就诊的朗格汉斯组织细胞增生症.患儿男,2岁半,因头面、躯干、下肢红斑、丘疹、脓疱一年半入院.皮肤组织病理检查:大量单个核细胞弥漫分布于真皮乳头层并向表皮侵入,单个核细胞体积较大,胞质淡染,核折叠成肾形,中央空泡化,可见线状沟,呈咖啡豆样外观.免疫组织化学法:CD1α及 S-100染色阳性.诊断为朗格汉斯组织细胞增生症.同时结合相关文献对朗格汉斯组织细胞增生症的临床表现、诊断和预后等进行分析.     

Congenital “self‐healing” Langerhans cell histiocytosis (Hashimoto‐Pritzker disease): A report of two cases with the same cutaneous manifestations but different clinical course

Congenital self‐healing Langerhans cell histiocytosis or Hashimoto‐Pritzker disease is a rare condition present at birth or in the neonatal period characterized by small reddish‐brown crusted papulonodular lesions. In most cases these lesions are not accompanied by systemic findings and tend to involute spontaneously within weeks or months, but in other cases there may be extracutaneous involvement and/or recurrence of the disease. This emphasizes that the clinical course is variable and a long‐term follow‐up is mandatory in order to reveal possible systemic involvement. We describe two cases of congenital self‐healing Langerhans cell histiocytosis with widespread and very similar cutaneous manifestations but different clinical course. The first patient had multisystemic disease (with lymph nodes, bones, liver and lungs affected) that required systemic therapy. The second patient had cutaneous and bony lesions that resolved spontaneously. We think that the adjective “self‐healing” is misleading and should be abandoned. We stress the importance of a complete systemic evaluation and the necessity of a long‐term follow‐up.