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D F Fretzin

Publications and source records attributed to D F Fretzin.

At least 19 recordsLinked to original sources
PubMed1992

Pleomorphic lipoma. Case reports and review of the literature.

Two patients are reported with pleomorphic lipoma, a benign subcutaneous fatty tumor showing atypia in which histologic diagnosis may be difficult. The tumors are well circumscribed lesions, most commonly occurring in the neck and shoulder of middle aged men. An important histologic criteria is the presence of floret-like multinucleated giant cells embedded in a myxoid stroma. Pleomorphic lipoma may be confused with several malignant soft-tissue neoplasms, including myxoid malignant fibrous histiocytoma and variants of liposarcoma. It is important to establish the correct diagnosis to avoid unnecessary radical surgery.

Forehead↗
PubMed1990

Genetic counseling in segmental neurofibromatosis.

We report two patients with segmental neurofibromatosis and review the literature with regard to possible hereditary transmission of this disorder. Patients that meet strict criteria for the diagnosis of segmental neurofibromatosis seem to have a low probability of transmitting the disease. We emphasize the importance of establishing and strictly adhering to a set of diagnostic criteria and of obtaining a comprehensive family history when reporting cases of segmental neurofibromatosis.

Adolescent↗
PubMed1990

Quantitative assessment of scanning electron microscope defects in uncombable-hair syndrome.

Uncombable-hair syndrome is a rare disorder of scalp hair that starts early in childhood. It is characterized clinically as unruly hair and by scanning electron microscopy as longitudinally grooved hairs with a triangular cross section. Because of the controversy of inheritance and prior reports of similar changes in normal and other hair disorders, we performed a quantitative scanning electron microscopic assessment of four patients with uncombable-hair syndrome, first-degree relatives, and nonaffected controls. Our results indicate that longitudinal grooving of scalp hair is a common occurrence, and that for clinical changes to be apparent, approximately 50% of hairs must be affected.

Child↗
PubMed1989

Focal acantholytic dyskeratosis in condyloma acuminata.

Focal acantholytic dyskeratosis (FAD) is considered an incidental histological finding of unknown etiology. It has been described in association with only few pathological conditions. To the best of our knowledge, we report the first case of focal acantholytic dyskeratosis occurring in condyloma acuminata.

Acantholysis↗
PubMed1989

Necrobiotic xanthogranuloma with paraproteinemia.

Necrobiotic xanthogranuloma with paraproteinemia is a distinct clinicopathologic entity defined by skin lesions that are characteristic both clinically and histologically, as well as a by variety of hematologic and chemical abnormalities. It is frequently associated with multiple myeloma or chronic lymphocytic leukemia. A patient with the characteristic findings but with an unusual course is described.

Eyelid Diseases↗
PubMed1988

Lupus erythematosus in a patient with long-standing multiple sclerosis.

The occurrence of both lupus erythematosus and multiple sclerosis in several members within the same family has been previously documented. In the past, patients manifesting symptoms and findings compatible with both of these diseases have posed difficult diagnostic problems. This report concerns a patient with long-standing multiple sclerosis and in whom cutaneous and serologic lupus erythematosus developed. To our knowledge this is the first such case reported in the English literature. A daughter of this patient had developed serologic lupus erythematosus. The intensified study of patients with both of these diseases and those families with several members with one of these diseases may lead to new insights into the cause and pathogenesis of these disorders.

Adult↗
PubMed1988

Bowen's disease of the umbilicus simulating psoriasis vulgaris.

Bowen's disease and other primary cutaneous malignancies are uncommon in patients with psoriasis. Primary malignancies of the umbilicus are also unusual. Plaques of psoriasis and Bowen's disease may appear morphologically similar, requiring examination of a biopsy specimen for definitive diagnosis. We report on a patient with psoriasis who experienced Bowen's disease of the umbilicus that was initially believed to be psoriasis.

Bowen's Disease↗
PubMed1987

Uncombable hair (pili trianguli et canaliculi): evidence for dominant inheritance with complete penetrance based on scanning electron microscopy.

Uncombable or spun-glass hair (pili trianguli et canaliculi) is an uncommon condition in which the hair is "unmanageable" and has a distinct appearance on scanning electron microscopy. The hair is usually grossly abnormal in infancy and childhood, but may become normal later in life. Although dominant inheritance has been observed, most cases have been sporadic. Both recessive and dominant transmission with incomplete penetrance have been suggested as modes of inheritance. We report the occurrence of this condition in a young girl, her brother, and her father. Although the proposita and her brother had characteristically uncombable hair, their father appeared normal and denied any history of hair abnormality. However, the characteristic hair morphology was observed on scanning electron microscopy in all 3 relatives, documenting dominant transmission and complete penetrance of the gene in this family.

Child, Preschool↗
PubMed1987

Sclerema neonatorum and subcutaneous fat necrosis of the newborn.

Sclerema neonatorum and subcutaneous fat necrosis are rare disorders affecting the panniculus of the newborn. This review attempts to put into perspective their similarities and differences in light of historical, biochemical, pathologic, and etiologic considerations. Recent therapeutic modalities and the prognosis are discussed.

Diagnosis, Differential↗
PubMed1987

Multiple sclerosis and systemic lupus erythematosus. Occurrence in two generations of the same family.

Multiple sclerosis (MS) and systemic lupus erythematosus (SLE) have overlapping clinical features and laboratory findings. It has, in fact, been hypothesized that MS and SLE have a common etiology. Usually MS and SLE are considered to have autoimmune pathogenesis, and both are chronic diseases that can respond to steroids. Some patients are diagnosed with either MS or SLE but subsequently develop the other disease. We described a family where multiple members of one generation have SLE and two members of the preceding generation have MS. Histocompatibility typing did not reveal any association between HLA inheritance of genes and incidence of severity of disease.

Adult↗
PubMed1985

A unique case of sarcoidosis with coexistent collagen vascular disease. Possible result of a compatible disease-sustaining immunologic environment.

A patient presented with dysphagia, arthralgias, and a peculiar skin eruption characterized by histopathologic features of sarcoidal granulomas and lupus erythematosus occurring in the same lesion. Sarcoidal granulomas were also found in skeletal muscle. The unique histopathologic features of this case suggest that coexistence of sarcoidosis with autoimmune collagen vascular diseases may be more than coincidence. A review of the immunologic status of patients with sarcoidosis and autoimmune collagen vascular disorders is presented with speculations on the relevance of potential disease-sustaining immunologic patterns of both groups of diseases.

Adrenal Cortex Hormones↗
PubMed1985

Neurothekeoma of Gallager and Helwig (dermal nerve sheath myxoma variant): report of a case with electron microscopic and immunohistochemical studies.

A patient presented with a frontal nodule of the scalp. Histopathological examination revealed a myxomatous multilobulate tumor composed of epithelioid cells with variable pleomorphism. Perineurium-like structures were seen but only around isolated lobules located at the tumor periphery. Electron microscopy revealed polygonal cells and cells with elongated cytoplasmic processes. Many cells had myelinoid figures. A basement membrane-like lamina was noted around some cells. Some of the tumor cells were immunoreactive for myelin basic protein. This finding suggests that the tumor cells are of schwannian type. Neurothekeoma of Gallager and Helwig is a rare, probably benign tumor with fairly distinctive histopathologic characteristics. It appears to be a variant of dermal nerve-sheath myxoma.

Adolescent↗
PubMed1984

Angiolymphoid hyperplasia demonstrating extensive skin and mucosal lesions controlled with vinblastine therapy.

Since Kimura's original description of an unusual subcutaneous disorder with distinctive histologic features of vascular and lymphoid proliferation, numerous descriptions of diseases with similar features have been reported. A variety of descriptive labels, including Kimura's disease, angiolymphoid hyperplasia (ALH) with eosinophilia, atypical pyogenic granuloma, papular angioplasia, and histiocytoid hemangioma, have been applied to these diseases. Although this information has broadened our understanding of the clinical and pathologic spectrum of ALH, the etiology and/or pathogenesis remains unknown. Our case report illustrates the wide range of clinical features of ALH, demonstrating extensive lesions on skin and mucosa. The extreme histologic variability with regard to eosinophils, lymphoid infiltrates, and vascular alterations is also illustrated. Dramatic response to vinblastine sulfate treatment has not been previously reported and may provide a viable treatment alternative in selected patients.

Adult↗