Generalized verrucosis in a patient with GATA2 deficiency.

Generalized verrucosis is a characteristic of several genetic and immunodeficiency disorders including epidermodysplasia verruciformis; warts, hypogammaglobulinaemia, infections and myelokathexis (WHIM) syndrome; warts, immunodeficiency, lymphoedema and anogenital dysplasia (WILD) syndrome; severe combined immune deficiency and HIV, among others. In recent years, it has been consistently recognized in patients with GATA2 deficiency, a novel immunodeficiency syndrome characterized by monocytopenia, B-cell and natural killer-cell lymphopenia, and a tendency to develop myeloid leukaemias and disseminated mycobacterial, human papillomavirus (HPV) and opportunistic fungal infections. Mutations in GATA2 cause haploinsufficiency and track in families as an autosomal dominant immunodeficiency. GATA2 is a transcription factor involved in early haematopoietic differentiation and lymphatic and vascular development. We describe a case of generalized verrucosis with HPV type 57 presenting in a young man with GATA2 deficiency. GATA2 deficiency is a novel dominant immunodeficiency that is often recognized later in life and should be considered in the differential diagnosis of patients with generalized verrucosis.

Periumbilical parasitic thumbprint purpura: strongyloides hyperinfection syndrome acquired from a cadaveric renal transplant.

Periumbilical parasitic thumbprint purpura may be a presenting sign of hyperinfection strongyloidiasis in the immunocompromised host. We report a case of fatal hyperinfection strongyloidiasis acquired from a cadaveric renal allograft, diagnosed by the pathognomonic periumbilical thumbprint purpuric eruption, confirmed by skin biopsy and laboratory testing.

Fatal disseminated Acanthamoeba infection in a liver transplant recipient immunocompromised by combination therapies for graft-versus-host disease.

Immunosuppressed solid organ transplant recipients are at increased risk for acquisition of opportunistic pathogens, with potentially fatal consequences. With the introduction of novel immunosuppressive agents used to prevent organ rejection and to treat the sequelae of transplantation, severity and rates of infection with unusual opportunistic pathogens may increase. Various monoclonal antibodies are now being used in the treatment of severe, acute graft-versus-host disease (GVHD), including rituximab, daclizumab, and alemtuzumab. These therapies, particularly when used in combination and with other traditional forms of immunosuppression, may have profound effects on the immune system. Acanthamoeba species are ubiquitous, free-living protozoa that rarely cause disseminated disease in the immunocompromised host. We report a fatal case of disseminated Acanthamoeba infection with a dramatic cutaneous presentation in a liver transplant recipient severely immunocompromised by sequential standard and novel therapies used to successfully treat life-threatening acute GVHD. This case illustrates the current major limitation of these therapies, discusses the cutaneous findings in disseminated acanthamoebiasis, and highlights the need to maintain vigilance for the presence of unusual infection in patients receiving similar therapeutic regimens.

Genetics of skin appendage neoplasms and related syndromes.

In the past decade the molecular basis of many inherited syndromes has been unravelled. This article reviews the clinical and genetic aspects of inherited syndromes that are characterised by skin appendage neoplasms, including Cowden syndrome, Birt-Hogg-Dube syndrome, naevoid basal cell carcinoma syndrome, generalised basaloid follicular hamartoma syndrome, Bazex syndrome, Brooke-Spiegler syndrome, familial cylindromatosis, multiple familial trichoepitheliomas, and Muir-Torre syndrome.

Tripe palms and malignancy.

Tripe palms are characterized clinically by thickened velvety palms with pronounced dermatoglyphics. We describe two patients with triple palms and pulmonary tumors, and review the 77 patients with idiopathic- and malignancy-associated tripe palms reported in the world literature. The majority (94%) of published cases of tripe palms occurred in patients with cancer; only five patients showed no evidence of an associated malignancy. Tripe palms were frequently seen in conjunction with acanthosis nigricans (77% of cases), although they can occur alone (23% of cases). In cancer patients with tripe palms alone, the most common underlying neoplasm was pulmonary carcinoma (53% of cases), whereas patients with both tripe palms and acanthosis nigricans frequently had gastric (35% of cases) or pulmonary (11% of cases) carcinomas. A wide variety of other solid tumors have also been observed. Importantly, in over 40% of patients, tripe palms were the presenting feature of a previously undiagnosed malignancy. Therefore, all patients with tripe palms should be evaluated with a full diagnostic work-up for an associated malignancy, particularly lung or gastric carcinoma.

Giant kidneys in Waldenström's macroglobulinemia.

A patient with Waldenström's macroglubulinemia had the unique feature of having one kidney infiltrated with malignant cells to such an extent as to produce a large palpable abdominal mass. Other unusual aspects of this case include the destruction of renal tubules by the invading cells that resulted in interstitial fibrosis and was probably responsible for the appearance of whole IgM in the urine.

Subcutaneous nodules in Pseudomonas sepsis.

Approximately 60 nontender, nonfluctuant, red, hot subcutaneous nodules developed on the trunk, extremities, and face due to Pseudomonas aeruginosa septicemia in a 56-year-old woman with stage III ovarian adenocarcinoma. Two years later, these lesions appeared atrophic with central scarring. Complete eradication with systemic antibiotics and without incision and drainage was accomplished.

Chronic perianal herpes simplex in immunocompromised hosts.

Four immunosuppressed patients are described with chronic ulcerative herpes simplex virus infection in the sacral and perianal area. Three of these patients were evaluated for decubitus ulcers. Prompt diagnosis was possible when the characteristic morphologic features were recognized and when viral culture and Tzanck smear specimens were obtained. Previously reported cases are reviewed as well. Chronic mucocutaneous herpes simplex infections are complications of immunocompromised hosts and should be recognized early if appropriate therapy is to be initiated.

Avascular necrosis of bone in dyskeratosis congenita.

A case of dyskeratosis congenita, a rare X-linked disorder, is presented. The patient had the classic triad of cutaneous findings: reticulated hyperpigmentation, nail dystrophy, and leukoplakia. In addition, a previously unreported finding developed, avascular necrosis of bone without systemic steroid therapy. Recognition of this disorder is important because pancytopenia and malignancy develop in up to 50 percent of patients.

Steroid-induced Kaposi's sarcoma in a patient with pre-AIDS.

Kaposi's sarcoma is known to occur in a variety of immunosuppressed patients. The course of the disease varies depending on the underlying risk factors. A male homosexual patient in whom Kaposi's sarcoma developed while he was being treated with prednisone for Henoch-Schönlein purpura is described. The resolution of his lesions once the steroid was discontinued places him in the group of patients whose main risk factor is the steroid itself, rather than the acquired immune deficiency syndrome (AIDS) risk group. A review of the literature on steroid-treated patients in whom Kaposi's sarcoma developed is presented.

Disseminated herpes zoster in patients with human immunodeficiency virus infection.

Herpes zoster virus infections occur in persons with decreased cellular immunity. A 45-year-old man is described who presented with disseminated herpes zoster as the initial manifestation of his human immunodeficiency virus infection. Disseminated herpes zoster virus infections have been reported in human immunodeficiency virus-seropositive patients. Similar to disseminated herpes zoster virus infections that occur in immunosuppressed patients seronegative for human immunodeficiency virus, an increased morbidity and responsiveness to acyclovir is observed. In contrast, the morphology of the skin lesions and the clinical course have been more severe, and the mortality has been increased. Visceral involvement has not been described.

Stevens-Johnson syndrome due to Mycoplasma pneumoniae in an adult.

A case of Stevens-Johnson Syndrome (erythema multiforme major) due to Mycoplasma pneumoniae infection in a 45-year-old man is presented. This association has been previously reported only in children and young adults. A brief review of erythema multiforme, including the Stevens-Johnson syndrome, is described. M. pneumoniae should be added to the list of causes of the Stevens-Johnson syndrome in adults with pneumonia.

Porphyria cutanea tarda. Clinical features and laboratory findings in 40 patients.

PIP: Porphyria cutanea tarda is the most common disorder of porphyrin metabolism in the United States and Europe. This report presents the clinical, laboratory and pathologic features of 40 patients with porphyria cutanea tarda. Each patient was followed up for variable times during 1960-76 at the Clinical Research Center and the Dermatology Service of the Columbia-Presbyterian Medical Center; at the New York University Medical Center; or at the Rockefeller University Hospital. Earlier age at onset; diminution of alcohol ingestion as the major etiologic factor; and, an increased incidence in females indicate new environmental influences. The most frequently associated etiologic factor, aside from alcohol intake, was use of estrogens for contraception; postmenopausal syndrome; or treatment of prostatic carcinoma. Cutaneous findings in the patients included bullae (85%); increased skin fragility (75%); facial hypertrichosis (63%); hyperpigmentation (55%); sclerodermoid changes (18%); and, dystrophic calcification with ulceration (8%). Diabetes mellitus was found in 15%; systemic lupus erythematosus in 5%; elevated serum iron level in 62%; and, abnormal liver function test results in 60%. Histologic abnormalities were seen in liver biopsies of 34 patients. Phlebotomy is the treatment of choice. In 32 patients so treated, clinical remissions averaged 30.9 months. 31% (10 patients) had a relapse but additional phlebotomies resulted in 2nd remissions. Chloroquine and plasmaphoresis treatments were also briefly discussed.^ieng

Correlation of serum and urinary porphyrin levels in porphyria cutanea tarda.

A significant linear correlation was found between serum total porphyrin concentration and 24-hour total urinary porphyrin excretion in 18 patients with porphyria cutanea tarda sampled at diagnosis and during and after treatment on 73 occasions. This confirms that the serum porphyrin level parallels urinary porphyrin excretion and is an appropriate indicator of disease activity useful for monitoring patients in clinical practice.

Porphyria cutanea tarda associated with chronic renal disease and hemodialysis.

A fourth case of symptomatic porphyria associated with hemodialysis for chronic renal failure is reported. Subepidermal bullous dermatoses of patients who have undergone hemodialysis have not usually been associated with elevated porphyrin levels. However, this patient and three previously reported cases have been found to have abnormal porphyrin study results in association with skin lesions typical for porphyria cutanea tarda, occurring after hemodialysis. Hemodialysis does not effectively decrease circulating plasma uroporphyrin levels, although some dialysis of uroporphyrin into the dialysate could be measured in this case. Evaluation of bullous or porphyrialike dermatoses in patients treated with hemodialysis should include adequate testing for increased porphyrin levels.

Streptococcal gangrene of the eyelids and orbit.

PURPOSE: Streptococcal gangrene, also termed streptococcal necrotizing fasciitis, is resurgent but remains exceedingly rare. Ophthalmologists and dermatologists must be aware of streptococcal gangrene, as eyelids are the most commonly affected area of the head and neck. METHODS: We studied two cases of streptococcal gangrene of the orbit with clinical manifestations indistinguishable from common nonnecrotizing orbital cellulitis. RESULTS: Infection progressed with dramatic rapidity to produce eyelid necrosis, respiratory failure, sepsis, and severe permanent visual loss caused by ophthalmic artery occlusions. Histopathologic analysis disclosed vascular thrombosis, necrosis, acute inflammation, and the presence of gram-positive cocci. Cultures grew heavy group A beta hemolytic Streptococcus. The first patient was infected with M type 1 carrying exotoxins A and B. The second patient was also infected with Streptococcus carrying exotoxin A. CONCLUSION: Early diagnosis of this life-threatening infection is of paramount importance because survival may depend on early surgical debridement.

Pseudocyst of the auricle. Case report and world literature review.

We treated a patient with pseudocyst of the auricle and reviewed the 113 cases previously published in the world literature. Pseudocyst of the auricle is an asymptomatic, noninflammatory cystic swelling that involves the anthelix of the ear, results from an accumulation of fluid within an unlined intracartilaginous cavity, and occurs predominantly in men (93% of patients). Characteristically, only one ear is involved (87% of patients), and the lesion is usually located within the scaphoid or triangular fossa of the anthelix. Previous trauma to the involved ear is uncommon. The diagnosis may be suggested by the clinical features, and analysis of the aspirated cystic fluid and/or histologic examination of a lesional biopsy specimen will confirm the diagnosis. Therapeutic intervention that maintains the architecture of the patient's external ear should be used in the treatment of this benign condition.