Aplastic anemia in a patient with Rothmund-Thomson syndrome.

This report is the first to describe constitutional aplastic anemia in a patient with Rothmund-Thomson syndrome (also called poikiloderma congenitale), a disease characterized by multiple cutaneous and extracutaneous findings. The findings suggest that although Rothmund-Thomson syndrome is a rare disease, vigilance for the development of associated hematologic abnormalities is warranted.

Congenital erosive and vesicular dermatosis healing with reticulated supple scarring: report of three new cases and review of the literature.

Congenital erosive and vesicular dermatosis healing with reticulated, supple scarring is a rare disease with seven reported cases in the literature. This congenital cutaneous defect of unknown etiology presents with patchy or generalized erosions and vesicles at birth that heal with striking reticulated scarring. We report three new cases of this rare disease and review the literature.

Granulocytic sarcoma in the absence of myeloid leukemia.

Granulocytic sarcoma is an extramedullary tumor composed of immature granulocytic precursor cells. It usually occurs in association with leukemia or other myeloproliferative disorders but can occur without overt hematologic disease. We describe a 6-year-old boy with granulocytic sarcoma in the absence of demonstrable hematologic disease and review the literature regarding the diagnosis, clinical associations, and treatment of this condition.

Long-term follow-up of cutaneous changes in siblings with mandibuloacral dysplasia who were originally considered to have hereditary sclerosing poikiloderma.

Mandibuloacral dysplasia is a rare syndrome characterized by mandibular hypoplasia, delayed cranial suture closure, dysplastic clavicles, abbreviated, club-shaped terminal phalanges, acroosteolysis, atrophy of the skin over the hands and feet, and poikilodermatous skin changes. We describe the cases of two siblings with features of mandibuloacral dysplasia who as children were considered to have hereditary sclerosing poikiloderma. On their reevaluation as adults, the clinical features of their condition were perceived to be compatible with mandibuloacral dysplasia.

Treatment of Mycobacterium haemophilum infection with an antibiotic regimen including clarithromycin.

A patient with rheumatoid arthritis developed ulcerated nodules predominantly on his legs. Skin biopsy and culture demonstrated rheumatoid vasculitis and infection with Mycobacterium haemophilum. Improvement was not seen until clarithromycin was added to his treatment regimen.

Atypical presentation of inflammatory bowel disease in the elderly.

Despite multiple invasive diagnostic procedures including exploratory laparotomy and surgical resection, our patient's diagnosis remained an enigma. However, given the clinical scenario and the documented PG, a trial of steroids was warranted. The patient has fared well since her treatment, with resolution of all her symptoms. We feel confident that her disease process is most consistent with, and is most likely, Crohn's disease. There are several lessons to be learned from this case: 1) Inflammatory bowel disease can present at any age and belongs in a clinician's differential diagnosis of fever and diarrhea. 2) Failure to consider IBD in an elderly patient may lead to significant delay in diagnosis, and may expose the patient to unnecessary and sometimes dangerous intervention. 3) IBD in the elderly generally follows the same clinical patterns seen in younger patients. 4) Appropriate therapy can lead to prompt control or even resolution of the signs and symptoms of IBD.

Vancomycin-associated linear IgA dermatosis. A report of three cases.

BACKGROUND: Linear IgA dermatosis is an autoantibody-mediated, subepidermal blistering disease that is rarely associated with drug exposure. OBJECTIVE: We report the development of linear IgA dermatosis in three patients associated with the administration of vancomycin and further characterize the immunopathology. METHODS: Direct and indirect immunofluorescence assays were performed to characterize the immunoreactants, determine the subclass of the IgA deposits, and map the site of antibody deposition. RESULTS: A subepidermal blistering disease developed in all patients shortly after vancomycin was initiated, which resolved on discontinuation of the drug. Immunofluorescence studies revealed linear deposits of IgA1 only at the basement membrane zone, below the lamina lucida. Circulating IgA anti-basement membrane zone antibodies were not detected. CONCLUSION: Three patients had linear IgA dermatosis in association with the administration of vancomycin. All patients had linear deposits of IgA1 localized to the sublamina densa zone. Immunophenotypically, the disease in these patients mimics the pattern of IgA deposits seen in the majority of patients with idiopathic linear IgA dermatosis.