Intestinal lymphangiectasia in a patient with infantile systemic hyalinosis syndrome: a rare cause of protein-losing enteropathy

Infantile systemic hyalinosis [ISH] is a rare autosomal recessive disease. Typically, ISH patients present with progressive painful joint contractures, intractable diarrhea, hyperpigmented skin lesions, and perianal fleshy nodules. We report a case of a 19-month-old male child with atypical ISH presentation. His main clinical finding was protein-losing enteropathy due to intestinal lymphangectasia. This report is intended to enhance awareness about the gastrointestinal tract presentation of ISH

Hyalinizing clear cell carcinoma of the base of tongue: A distinct and rare entity.

Hyalinizing clear cell carcinoma (HCCC) of tongue is a rare neoplasm originating from minor salivary glands. We present a case of HCCC involving the base of tongue, in a 73-year-old male, clinically diagnosed as fibroma. Laser excison of the mass was done. Histopathological examination showed an infiltrating lesion composed predominantly of clear clear. The differential diagnosis included other salivary gland lesions having a clear cell component and metastatic clear cell renal carcinoma. lmmunohistochemistry was useful in ruling out these lesions exhibiting clear cell component from clear cell carcinoma. imaging studies revealed no lesion in either kidney. Since, HCCC has a better prognosis and the adequate treatment is wide excision, it needs to be differentiated from other carcinomas with clear cells. No further therapy was given to the patient. One year after the surgery, the patient is symptom free without local recurrence and on regular follow up.

Immunohistochemical identification of plasma protein deposits in the wall of lenticulostriate arteries in patients with long-standing hypertension, with and without lipohyalinosis / Identificação imuno-histoquímica de depósitos de proteínas plasmáticas na parede das artérias lentículo-estriadas em pacientes com hipertensão arterial de longa duração, com e sem lipo-hialinose

PURPOSE: To investigate, through an immunohistochemical method, whether there is deposition of plasma proteins in the wall of lenticulostriate, cortical and leptomeningeal arteries of hypertensive patients, with and without lipohyalinosis. METHOD: Forty patients with essential hypertension were selected at random, 20 with lipohyalinosis in the lenticulostriate arteries (HH group) and 20 without lipohyalinosis (H group), matched with 20 normotensive controls (C group). RESULTS: Plasma protein deposits were identified in eight patients (40 percent) in the C group, in 15 patients (75 percent) in the H group, and in all 20 patients (100 percent) in the HH group, the difference being significant for the H group and highly significant for the HH group, as compared with the C group. In all groups, the distribution of plasma protein deposits, subendothelial in normal arteries, and diffuse, irregular in the wall of arteries with lipohyalinosis, was more frequent in the lenticulostriate arteries of the putamen. CONCLUSION: Deposition of plasma proteins in the lenticulostriate arteries seems to be relatively frequent in normotensive individuals, starting in middle age. Such process appears to be intensified by hypertension, especially in individuals with lipohyalinosis.

PROPÓSITO: Investigar, por meio de método imuno-histoquímico, a deposição de proteínas plasmáticas na parede das artérias lentículo-estriadas, corticais e leptomeníngeas em pacientes com hipertensão arterial, com e sem lipo-hialinose. MÉTODO: Quarenta pacientes com hipertensão arterial foram selecionados aleatoriamente, sendo 20 com lipo-hialinose nas artérias lentículo-estriadas (grupo HH) e 20 sem lipo-hialinose (grupo H), pareados com 20 controles normotensos (grupo C). RESULTADOS: Depósitos de proteínas plasmáticas foram identificados em oito pacientes (40 por cento) do grupo C, em 15 pacientes (75 por cento) do grupo H e em todos os 20 pacientes (100 por cento) do grupo HH, a diferença sendo significativa para o grupo H e altamente significativa para o grupo HH, quando comparada com o grupo C. Em todos os grupos, a distribuição dos depósitos de proteínas plasmáticas, subendotelial em artérias normais e difusa, irregular, na parede das artérias com lipo-hialinose, foi mais freqüente nas artérias lentículo-estriadas do putâmen. CONCLUSÃO: A deposição de proteínas plasmáticas nas artérias lentículo-estriadas parece ser um fenômeno relativamente freqüente em indivíduos normotensos, a partir da meia-idade. Tal processo parece ser intensificado pela hipertensão arterial, particularmente naqueles pacientes com lipo-hialinose.

Juvenile hyaline fibromatosis and infantile systemic hyalinosis: divergent expressions of the same genetic defect?

We describe here a three year-old girl with classic clinical and histological features of juvenile hyaline fibromatosis. We found a history of similar skin findings in her eldest sister, in whom the disorder took a rapidly progressive and fatal course in the second year of life, suggesting either a very severe form of juvenile hyaline fibromatosis, or the possibility of infantile systemic hyalinosis. The similarities and differences between these two described types of hyalinoses have been reviewed in reference to the present report.

Pleomorphic hyalinizing angiectatic tumour of soft parts: a case report and review of the literature

Pleomorphic hyalinizing angiectatic tumour (PHAT) is a recently described, rare, low-grade soft tissue neoplasm. The lesion is characterized by clusters of hyalinized and thrombosed ectatic vessels alternating with a variably cellular stroma composed of atypical cells, many with intranuclear pseudoinclusions. Other features are inflammatory cell infiltration, haemosiderin deposits, focal calcificationand minimal to absent mitoses. No metastases have so far been described; however, the local recurrence rate has been found to be high. To date, approximately 60 such cases of PHAT and its precursor, “early PHAT”, have been described in the world literature. We report the first known case of PHAT from this institution which occurred in the left loin of a 77-year old woman. Three years previously, a smaller lesion excised from the same location had been called an ancient schwannoma on histology. This is the most commondifferential diagnosis offered for this entity even though the two differ in immunohistochemical profile. ‘Early PHAT’ was also identified on the periphery of the recurrent lesion.

El tumor pleomórfico hialinizante angioectásico (TPHA) – entidad rara, de reciente descripción – es un neoplasma del tejido blando, de bajo grado. La lesión se caracteriza por la presencia de racimos de vasos ectásicos trombosados e hialinizados, que alternan con un estroma celular variable compuesto de células atípicas, muchas de ellas con pseudoinclusiones intranucleares. Otrascaracterísticas son: la infiltración celular inflamatoria, los depósitos hemosiderínicos, la calcificaciónfocal, y la mitosis mínima o ausente. Hasta el presente no se han descrito metástasis. Sin embargo, se ha hallado que la tasa de recurrencia local es alta. Hasta la fecha, aproximadamente 60 de estos casos de TPHA y su precursor el “TPHA temprano”, han sido descritos en la literatura mundial. Reportamosel primer caso de TPHA conocido de esta institución – una anciana de 77 años de edad, a quién se le presentó en la región lumbar izquierda. Tres años antes, una lesión más pequeña extirpada del mismolugar, hubiera sido llamada un schwannoma antiguo en histología. Este es el diagnóstico diferencial más común ofrecido para esta entidad, aun cuando los dos difieren en cuando a perfilimunohistoquímico. El TPHA temprano fue identificado también en la periferia de la lesión recurrente.

Biopsia rectal quirúrgica en el diagnóstico de enfermedades por depósito / Surgical rectal biopsy for the diagnosis of diseases caused by abnormal protein deposits

Se presenta nuestra experiencia con la utilización de la biopsia rectal quirúrgica en el diagnóstico de las enfermedades por depósito. Se trata de una revisión retrospectiva de 9 pacientes, 4 varones, con una edad promedio de 30,5 años (extremos 4-67). En 4 pacientes la indicación fue por sospecha de amiloidosis sistémica, lo que se confirmó en tres de ellos. En 5 casos la indicación estuvo condicionada por patología neurológica, 4 de ellos por sospecha de enfermedad por inclusión hialina, lo que se confirmó en 3. En el paciente restante, la biopsia fue solicitada con el fin de excluir una enfermedad por inclusión hialina. La biopsia fue tomada en pabellón bajo anestesia regional o general, lo que permite una dilatación anal óptima, facilita la toma de una muestra adecuada de grosor mediano y permite una hemostasia cuidadosa. En esta serie no hubo sangrado ni reintervenciones. Tres pacientes refieren dolor anal que estuvo relacionado con la extirpación adicional de plicomas. La biopsia rectal de grosor mediano es un procedimiento quirúrgico cuya utilidad esta definitivamente establecida en el estudio de las enfermedades por depósito. Por el hecho de ser un procedimiento invasivo que requiere anestesia en pabellón, sus indicaciones deben ser precisas y aplicadas a pacientes con un riesgo quirúrgico aceptable.

Castleman's disease, intermediate type: a case report.

Castleman's disease or giant lymph node hyperplasia is a distinct form of lymph node hyperplasia. Histologically, there are 2 variants, hyaline vascular variant which occurs in 90% of the cases and plasma cell type which is rare. We encountered a 70 year old man with Castleman's disease showing intermediate features consisting of both hyaline vascular and plasma cell elements presenting as cervical lymphadenopathy. Following surgical excision, the patient was relieved of his constitutional symptoms and had no recurrence even after 6 months of follow-up.

Juvenile hyaline fibromatosis: a case report.

Juvenile hyaline fibromatosis (JHF) is a rare, autosomal recessively inherited disorder characterized histologically by deposition of hyaline, collagen like substance aberrantly synthesized by the cells of the connective tissue and deposited within many organs, typically within the skin, gingiva, joints and bones. We report this rare case of Juvenile hyaline fibromatosis in a young boy who presented clinically with multiple papulonodular skin lesions, non tender soft tissue masses over the scalp, face, anterior chest wall, back, periarticular regions of the extremities with restricted mobility of joints and gingival hypertrophy. Calcifications were seen within the tumor shadows in the skull X-Rays. Histopathological study revealed characteristic features consistent with Juvenile hyaline fibromatosis. We report this case in view of its rarity.

Pulmonary hyalinizing granuloma with ureteric fibrosis: A case report and review of relevant literature.

A 52-year-old, asymptomatic patient presented with bilateral lung nodules on chest radiograph. She was diagnosed to have "pulmonary hyalinizing granuloma" on an open lung biopsy. We review the clinical features of this rare disease.

Juvenile hyaline fibromatosis--a rare case report.

Fibromatosis is a group of disorders characterized by infiltrating fibroblastic proliferation. Among them Juvenile hyaline fibromatosis (J.H.F) is a rare, progressive, crippling autosomal recessive disorder diagnosed based on the characteristic clinicopathological findings of generalized cutaneous nodular lesions, gingival hypertrophy, flexion contractures of large joints with osteolytic lesions, and proliferating fibroblasts set within a hyalinized stroma. This disorder commonly manifests in childhood with family history of consanguinity and in siblings. A case of seven year old boy born to consanguinous parents is reported who presented with multiple subcutaneous nodules and gingival hypertrophy. Histopathological examination revealed proliferating fibroblasts embedded in an abundant homogeneous eosinophilic hyalinized matrix. The matrix showed PAS stain positivity, supporting the pathogenesis of this disorder as an inborn error of glycosaminoglycans metabolism. The differential diagnosis is discussed and the literature reviewed.

Pulmonary hyalinizing granuloma. Bilateral pulmonary nodules associated with chronic idiopathic thrombocytopenic purpura

We report a case of a 30-year-old female who had been treated periodically with steroids for idiopathic thrombocytopenic purpura ITP over the last 10 years. Recently, during the course of investigation, she was found to have incidental asymptomatic multiple pulmonary nodules on chest CT. Following a needle biopsy to exclude malignancy, 2 nodules were excised and were histologically confirmed as pulmonary hyalinizing granuloma PHG. The remaining 2 nodules regressed on increasing her dose of steroids. The case is discussed with emphasis on the histological and radiological differential diagnosis, in addition to including ITP among the spectrum of immunologic conditions associated with PHG

Hyalinizing Spindle Cell Tumor with Giant Rosettes with Pulmonary Metastasis After a Long Hiatus: A Case Report

"Hyalinizing spindle cell tumor with giant rosettes" (HSCTGR) is a recently described tumor, which is regarded as an unusual variant of low-grade fibromyxoid sarcoma. Proof of a metastatic potential was lacking. The patient in the report was a 35-yr-old woman who showed multiple bilateral pulmonary nodules with massive pleural effusion in the right side. She had a history of a mass excision in the right thigh 11 yrs ago at another hospital, which was reported as a "leiomyoma". Two years before this presentation, the patient received a routine chest radiograph which demonstrated bilateral multiple pulmonary nodules. A lobectomy of the left upper lung was performed. The histological findings revealed a well-circumscribed nodule that was characterized by a spindle-shaped fibrous to hyalinized stroma with criss-crossing short fascicles and giant collagen rosettes surrounded by a rim of spindle-shaped cells. Electron microscopy confirmed the fibroblastic nature of the tumor. This case, in addition to at least two other cases reported in the literature, demonstrates that the HSCTGR is a malignant neoplasm with the capacity to metastasize after a long hiatus.

Changes in the hyaline articular cartilage after air exposure

The changes of hyaline articular cartilage from rabbits after air exposure were evaluated. The knee joints were exposed to air for periods of thirty minutes to two hours. The animals were killed periodically, at three days, one week and three weeks postoperatively. After sacrifice, the cartilage was removed and prepared for study by light microscopy and electron microscopy. Exposure to room air for thirty minutes produced chondrocyte necrosis in the upper third of the cartilage, and exposure for 60 minutes or longer produced chondrocyte necrosis of the entire thickness of articular cartilage at three days after arthrotomy. But, three weeks after arthrotomy, we could not find any chondrocyte necrosis in any rabbits at varying periods of air exposure. There was no significant change in proteoglycan content between the aired and control cartilage. Clinical Relevance: Exposing cartilage to air can cause transient and reversible cartilage damage. If these changes are not reversible, the orthopedic surgeon should consider avoiding the prolonged exposure of articular cartilage to air, since complete matrix disintegration is known to occur months after chondrocyte necrosis.