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Biomedical subjects

Nasim Fazel

Publications and source records attributed to Nasim Fazel.

6 recordsLinked to original sources

Acrodermatitis enteropathica and an overview of zinc metabolism.

Acrodermatitis enteropathica is a rare autosomal recessive disorder of zinc deficiency. The genetic defect has been mapped to 8q24 and the defective gene identified as SLC39A4, which encodes the zinc transporter Zip4. The diagnosis is made by way of clinical presentation together with histopathology and laboratory tests. Here we provide an overview of zinc metabolism and a description of inherited and acquired zinc deficiency.

Acrodermatitis↗

Zosteriform lichen planus.

A 95-year-old woman presented with a 4-month history of a pruritic eruption involving her trunk, medial thighs, and lesions limited to the C5 dermatome of the left upper extremity. Punch biopsy supported a clinical diagnosis of zosteriform lichen planus. Linear lichen planus refers to lichen planus with a unilateral linear distribution. This variant may present as an example of the Wolf isotopic response, or more rarely, a de novo eruption on previously-normal skin. In very rare instances linear lichen planus presents in a segmental fashion corresponding to a dermatome and is termed zosteriform lichen planus.

Aged, 80 and over↗

Muir-Torre syndrome.

A 65-year-old man with a history of multiple neoplastic and pre-neoplastic gastrointestinal lesions as well as urogenital carcinoma presented for evaluation of two asymptomatic skin-colored papules in the head and neck region. Biopsy revealed sebaceous neoplasms and immunohistochemical staining was negative for the presence of hMSH-2 protein in both specimens. These findings were consistent with a diagnosis of Muir-Torre syndrome in the setting of a prior history of visceral malignancies. Muir-Torre Syndrome is a rare autosomal dominant genodermatosis associated with mutations in mismatch repair proteins, hMSH-2 and hMLH-1, which predispose affected patients to visceral malignancies as well as sebaceous gland neoplasms.

Adaptor Proteins, Signal Transducing↗

Necrobiotic xanthogranuloma treated with chlorambucil.

We report a case of necrobiotic xanthogranuloma that responded to treatment with chlorambucil. A 56-year-old man presented with a 5-year history of multiple, mildly pruritic, brown-to-violaceous plaques with central ulceration and atrophy involving the periorbital area, extremities, and trunk. Laboratory studies showed mild leukopenia and a monoclonal gammopathy of the IgG lambda type on serum protein immunoelectrophoresis. Histopathological evaluation revealed a dense histiocytic infiltrate with hyaline necrobiosis involving the dermis with extension to the subcutis. Multiple large multinucleated giant cells and scattered lymphocytes were seen. A diagnosis of necrobiotic xanthogranuloma was established. The patient was started on chlorambucil initially at 2 mg per day. The dose was later increased to 4 mg per day, which resulted in flattening and complete resolution of his skin lesions.

Antineoplastic Agents, Alkylating↗

Drug-induced linear IgA bullous dermatosis.

A 73-year-old man was admitted to the University of California Davis Medical Center for treatment of a pleural effusion and congestive heart failure. His hospital course was complicated by asymptomatic sustained ventricular tachycardia requiring placement of an implantable cardiac defibrillator. The patient was treated with vancomycin and cefazolin during the procedure. After 3 days he developed tense vesicles over the dorsal aspect of the hands. Perilesional skin biopsy showed subepidermal cleavage with a neutrophilic infiltrate. Direct immunofluorescence revealed granular IgA and C3 deposition along the dermal epidermal junction. A diagnosis of drug-induced linear IgA bullous dermatosis secondary to vancomycin was established. Linear IgA bullous dermatosis is a rare autoimmune blistering disorder with clinical features that can overlap with bullous pemphigoid and dermatitis herpetiformis. Drug-induced linear IgA bullous dermatosis is a less common variant that is correspondingly less well characterized. Although a variety of medications have been implicated, vancomycin is the most common associated drug.

Aged↗

Evaluation and management of the patient with photosensitivity.

Evaluation of patients with photosensitivity includes a detailed history, physical examination, phototests, photopatch tests, and other laboratory tests as appropriate. The epidemiology, clinical features, diagnosis, and management of the more common idiopathic photodermatoses, namely, polymorphous light eruption, chronic actinic dermatitis, and solar urticaria will be reviewed. A brief overview of phototoxicity, photoallergy, and photoprotection is discussed with further elaboration upon the principles of phototherapy and its utility in treating idiopathic photodermatoses.

Humans↗