1/32. Ocular involvement in a case of systemic indeterminate cell histiocytosis: a case report.PURPOSE: To describe ocular involvement in a case of systemic indeterminate cell histiocytosis, a rare disease characterized by the proliferation of indistinct histiocytes. These histiocytes resemble langerhans cells but lack Birbeck granules. The disease usually occurs in adults, with no predisposition for either sex. The clinical features include multiple asymptomatic nodules and cutaneous papules. There are no previous reported cases in the literature regarding ocular indeterminate cell histiocytosis and its treatment. methods: A patient with skin papules and hyperpigmentation associated with systemic involvement and corneal infiltration was diagnosed with systemic indeterminate cell histiocytosis after a skin biopsy. Immunohistochemical examination showed specific surface proteins of indeterminate cells, and electron microscopy showed Langerhans-like cells without typical Birbeck granules. Progressive and severe photophobia and corneal thickening made bilateral corneal transplant necessary. RESULTS: visual acuity remained stable because of the use of systemic immunosuppressors, which decrease the recurrence of infiltration after a corneal transplant. CONCLUSION: Indeterminate cell histiocytosis is a rare disease and there is no previous description of ocular involvement. Infiltrating lesions must be treated with corneal transplant and systemic cyclosporin if they decrease visual acuity.- - - - - - - - - - ranking = 1keywords = rare disease (Clic here for more details about this article) |
2/32. Nodular cutaneous amyloidosis involving the glan penis: report of a case.Nodular cutaneous amyloidosis is a rare disease that predominantly affects women in their sixth and seventh decades. The genital organ is the rarest cutaneous location with only four reported cases of vulvar involvement. We report the first known case of this entity involving the glan penis. The clinical feature of nodular cutaneous amylodosis, the histopathology, the pathogenesis and the therapy are discussed.- - - - - - - - - - ranking = 0.5keywords = rare disease (Clic here for more details about this article) |
3/32. Disseminated acanthamebiasis in a renal transplant recipient with osteomyelitis and cutaneous lesions: case report and literature review.Disseminated acanthamebiasis is a rare disease that occurs predominantly in patients with human immunodeficiency virus (hiv) infection or acquired immunodeficiency syndrome but also in immunosuppressed transplant recipients. Few reports have focused on non-hiv-infected patients, in whom the disease is more likely to go unsuspected and undiagnosed before death. We describe a renal transplant recipient with acanthamoeba infection and review the literature. The patient presented with osteomyelitis and widespread cutaneous lesions. No causative organism was identified before death, despite multiple biopsies with detailed histological analysis and culture. Disseminated acanthamoeba infection was diagnosed after death, when cysts were observed in histological examination of sections of skin from autopsy, and trophozoites were found in retrospectively reviewed skin biopsy and surgical bone specimens. In any immunosuppressed patient, skin and/or bone lesions that fail to show improvement with broad-spectrum antibiotic therapy should raise the suspicion for disseminated acanthamebiasis. Early recognition and treatment may improve clinical outcomes.- - - - - - - - - - ranking = 0.5keywords = rare disease (Clic here for more details about this article) |
4/32. Extramedullary hematopoiesis in an adult.Cutaneous extramedullary hematopoiesis is a rare disease, affecting mainly children with intrauterine viral or hematologic disorders. To our knowledge, only about 30 cases have been reported in adults, mainly associated with myelofibrosis. We report a new case of this entity in a 79-year-old woman and comment on the clinical and histologic differential diagnosis.- - - - - - - - - - ranking = 0.5keywords = rare disease (Clic here for more details about this article) |
5/32. Cardiopulmonary complications in multicentric reticulohistiocytosis. Report of a case.Multicentric reticulohistiocytosis (MR) is a rare disease. Only recently was its systemic nature appreciated. It affects the skin, mucous membranes, joints, muscles, tendon sheaths, synovial membranes, bones, liver, kidney, lymph nodes, heart, and lungs. Our patient, a 50-year-old woman, had life-threatening cardiopulmonary complications of MR. The connection between the skin lesions, the arthritis, and the pathologic changes in the heart and lungs is still obscure.- - - - - - - - - - ranking = 0.5keywords = rare disease (Clic here for more details about this article) |
6/32. Management of cutaneous manifestations of extensive purpura fulminans in a burn unit.purpura fulminans is a rare disease, which may have devastating cutaneous manifestations. It usually follows an infectious illness, and although it most commonly occurs in children, it can occur in adults. The pathogenesis may be related to a relative deficiency of protein c and/or protein s. A case of an adult male is presented to illustrate the management of the severe full-thickness skin loss and the use of surgical excision and allograft in this disease.- - - - - - - - - - ranking = 0.5keywords = rare disease (Clic here for more details about this article) |
7/32. Acute hemorrhagic edema of infancy: a case report.BACKGROUND: Acute hemorrhagic edema of infancy (AHEI), or Seidlmayer's disease, is a type of leukocytoclastic vasculitis proper of infants and children. It is characterized by a local increase in temperature, erythematous edema and purpuric lesions involving mainly the face and extremities. There usually is no visceral involvement. The disease is self-limited, bearing a benign clinical course. infection, drugs and immunization have been considered as precipitating factors. The main differential diagnosis is Henoch-Schonlein purpura (HSP). methods: We describe a classic example of acute hemorrhagic edema of infancy, and comment on the clinical features, pathology, immunopathology and proposed therapy. We characterize the differences between AHEI and HSP. RESULTS: A course of corticosteroids was given to avoid quick progression of disease. CONCLUSION: Acute hemorrhagic edema of infancy is a rare disease, and the most striking classic feature of the disease is the contrast between the acuteness of the cutaneous lesions and the good general condition of the patient. Considering its clinical features, pathology and immunopathology, AHEI can be justifiably characterized as a unique disorder, distinct from HSP.- - - - - - - - - - ranking = 0.5keywords = rare disease (Clic here for more details about this article) |
8/32. Intracranial paramedian hourglass-shaped dermoid associated with hereditary steatocystoma multiplex.This is the first report to describe the coexistence of two rare diseases, intracranial paramedian hourglass-shaped dermoid and steatocystoma multiplex. A 46-year-old female with a history of steatocystoma multiplex, bradydactylies and kyphosis showed oscillopsia, ataxia and hemifacial spasm. MRI findings suggested a giant dermoid cyst extending from the left middle temporal fossa to the cerebellopontine angle, and this was confirmed surgically. We propose the involvement of some genetic factor or pathological process common to both disorders, steatocystoma multiplex and dermoid. From the clinical point of view, patients with cystic skin lesion should also be checked for intracranial lesion.- - - - - - - - - - ranking = 0.5keywords = rare disease (Clic here for more details about this article) |
9/32. Scar sarcoidosis in childhood: case report and review of the literature.sarcoidosis is a rare disease among children, manifesting differently in children below and above 4-5 years of age. Although the exact incidence and prevalence of childhood sarcoidosis is not known, the cutaneous involvement is frequent in both children and adults. Infiltration of old cutaneous scars with sarcoid granuloma in the active phase of disease, known as scar sarcoidosis is one of the uncommon cutaneous manifestations of sarcoidosis. We report a case of scar sarcoidosis in an 11-year-old child along with a brief review of the literature.- - - - - - - - - - ranking = 0.5keywords = rare disease (Clic here for more details about this article) |
10/32. Cutaneous reactive angiomatosis occurring in erythema ab igne can cause atypia in endothelial cells: potential mimic of malignant vascular neoplasm.erythema ab igne (EAI), an old and rare disease, is an erythematous, often pigmented, reticular, macular dermatosis that occurs at the site of repeated exposure to moderate heat. Reported herein is an unusual case of EAI occurring in a 33-year-old woman with a very broad lesion of reticular erythema and pigmentation on the lower extremities. The patient frequently put her lower extremities close to a heater in the wintertime to alleviate chill. The lesion started a decade ago, and it gradually became conspicuous. Microscopic findings showed a proliferation of small blood vessels in a thickened papillary dermis, not as typical as seen in EAI, but as seen in cutaneous reactive angiomatosis. They were arranged as small lobules and associated with hyalinization, edema and delicate fibroplasia. Many vessels were lined by plump endothelial cells, some of which had enlarged hyperchromatic nuclei. Many of these cells were multinucleated. Similar-appearing cells were associated with concentric foci of hyalinization without vascular lumina. A few atypical mitoses were observed. The lesion became much less conspicuous after the patient started avoiding close exposure to a heater, without any other special treatments. The aforementioned changes may be confused with malignant vascular neoplasm because of unusual cytological atypia and atypical mitoses in the endothelial cells.- - - - - - - - - - ranking = 0.5keywords = rare disease (Clic here for more details about this article) |
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